Variant report

Variant	rs12034326
Chromosome Location	chr1:155214473-155214474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:565)
CpG islands
(count:61)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:565 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr1:155214199-155214727	MCF-7	breast:	n/a	n/a
2	MAX	chr1:155213857-155215092	A549	lung:	n/a	n/a
3	JUND	chr1:155214454-155214823	HepG2	liver:	n/a	chr1:155214534-155214543 chr1:155214497-155214504
4	YY1	chr1:155214138-155215061	NT2-D1	testis:	n/a	n/a
5	TEAD4	chr1:155214425-155215141	H1-hESC	embryonic stem cell:	n/a	n/a
6	RFX5	chr1:155214250-155214974	Hela-S3	cervix:	n/a	n/a
7	SIN3AK20	chr1:155214074-155215000	MCF-7	breast:	n/a	n/a
8	POLR2A	chr1:155214059-155215025	NB4	blood:	n/a	n/a
9	EBF1	chr1:155214254-155215002	GM12878	blood:	n/a	n/a
10	ZBTB7A	chr1:155214236-155214897	ECC-1	luminal epithelium:	n/a	n/a
11	REST	chr1:155214222-155214946	K562	blood:	n/a	n/a
12	CHD1	chr1:155214024-155215147	IMR90	lung:	n/a	n/a
13	POLR2A	chr1:155214077-155215033	Gliobla	brain:	n/a	n/a
14	CTCF	chr1:155214003-155214797	K562	blood:	n/a	n/a
15	GABPA	chr1:155214134-155214828	K562	blood:	n/a	chr1:155214677-155214691 chr1:155214680-155214691
16	SP4	chr1:155214198-155214849	H1-hESC	embryonic stem cell:	n/a	n/a
17	TAF1	chr1:155214205-155214971	GM12892	blood:	n/a	n/a
18	TAF1	chr1:155214197-155214911	GM12891	blood:	n/a	n/a
19	CTCF	chr1:155214380-155214530	GM12874	blood:	n/a	n/a
20	E2F4	chr1:155214234-155214948	K562	blood:	n/a	chr1:155214698-155214710 chr1:155214699-155214706 chr1:155214681-155214690 chr1:155214667-155214678 chr1:155214699-155214706 chr1:155214697-155214708 chr1:155214699-155214706 chr1:155214698-155214707
21	POLR2A	chr1:155212719-155215270	PFSK-1	brain:	n/a	n/a
22	E2F6	chr1:155214437-155214933	K562	blood:	n/a	chr1:155214698-155214710 chr1:155214699-155214706 chr1:155214681-155214690 chr1:155214699-155214706 chr1:155214699-155214706 chr1:155214698-155214707 chr1:155214697-155214708
23	MYC	chr1:155214345-155214833	MCF10A-Er-Src	breast:	n/a	n/a
24	RCOR1	chr1:155214251-155214943	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr1:155214253-155214828	H1-hESC	embryonic stem cell:	n/a	n/a
26	FOSL2	chr1:155214048-155215002	A549	lung:	n/a	chr1:155214534-155214543 chr1:155214497-155214504
27	MYC	chr1:155214465-155214751	MCF10A-Er-Src	breast:	n/a	n/a
28	RAD21	chr1:155214214-155214761	ECC-1	luminal epithelium:	n/a	chr1:155214449-155214462
29	POLR2A	chr1:155214152-155215023	GM19099	blood:	n/a	n/a
30	POLR2A	chr1:155214226-155214919	K562	blood:	n/a	n/a
31	USF2	chr1:155214325-155214702	GM12878	blood:	n/a	n/a
32	GTF2F1	chr1:155214272-155214878	H1-hESC	embryonic stem cell:	n/a	n/a
33	TAF7	chr1:155214135-155214926	H1-hESC	embryonic stem cell:	n/a	n/a
34	TCF7L2	chr1:155214299-155214923	PANC-1	pancreas:	n/a	n/a
35	STAT3	chr1:155214470-155214791	MCF10A-Er-Src	breast:	n/a	n/a
36	ELK4	chr1:155214416-155214777	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr1:155214454-155215001	A549	lung:	n/a	n/a
38	EBF1	chr1:155214317-155214800	GM12878	blood:	n/a	n/a
39	MAX	chr1:155214143-155215200	H1-hESC	embryonic stem cell:	n/a	n/a
40	PML	chr1:155214092-155215019	K562	blood:	n/a	n/a
41	POLR2A	chr1:155214151-155215037	K562	blood:	n/a	n/a
42	CBX3	chr1:155213869-155215179	K562	blood:	n/a	n/a
43	USF1	chr1:155214225-155214863	ECC-1	luminal epithelium:	n/a	n/a
44	ZZZ3	chr1:155214414-155214921	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr1:155214056-155215097	MCF-7	breast:	n/a	n/a
46	CREB1	chr1:155214181-155215045	A549	lung:	n/a	n/a
47	CTCF	chr1:155214164-155214565	K562	blood:	n/a	n/a
