Variant report

Variant	nsv8480
Chromosome Location	chr1:155206335-155214536
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1185)
CpG islands
(count:611)
Chromatin interactive
region (count:61)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1185 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:155211743-155211909	K562	blood:	n/a	n/a
2	ARID3A	chr1:155214261-155214791	K562	blood:	n/a	n/a
3	ARID3A	chr1:155210932-155211354	HepG2	liver:	n/a	n/a
4	ATF1	chr1:155214362-155214888	K562	blood:	n/a	n/a
5	ATF1	chr1:155210928-155211236	K562	blood:	n/a	n/a
6	ATF2	chr1:155214167-155215115	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr1:155214167-155214963	GM12878	blood:	n/a	n/a
8	ATF2	chr1:155210932-155211284	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr1:155210887-155211301	GM12878	blood:	n/a	n/a
10	ATF2	chr1:155214348-155214853	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr1:155214122-155214921	GM12878	blood:	n/a	n/a
12	ATF2	chr1:155210881-155211282	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr1:155210875-155211296	GM12878	blood:	n/a	chr1:155211080-155211089 chr1:155211060-155211069
14	ATF3	chr1:155214207-155214816	K562	blood:	n/a	n/a
15	ATF3	chr1:155210875-155211383	A549	lung:	n/a	chr1:155211080-155211089 chr1:155211060-155211069
16	ATF3	chr1:155214302-155215021	A549	lung:	n/a	chr1:155214946-155214957
17	ATF3	chr1:155210871-155211264	H1-hESC	embryonic stem cell:	n/a	chr1:155211080-155211089 chr1:155211060-155211069
18	ATF3	chr1:155211444-155211871	K562	blood:	n/a	n/a
19	ATF3	chr1:155210897-155211162	GM12878	blood:	n/a	chr1:155211080-155211089 chr1:155211060-155211069
20	ATF3	chr1:155210893-155211233	HepG2	liver:	n/a	chr1:155211080-155211089 chr1:155211060-155211069
21	ATF3	chr1:155210878-155211279	A549	lung:	n/a	chr1:155211080-155211089 chr1:155211060-155211069
22	ATF3	chr1:155210797-155211327	HepG2	liver:	n/a	chr1:155211080-155211089 chr1:155211060-155211069
23	ATF3	chr1:155210904-155211278	K562	blood:	n/a	chr1:155211080-155211089 chr1:155211060-155211069
24	ATF3	chr1:155214300-155214921	A549	lung:	n/a	n/a
25	ATF3	chr1:155210888-155211238	K562	blood:	n/a	chr1:155211080-155211089 chr1:155211060-155211069
26	ATF3	chr1:155210895-155211289	H1-hESC	embryonic stem cell:	n/a	chr1:155211080-155211089 chr1:155211060-155211069
27	BACH1	chr1:155214493-155214979	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr1:155214529-155214809	K562	blood:	n/a	n/a
29	BATF	chr1:155214349-155214807	GM12878	blood:	n/a	n/a
30	BCL11A	chr1:155214431-155214747	GM12878	blood:	n/a	n/a
31	BCL11A	chr1:155214416-155214822	GM12878	blood:	n/a	n/a
32	BCL3	chr1:155214182-155214907	A549	lung:	n/a	n/a
33	BCL3	chr1:155214215-155214798	GM12878	blood:	n/a	n/a
34	BCL3	chr1:155210894-155211423	A549	lung:	n/a	chr1:155211090-155211099
35	BCL3	chr1:155214043-155215196	A549	lung:	n/a	n/a
36	BCL3	chr1:155210785-155211265	A549	lung:	n/a	chr1:155211090-155211099
37	BCLAF1	chr1:155214072-155214879	K562	blood:	n/a	n/a
38	BCLAF1	chr1:155214026-155214957	GM12878	blood:	n/a	n/a
39	BCLAF1	chr1:155213942-155214971	GM12878	blood:	n/a	n/a
40	BCLAF1	chr1:155214135-155214932	K562	blood:	n/a	n/a
41	BHLHE40	chr1:155211008-155211252	GM12878	blood:	n/a	chr1:155211054-155211075
42	BHLHE40	chr1:155214278-155215126	K562	blood:	n/a	n/a
43	BHLHE40	chr1:155211693-155211793	K562	blood:	n/a	n/a
44	BHLHE40	chr1:155214246-155214859	GM12878	blood:	n/a	n/a
45	BHLHE40	chr1:155213769-155213952	K562	blood:	n/a	n/a
46	BHLHE40	chr1:155214319-155214500	A549	lung:	n/a	n/a
47	BRCA1	chr1:155210910-155211457	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr1:155214234-155214855	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr1:155214344-155214791	GM12878	blood:	n/a	n/a
50	BRCA1	chr1:155214253-155214828	H1-hESC	embryonic stem cell:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155208775-155208825	GM12892	blood:	n/a
2	chr1:155208775-155208825	GM12892	blood:	n/a
3	chr1:155208775-155208825	HIPEpiC	eye:	n/a
4	chr1:155211462-155211512	HCT-116	colon:	n/a
5	chr1:155214303-155214353	GM12878	blood:	n/a
6	chr1:155211736-155211786	Caco-2	colon:	n/a
7	chr1:155214492-155214542	HepG2	liver:	n/a
8	chr1:155211040-155211090	HEK293	kidney:	embryo
9	chr1:155213747-155213797	Hela-S3	cervix:	n/a
10	chr1:155211079-155211129	U87	brain:	n/a
11	chr1:155211736-155211786	AG09309	skin:	n/a
12	chr1:155211079-155211129	H1-hESC	embryonic stem cell:	embryo
13	chr1:155208775-155208825	SK-N-SH_RA	brain:	n/a
14	chr1:155211040-155211090	Hepatocyte	liver:	n/a
15	chr1:155208775-155208825	ProgFib	skin:	n/a
16	chr1:155214492-155214542	HEK293	kidney:	embryo
17	chr1:155213747-155213797	ProgFib	skin:	n/a
18	chr1:155211462-155211512	HRPEpiC	eye:	n/a
19	chr1:155211736-155211786	LNCaP	prostate:	n/a
20	chr1:155214303-155214353	LNCaP	prostate:	n/a
