Variant report

Variant	nsv1005214
Chromosome Location	chr1:246730885-246841107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1770)
CpG islands
(count:1220)
Chromatin interactive
region (count:106)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1770 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:246730285-246730981	K562	blood:	n/a	n/a
2	ARID3A	chr1:246771887-246772580	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:246745910-246747280	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:246764620-246764838	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:246750866-246751299	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:246743156-246743547	K562	blood:	n/a	n/a
7	ARID3A	chr1:246739546-246739738	K562	blood:	n/a	n/a
8	ARID3A	chr1:246732646-246733496	K562	blood:	n/a	n/a
9	ARID3A	chr1:246750964-246751265	K562	blood:	n/a	n/a
10	ARID3A	chr1:246740858-246741585	K562	blood:	n/a	chr1:246741392-246741408 chr1:246741393-246741409
11	ARID3A	chr1:246740073-246740316	K562	blood:	n/a	n/a
12	ARID3A	chr1:246745375-246746415	K562	blood:	n/a	n/a
13	ATF1	chr1:246740996-246741399	K562	blood:	n/a	n/a
14	ATF1	chr1:246765537-246765784	K562	blood:	n/a	n/a
15	ATF1	chr1:246732872-246733329	K562	blood:	n/a	n/a
16	ATF1	chr1:246740536-246740756	K562	blood:	n/a	n/a
17	ATF1	chr1:246730636-246730930	K562	blood:	n/a	n/a
18	ATF1	chr1:246803049-246803274	K562	blood:	n/a	n/a
19	ATF1	chr1:246743229-246743481	K562	blood:	n/a	n/a
20	ATF2	chr1:246792272-246792758	GM12878	blood:	n/a	n/a
21	ATF2	chr1:246772219-246772612	GM12878	blood:	n/a	n/a
22	ATF2	chr1:246792236-246792998	GM12878	blood:	n/a	n/a
23	ATF2	chr1:246754425-246755257	GM12878	blood:	n/a	n/a
24	ATF2	chr1:246772194-246772640	GM12878	blood:	n/a	n/a
25	ATF3	chr1:246771952-246772531	A549	lung:	n/a	n/a
26	ATF3	chr1:246772292-246772578	K562	blood:	n/a	n/a
27	ATF3	chr1:246762589-246762988	K562	blood:	n/a	n/a
28	ATF3	chr1:246734658-246735052	K562	blood:	n/a	n/a
29	BACH1	chr1:246741033-246741336	K562	blood:	n/a	n/a
30	BACH1	chr1:246732997-246733252	K562	blood:	n/a	n/a
31	BACH1	chr1:246772042-246772205	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr1:246730812-246730950	H1-hESC	embryonic stem cell:	n/a	n/a
33	BATF	chr1:246793347-246793611	GM12878	blood:	n/a	n/a
34	BATF	chr1:246772255-246772623	GM12878	blood:	n/a	chr1:246772467-246772478
35	BATF	chr1:246772361-246772650	GM12878	blood:	n/a	chr1:246772467-246772478
36	BATF	chr1:246792324-246792693	GM12878	blood:	n/a	n/a
37	BATF	chr1:246793253-246793608	GM12878	blood:	n/a	n/a
38	BATF	chr1:246754839-246755255	GM12878	blood:	n/a	n/a
39	BATF	chr1:246792329-246792692	GM12878	blood:	n/a	n/a
40	BCLAF1	chr1:246740984-246741507	K562	blood:	n/a	n/a
41	BCLAF1	chr1:246754707-246755271	GM12878	blood:	n/a	n/a
42	BCLAF1	chr1:246792278-246792798	GM12878	blood:	n/a	n/a
43	BHLHE40	chr1:246732995-246733247	GM12878	blood:	n/a	n/a
44	BHLHE40	chr1:246772070-246772596	HepG2	liver:	n/a	n/a
45	BHLHE40	chr1:246736925-246737078	A549	lung:	n/a	n/a
46	BHLHE40	chr1:246772264-246772558	GM12878	blood:	n/a	n/a
47	BHLHE40	chr1:246732671-246732792	GM12878	blood:	n/a	n/a
48	BHLHE40	chr1:246754849-246755249	GM12878	blood:	n/a	n/a
49	BHLHE40	chr1:246739423-246739805	K562	blood:	n/a	chr1:246739593-246739614 chr1:246739599-246739608 chr1:246739597-246739610 chr1:246739599-246739608 chr1:246739600-246739609
50	BHLHE40	chr1:246734762-246735089	K562	blood:	n/a	n/a