48	POLR2A	chr1:155214205-155214987	SK-N-SH	brain:	n/a	n/a
49	MEF2C	chr1:155214167-155214787	GM12878	blood:	n/a	n/a
50	TEAD4	chr1:155214331-155214958	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155214425-155214475	AoSMC	blood vessel:	n/a
2	chr1:155214425-155214475	HEK293	kidney:	embryo
3	chr1:155214425-155214475	K562	blood:	n/a
4	chr1:155214425-155214475	GM12878	blood:	n/a
5	chr1:155214425-155214475	RPTEC	kidney:	n/a
6	chr1:155214425-155214475	BJ	skin:	n/a
7	chr1:155214425-155214475	AG10803	skin:	n/a
8	chr1:155214425-155214475	GM06990	blood:	n/a
9	chr1:155214425-155214475	HRPEpiC	eye:	n/a
10	chr1:155214425-155214475	SKMC	muscle:	n/a
11	chr1:155214425-155214475	GM12891	blood:	n/a
12	chr1:155214425-155214475	HUVEC	blood vessel:	n/a
13	chr1:155214425-155214475	HL-60	blood:	n/a
14	chr1:155214425-155214475	NH-A	brain:	n/a
15	chr1:155214425-155214475	NHDF-neo	bronchial:	n/a
16	chr1:155214425-155214475	SK-N-SH_RA	brain:	n/a
17	chr1:155214425-155214475	SK-N-MC	brain:	n/a
18	chr1:155214425-155214475	HRE	kidney:	n/a
19	chr1:155214425-155214475	MCF10A-Er-Src	breast:	n/a
20	chr1:155214425-155214475	HPAEpiC	pulmonary alveolar:	n/a
21	chr1:155214425-155214475	A549	lung:	n/a
22	chr1:155214425-155214475	CMK	blood:	n/a
23	chr1:155214425-155214475	HCPEpiC	choroid plexus:	n/a
24	chr1:155214425-155214475	MCF-7	breast:	n/a
25	chr1:155214425-155214475	HNPCEpiC	eye:	n/a
26	chr1:155214425-155214475	HMEC	breast:	n/a
27	chr1:155214425-155214475	HAEpiC	amniotic membrane:	n/a
28	chr1:155214425-155214475	SK-N-SH	brain:	n/a
29	chr1:155214425-155214475	HepG2	liver:	n/a
30	chr1:155214425-155214475	GM12892	blood:	n/a
31	chr1:155214425-155214475	LNCaP	prostate:	n/a
32	chr1:155214425-155214475	Jurkat	blood:	n/a
33	chr1:155214425-155214475	H1-hESC	embryonic stem cell:	embryo
34	chr1:155214425-155214475	HCM	heart:	n/a
35	chr1:155214425-155214475	PrEC	prostate:	n/a
36	chr1:155214425-155214475	NT2-D1	testis:	n/a
37	chr1:155214425-155214475	HEEpiC	esophagus:	n/a
38	chr1:155214425-155214475	T-47D	breast:	n/a
39	chr1:155214425-155214475	ProgFib	skin:	n/a
40	chr1:155214425-155214475	PFSK-1	brain:	n/a
41	chr1:155214425-155214475	HIPEpiC	eye:	n/a
42	chr1:155214425-155214475	Hepatocyte	liver:	n/a
43	chr1:155214425-155214475	BE2_C	brain:	n/a
44	chr1:155214425-155214475	SAEC	small airway:	n/a
45	chr1:155214425-155214475	ECC-1	luminal epithelium:	n/a
46	chr1:155214425-155214475	AG09319	gingival:	n/a
47	chr1:155214425-155214475	NHBE	bronchial:	n/a
48	chr1:155214425-155214475	NB4	blood:	n/a
49	chr1:155214425-155214475	AG04449	skin:	fetal
50	chr1:155214425-155214475	AG09309	skin:	n/a

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155200126..155202062-chr1:155213409..155215894,2	MCF-7	breast:
2	chr1:155209079..155212795-chr1:155212935..155216540,4	MCF-7	breast:
3	chr1:155213260..155215992-chr1:155291631..155293665,2	K562	blood:
4	chr1:155197117..155197977-chr1:155214252..155214763,4	MCF-7	breast:
5	chr1:155213691..155215819-chr1:155247024..155248547,2	MCF-7	breast:
6	chr1:155213237..155217995-chr1:155221685..155226391,8	MCF-7	breast:
7	chr1:155213885..155214571-chr2:65282830..65283726,2	NB4	blood:
8	chr1:155176888..155180042-chr1:155214260..155216336,5	K562	blood:
9	chr1:155211622..155214565-chr1:155278095..155280494,4	MCF-7	breast:
10	chr1:155212931..155218657-chr1:155240962..155244485,5	MCF-7	breast:
11	chr1:155174858..155180302-chr1:155209102..155215747,8	MCF-7	breast:
12	chr1:155213177..155216583-chr1:155242889..155246560,4	K562	blood:
13	chr1:155176431..155180791-chr1:155209413..155214573,7	MCF-7	breast:
14	chr1:155213191..155216225-chr1:155230341..155232984,3	MCF-7	breast:
15	chr1:155212049..155215843-chr1:155293307..155296856,5	MCF-7	breast:
16	chr1:150533710..150534533-chr1:155214061..155214778,2	Hela-S3	cervix:
17	chr1:155212781..155214911-chr1:155269991..155272165,2	K562	blood:
18	chr1:155213102..155215658-chr1:155292526..155295305,4	MCF-7	breast:
19	chr1:155213005..155216511-chr1:155292470..155296220,4	K562	blood:
20	chr1:155214449..155216184-chr1:155237561..155239532,2	MCF-7	breast:
21	chr1:153507973..153508488-chr1:155214304..155215138,2	Hela-S3	cervix:
22	chr1:155146543..155149271-chr1:155213227..155215655,2	K562	blood:
23	chr1:155176699..155181010-chr1:155210436..155216018,7	K562	blood:
24	chr1:155196821..155197823-chr1:155213854..155215193,5	NB4	blood:
25	chr1:155207800..155212678-chr1:155214121..155217855,6	K562	blood:
26	chr1:155213696..155217007-chr1:155289069..155291862,3	K562	blood:
27	chr1:155195600..155203152-chr1:155209955..155216515,9	MCF-7	breast:
28	chr1:155213935..155214771-chr6:26157834..26158708,2	Hela-S3	cervix:
29	chr1:155209487..155212728-chr1:155212760..155217156,9	MCF-7	breast:
30	chr1:155195599..155199380-chr1:155211353..155216703,7	MCF-7	breast:
31	chr1:155196871..155197993-chr1:155213605..155215251,6	Hela-S3	cervix:
32	chr1:155214376..155214923-chrX:7895084..7895772,2	Hela-S3	cervix:
33	chr1:155195406..155199356-chr1:155210414..155216260,10	K562	blood:
34	chr1:155209727..155212678-chr1:155212773..155217086,5	K562	blood:
35	chr1:155163241..155165710-chr1:155212950..155214666,2	MCF-7	breast:
36	chr1:155213885..155214847-chrX:134654507..134655032,2	NB4	blood:
37	chr1:155197109..155197807-chr1:155214053..155214771,4	HCT-116	colon:
38	chr1:155211690..155216212-chr1:155231766..155235735,5	MCF-7	breast:

No data

Variant related genes	Relation type
GBA	TF binding region
GBA	CpG island
ENSG00000169231	Chromatin interaction
ENSG00000225235	Chromatin interaction
ENSG00000011523	Chromatin interaction
ENSG00000006757	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000116521	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000163462	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000160767	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000143630	Chromatin interaction
ENSG00000236675	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000160752	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000173171	Chromatin interaction
ENSG00000143627	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000165359	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 21 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1045253	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1046188	0.87[ASN][1000 genomes]
rs1052176	0.83[ASN][1000 genomes]
rs1052177	0.83[ASN][1000 genomes]
rs1076556	0.87[ASN][1000 genomes]
rs1078699	0.87[ASN][1000 genomes]
rs10796940	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10908459	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11264343	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11264345	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264346	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11264348	0.87[ASN][1000 genomes]
rs11264349	0.85[ASN][1000 genomes]
rs11264352	0.85[ASN][1000 genomes]
rs11264353	0.85[ASN][1000 genomes]
rs11264359	0.85[CHB][hapmap]
rs1142287	0.87[ASN][1000 genomes]
rs11577338	0.86[ASN][1000 genomes]
rs12026638	0.84[CHB][hapmap]
rs12042020	0.83[ASN][1000 genomes]
rs12044063	0.83[ASN][1000 genomes]
rs12049375	0.86[ASN][1000 genomes]
rs12406363	0.86[ASN][1000 genomes]
rs12407919	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12563994	0.87[ASN][1000 genomes]