21	chr1:155211079-155211129	SK-N-MC	brain:	n/a
22	chr1:155214492-155214542	HRE	kidney:	n/a
23	chr1:155214492-155214542	HCPEpiC	choroid plexus:	n/a
24	chr1:155213747-155213797	HEEpiC	esophagus:	n/a
25	chr1:155213714-155213764	Jurkat	blood:	n/a
26	chr1:155213714-155213764	GM19239	blood:	n/a
27	chr1:155213714-155213764	NT2-D1	testis:	n/a
28	chr1:155213714-155213764	BE2_C	brain:	n/a
29	chr1:155211736-155211786	HEK293	kidney:	embryo
30	chr1:155213714-155213764	K562	blood:	n/a
31	chr1:155211040-155211090	AG10803	skin:	n/a
32	chr1:155211736-155211786	A549	lung:	n/a
33	chr1:155214303-155214353	SK-N-SH_RA	brain:	n/a
34	chr1:155214425-155214475	BJ	skin:	n/a
35	chr1:155214425-155214475	NHBE	bronchial:	n/a
36	chr1:155211040-155211090	ovcar-3	ovarian:	n/a
37	chr1:155213747-155213797	GM12878	blood:	n/a
38	chr1:155211736-155211786	HepG2	liver:	n/a
39	chr1:155211736-155211786	NH-A	brain:	n/a
40	chr1:155208775-155208825	IMR90	lung:	fetal
41	chr1:155208775-155208825	A549	lung:	n/a
42	chr1:155213714-155213764	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:155211079-155211129	AG04450	lung:	fetal
44	chr1:155211462-155211512	HAEpiC	amniotic membrane:	n/a
45	chr1:155213714-155213764	PrEC	prostate:	n/a
46	chr1:155214492-155214542	HNPCEpiC	eye:	n/a
47	chr1:155214303-155214353	Hepatocyte	liver:	n/a
48	chr1:155214492-155214542	SK-N-SH	brain:	n/a
49	chr1:155211462-155211512	PANC-1	pancreas:	n/a
50	chr1:155211736-155211786	GM12878	blood:	n/a

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:155180006..155181850-chr1:155210122..155211895,2	K562	blood:
2	chr1:155197109..155197807-chr1:155214053..155214771,4	HCT-116	colon:
3	chr1:155196978..155198560-chr1:155209319..155211586,2	K562	blood:
4	chr1:155210404..155213133-chr1:155222950..155225276,2	MCF-7	breast:
5	chr1:155209487..155212728-chr1:155212760..155217156,9	MCF-7	breast:
6	chr1:155210207..155211789-chr1:155219850..155221900,2	K562	blood:
7	chr1:155174858..155180302-chr1:155209102..155215747,8	MCF-7	breast:
8	chr1:155146543..155149271-chr1:155213227..155215655,2	K562	blood:
9	chr1:150533710..150534533-chr1:155214061..155214778,2	Hela-S3	cervix:
10	chr1:155211806..155213841-chr1:155274140..155275790,2	K562	blood:
11	chr1:155176888..155180042-chr1:155214260..155216336,5	K562	blood:
12	chr1:155211622..155214565-chr1:155278095..155280494,4	MCF-7	breast:
13	chr1:155210200..155211789-chr1:155219850..155222070,2	K562	blood:
14	chr1:155213885..155214847-chrX:134654507..134655032,2	NB4	blood:
15	chr1:155207800..155212678-chr1:155214121..155217855,6	K562	blood:
16	chr1:155176876..155179171-chr1:155209871..155213021,3	K562	blood:
17	chr1:155213191..155216225-chr1:155230341..155232984,3	MCF-7	breast:
18	chr1:155213102..155215658-chr1:155292526..155295305,4	MCF-7	breast:
19	chr1:155213260..155215992-chr1:155291631..155293665,2	K562	blood:
20	chr1:155207800..155212678-chr1:155214121..155217855,6	K562	blood:
21	chr1:154973468..154975172-chr1:155209592..155212426,2	MCF-7	breast:
22	chr1:155187157..155191331-chr1:155209670..155212928,5	MCF-7	breast:
23	chr1:155195406..155199356-chr1:155210414..155216260,10	K562	blood:
24	chr1:155195599..155199380-chr1:155211353..155216703,7	MCF-7	breast:
25	chr1:155209487..155212728-chr1:155212760..155217156,9	MCF-7	breast:
26	chr1:155209079..155212795-chr1:155212935..155216540,4	MCF-7	breast:
27	chr1:155200126..155202062-chr1:155213409..155215894,2	MCF-7	breast:
28	chr1:155196871..155197993-chr1:155213605..155215251,6	Hela-S3	cervix:
29	chr1:155197117..155197977-chr1:155214252..155214763,4	MCF-7	breast:
30	chr1:155213237..155217995-chr1:155221685..155226391,8	MCF-7	breast:
31	chr1:155209905..155211567-chr1:155291991..155294697,2	K562	blood:
32	chr1:155213691..155215819-chr1:155247024..155248547,2	MCF-7	breast:
33	chr1:155211497..155213419-chr17:60004081..60005775,2	MCF-7	breast:
34	chr1:155195600..155203152-chr1:155209955..155216515,9	MCF-7	breast:
35	chr1:153507973..153508488-chr1:155214304..155215138,2	Hela-S3	cervix:
36	chr1:155196524..155199471-chr1:155205933..155208728,2	MCF-7	breast:
37	chr1:155161998..155167332-chr1:155208163..155212538,6	K562	blood:
38	chr1:155212781..155214911-chr1:155269991..155272165,2	K562	blood:
39	chr1:155212049..155215843-chr1:155293307..155296856,5	MCF-7	breast:
40	chr1:155213005..155216511-chr1:155292470..155296220,4	K562	blood:
41	chr1:155214449..155216184-chr1:155237561..155239532,2	MCF-7	breast:
42	chr1:155212931..155218657-chr1:155240962..155244485,5	MCF-7	breast:
43	chr1:155196821..155197823-chr1:155213854..155215193,5	NB4	blood:
44	chr1:155213696..155217007-chr1:155289069..155291862,3	K562	blood:
45	chr1:155176431..155180791-chr1:155209413..155214573,7	MCF-7	breast:
46	chr1:155193188..155195403-chr1:155211959..155214156,2	K562	blood:
47	chr1:155176699..155181010-chr1:155210436..155216018,7	K562	blood:
48	chr1:155209377..155211075-chr1:155231660..155233982,2	MCF-7	breast:
49	chr1:155213177..155216583-chr1:155242889..155246560,4	K562	blood:
50	chr1:155200890..155203810-chr1:155211180..155212788,2	MCF-7	breast:

No data

Variant related genes	Relation type
GBA	TF binding region
ENSG00000216109	TF binding region
GBA	CpG island
ENSG00000216109	CpG island
ENSG00000176444	chromatin interactions
ENSG00000160685	chromatin interactions
ENSG00000165359	chromatin interactions
ENSG00000011523	chromatin interactions
ENSG00000169231	chromatin interactions
ENSG00000225855	chromatin interactions
ENSG00000160767	chromatin interactions
ENSG00000163462	chromatin interactions
ENSG00000143630	chromatin interactions
ENSG00000185499	chromatin interactions
ENSG00000236675	chromatin interactions
ENSG00000160753	chromatin interactions
ENSG00000197956	chromatin interactions
ENSG00000177628	chromatin interactions
ENSG00000231064	chromatin interactions
ENSG00000203804	chromatin interactions
ENSG00000271748	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000160752	chromatin interactions
ENSG00000116521	chromatin interactions
ENSG00000143627	chromatin interactions
ENSG00000236263	chromatin interactions
ENSG00000108506	chromatin interactions
ENSG00000225235	chromatin interactions
ENSG00000160766	chromatin interactions
ENSG00000173171	chromatin interactions
ENSG00000006757	chromatin interactions

Extended variants
information (count: 410 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9628662	chr1:155206341-155206342	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532252640	chr1:155206347-155206348	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550660699	chr1:155206354-155206355	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs373282418	chr1:155206363-155206364	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs568893377	chr1:155206373-155206374	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536234073	chr1:155206381-155206382	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs368332143	chr1:155206440-155206441	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs566645351	chr1:155206443-155206444	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs534043362	chr1:155206448-155206449	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs558479404	chr1:155206477-155206478	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs576590648	chr1:155206542-155206543	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs36024092	chr1:155206550-155206551	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs531447697	chr1:155206578-155206579	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs370558907	chr1:155206579-155206580	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs146697312	chr1:155206580-155206581	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs191036459	chr1:155206585-155206586	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs574525330	chr1:155206589-155206590	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs200655080	chr1:155206590-155206591	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs371810920	chr1:155206603-155206604	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs182363657	chr1:155206605-155206606	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs375247432	chr1:155206609-155206610	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs560885738	chr1:155206646-155206647	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs572653386	chr1:155206673-155206674	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs546436642	chr1:155206686-155206687	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs564538639	chr1:155206699-155206700	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs12743554	chr1:155206713-155206714	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs531912953	chr1:155206724-155206725	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs550723806	chr1:155206733-155206734	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs562556726	chr1:155206748-155206749	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs35033592	chr1:155206823-155206824	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs575660064	chr1:155206849-155206850	Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs529756206	chr1:155206864-155206865	Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs547873878	chr1:155206953-155206954	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs186893248	chr1:155206968-155206969	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs544673228	chr1:155206976-155206977	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs533856111	chr1:155206994-155206995	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370125418	chr1:155207017-155207018	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs72704130	