rs12723761	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12724449	0.85[ASN][1000 genomes]
rs12748155	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12749306	0.87[ASN][1000 genomes]
rs1546818	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1800438	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1800442	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1807042	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2009578	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2071053	0.83[ASN][1000 genomes]
rs2072647	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2075566	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2075569	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236863	0.87[ASN][1000 genomes]
rs2236864	0.83[ASN][1000 genomes]
rs2242576	0.86[ASN][1000 genomes]
rs2242577	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2297480	0.90[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap]
rs2361536	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2361543	0.86[ASN][1000 genomes]
rs28373017	0.92[ASN][1000 genomes]
rs28595322	0.87[ASN][1000 genomes]
rs3754485	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3768566	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3814318	0.82[ASN][1000 genomes]
rs3814319	0.82[ASN][1000 genomes]
rs4043	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4620533	0.83[ASN][1000 genomes]
rs56310840	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59352002	0.81[AMR][1000 genomes]
rs734073	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs734074	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs741756	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7520184	0.86[ASN][1000 genomes]
rs7549276	0.87[ASN][1000 genomes]
rs7554780	0.87[ASN][1000 genomes]
rs762488	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8177968	0.81[ASN][1000 genomes]
rs8847	0.83[ASN][1000 genomes]
rs932972	0.83[ASN][1000 genomes]
rs9628662	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9729564	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
4	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
5	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
6	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
7	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
8	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
9	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
10	esv13606	chr1:155180489-155221243	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
11	nsv1008748	chr1:155189148-155230610	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
12	nsv1011773	chr1:155189148-155234821	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
13	nsv8480	chr1:155206335-155214536	Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
14	nsv947198	chr1:155206997-155226440	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases
15	esv1832331	chr1:155213136-155271366	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:21)

SNP	Gene	Cis/trans	Tissue	Source
rs12034326	OAZ3	cis	parietal	SCAN
rs12034326	EFNA1	cis	cerebellum	SCAN
rs12034326	THBS3	cis	Whole Blood	GTEx
rs12034326	GBAP1	cis	Thyroid	GTEx
rs12034326	THEM5	cis	parietal	SCAN
rs12034326	THBS3	cis	cerebellum	SCAN
rs12034326	SPRR4	cis	parietal	SCAN
rs12034326	GBA	cis	lymphoblastoid	seeQTL
rs12034326	SNORA42	cis	parietal	SCAN
rs12034326	THBS3	cis	lung	GTEx
rs12034326	GBAP1	cis	parietal	SCAN
rs12034326	GBA	cis	Esophagus Mucosa	GTEx
rs12034326	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs12034326	GBA///GBAP	Cis_1M	lymphoblastoid	RTeQTL
rs12034326	ISG20L2	cis	cerebellum	SCAN
rs12034326	GBAP1	cis	Artery Tibial	GTEx
rs12034326	CRNN	cis	cerebellum	SCAN
rs12034326	SCNM1	cis	parietal	SCAN
rs12034326	GBA	cis	Whole Blood	GTEx
rs12034326	GBAP1	cis	Esophagus Mucosa	GTEx
rs12034326	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155211800-155214600	Weak transcription	HepG2	liver
2	chr1:155213000-155214800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:155213200-155214800	Active TSS	Fetal Kidney	kidney
4	chr1:155213200-155214800	Active TSS	Placenta Amnion	Placenta Amnion
5	chr1:155213200-155214800	Active TSS	A549	lung
6	chr1:155213200-155215000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:155213200-155215200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr1:155213200-155215200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:155213200-155215200	Active TSS	Rectal Smooth Muscle	rectum
10	chr1:155213200-155215200	Active TSS	Right Atrium	heart
11	chr1:155213200-155215400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:155213400-155214800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr1:155213400-155214800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:155213400-155214800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:155213400-155214800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:155213400-155214800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:155213400-155214800	Active TSS	Brain Anterior Caudate	brain
18	chr1:155213400-155214800	Active TSS	Fetal Intestine Small	intestine
19	chr1:155213400-155214800	Active TSS	Right Ventricle	heart
20	chr1:155213400-155214800	Active TSS	HSMM	muscle
21	chr1:155213400-155214800	Active TSS	NHDF-Ad	bronchial
22	chr1:155213400-155214800	Active TSS	NHLF	lung
23	chr1:155213400-155215000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:155213400-155215000	Active TSS	Aorta	Aorta
25	chr1:155213400-155215000	Active TSS	Fetal Brain Female	brain
26	chr1:155213400-155215000	Active TSS	Gastric	stomach
27	chr1:155213400-155215000	Active TSS	Lung	lung
28	chr1:155213400-155215200	Active TSS	Psoas Muscle	Psoas
29	chr1:155213400-155215400	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr1:155213600-155214600	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr1:155213600-155214600	Active TSS	Dnd41	blood
32	chr1:155213600-155214600	Active TSS	GM12878-XiMat	blood
33	chr1:155213600-155214800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:155213600-155214800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:155213600-155214800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:155213600-155214800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:155213600-155214800	Active TSS	Brain Cingulate Gyrus	brain
38	chr1:155213600-155214800	Active TSS	Brain Hippocampus Middle	brain
39	chr1:155213600-155214800	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr1:155213600-155214800	Active TSS	Brain Substantia Nigra	brain
41	chr1:155213600-155214800	Active TSS	Fetal Brain Male	brain
42	chr1:155213600-155214800	Active TSS	Fetal Muscle Leg	muscle
43	chr1:155213600-155215000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:155213600-155215000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:155213600-155215000	Active TSS	Brain Germinal Matrix	brain
46	chr1:155213600-155215000	Active TSS	Colon Smooth Muscle	Colon
47	chr1:155213600-155215000	Active TSS	Ovary	ovary
48	chr1:155213600-155215200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr1:155213600-155215200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:155213600-155215200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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