chr1:155207030-155207031	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs570337924	chr1:155207040-155207041	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs537631939	chr1:155207047-155207048	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs556277010	chr1:155207056-155207057	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189774125	chr1:155207062-155207063	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545478869	chr1:155207072-155207073	Strong transcription Genic enhancers Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs398123535	chr1:155207143-155207144	Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs142662866	chr1:155207144-155207145	Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs121908298	chr1:155207148-155207149	Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs79696831	chr1:155207160-155207161	Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs575127557	chr1:155207180-155207181	Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs535896234	chr1:155207190-155207191	Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs74731340	chr1:155207202-155207203	Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1001 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155197200-155212800	Weak transcription	Small Intestine	intestine
2	chr1:155198000-155206800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:155198000-155209600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:155198000-155210400	Weak transcription	A549	lung
5	chr1:155198000-155210400	Weak transcription	HMEC	breast
6	chr1:155198000-155210400	Weak transcription	HSMM	muscle
7	chr1:155198000-155210600	Weak transcription	Psoas Muscle	Psoas
8	chr1:155198000-155210800	Weak transcription	Fetal Kidney	kidney
9	chr1:155198200-155207800	Weak transcription	NHLF	lung
10	chr1:155198200-155209600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:155198200-155209600	Weak transcription	Fetal Brain Male	brain
12	chr1:155198200-155210400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:155198200-155210400	Weak transcription	Stomach Mucosa	stomach
14	chr1:155198200-155210400	Weak transcription	NHEK	skin
15	chr1:155198200-155210800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:155198200-155210800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:155201200-155210400	Weak transcription	HepG2	liver
18	chr1:155201400-155210400	Weak transcription	K562	blood
19	chr1:155201400-155210600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:155201800-155210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:155202200-155210400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:155202600-155210400	Weak transcription	Right Atrium	heart
23	chr1:155202800-155210200	Weak transcription	Fetal Lung	lung
24	chr1:155203800-155210400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:155204600-155206800	Strong transcription	Aorta	Aorta
26	chr1:155204600-155209400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:155204600-155209400	Strong transcription	Spleen	Spleen
28	chr1:155204600-155209600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:155204600-155209600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:155204600-155209800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:155204600-155210000	Strong transcription	Fetal Intestine Small	intestine
32	chr1:155204800-155206800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:155204800-155207800	Strong transcription	Esophagus	oesophagus
34	chr1:155204800-155208000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr1:155204800-155208200	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:155204800-155208200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:155204800-155209800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr1:155205000-155206400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:155205000-155208000	Strong transcription	Liver	Liver
40	chr1:155205000-155208200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:155205000-155209000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr1:155205000-155209400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:155205000-155209600	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:155205000-155209800	Strong transcription	Adipose Nuclei	Adipose
45	chr1:155205000-155209800	Strong transcription	Thymus	Thymus
46	chr1:155205200-155207600	Strong transcription	Fetal Brain Female	brain
47	chr1:155205200-155208000	Strong transcription	Brain Cingulate Gyrus	brain
48	chr1:155205200-155208200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:155205200-155208200	Strong transcription	Lung	lung
50	chr1:155205200-155208800	Strong transcription	H1 Cell Line	embryonic stem cell

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