(count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246733057-246733107	HIPEpiC	eye:	n/a
2	chr1:246787626-246787676	GM12892	blood:	n/a
3	chr1:246799582-246799632	AG04449	skin:	fetal
4	chr1:246768697-246768747	LNCaP	prostate:	n/a
5	chr1:246781432-246781482	H1-hESC	embryonic stem cell:	embryo
6	chr1:246783904-246783954	K562	blood:	n/a
7	chr1:246783198-246783248	RPTEC	kidney:	n/a
8	chr1:246741712-246741762	H1-hESC	embryonic stem cell:	embryo
9	chr1:246781432-246781482	ProgFib	skin:	n/a
10	chr1:246761343-246761393	HEEpiC	esophagus:	n/a
11	chr1:246783198-246783248	GM12891	blood:	n/a
12	chr1:246768697-246768747	PrEC	prostate:	n/a
13	chr1:246747488-246747538	NHBE	bronchial:	n/a
14	chr1:246831331-246831381	GM12892	blood:	n/a
15	chr1:246781432-246781482	PFSK-1	brain:	n/a
16	chr1:246795610-246795660	ProgFib	skin:	n/a
17	chr1:246772605-246772655	ovcar-3	ovarian:	n/a
18	chr1:246787626-246787676	HRE	kidney:	n/a
19	chr1:246781432-246781482	HL-60	blood:	n/a
20	chr1:246781432-246781482	A549	lung:	n/a
21	chr1:246768697-246768747	HEEpiC	esophagus:	n/a
22	chr1:246747488-246747538	GM12878	blood:	n/a
23	chr1:246783166-246783216	K562	blood:	n/a
24	chr1:246783198-246783248	HCM	heart:	n/a
25	chr1:246747488-246747538	Jurkat	blood:	n/a
26	chr1:246772605-246772655	HMEC	breast:	n/a
27	chr1:246781432-246781482	HPAEpiC	pulmonary alveolar:	n/a
28	chr1:246781432-246781482	HCT-116	colon:	n/a
29	chr1:246783518-246783568	BJ	skin:	n/a
30	chr1:246798258-246798308	HRPEpiC	eye:	n/a
31	chr1:246799582-246799632	HRCEpiC	kidney:	n/a
32	chr1:246783518-246783568	MCF-7	breast:	n/a
33	chr1:246741712-246741762	BE2_C	brain:	n/a
34	chr1:246783198-246783248	NH-A	brain:	n/a
35	chr1:246795610-246795660	Hepatocyte	liver:	n/a
36	chr1:246768697-246768747	HPAEpiC	pulmonary alveolar:	n/a
37	chr1:246795610-246795660	HL-60	blood:	n/a
38	chr1:246733057-246733107	PANC-1	pancreas:	n/a
39	chr1:246781432-246781482	HCM	heart:	n/a
40	chr1:246733057-246733107	NT2-D1	testis:	n/a
41	chr1:246770778-246770828	BJ	skin:	n/a
42	chr1:246747488-246747538	AG04450	lung:	fetal
43	chr1:246798258-246798308	HUVEC	blood vessel:	n/a
44	chr1:246733057-246733107	HMEC	breast:	n/a
45	chr1:246799582-246799632	ovcar-3	ovarian:	n/a
46	chr1:246798258-246798308	HRCEpiC	kidney:	n/a
47	chr1:246831331-246831381	GM19239	blood:	n/a
48	chr1:246747488-246747538	HEEpiC	esophagus:	n/a
49	chr1:246741712-246741762	HRE	kidney:	n/a
50	chr1:246783904-246783954	HMEC	breast:	n/a

(count:106 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:246803588..246807692-chr1:246815416..246819511,4	K562	blood:
2	chr1:246752045..246755966-chr1:246757431..246761107,6	K562	blood:
3	chr1:246765334..246768163-chr1:246769241..246772200,2	MCF-7	breast:
4	chr1:246746217..246748591-chr1:246759216..246761418,2	K562	blood:
5	chr1:246790522..246793411-chr1:246794361..246797146,2	K562	blood:
6	chr1:246828128..246831058-chr1:246844118..246846484,2	K562	blood:
7	chr1:246775147..246776815-chr1:246778943..246781797,2	K562	blood:
8	chr1:246668048..246670638-chr1:246738189..246740927,2	K562	blood:
9	chr1:246811207..246813895-chr1:246830093..246833035,2	K562	blood:
10	chr1:246822078..246824863-chr1:247030582..247033303,2	K562	blood:
11	chr1:246729967..246732161-chr22:19156837..19159425,2	K562	blood:
12	chr1:246759373..246761644-chr1:246764885..246767853,2	MCF-7	breast:
13	chr1:246756351..246758057-chr1:246763121..246765017,2	K562	blood:
14	chr1:246704378..246705938-chr1:246830141..246833108,2	K562	blood:
15	chr1:246746217..246748591-chr1:246759216..246761418,2	K562	blood:
16	chr1:246729017..246731987-chr1:246738180..246742192,5	MCF-7	breast:
17	chr1:246779828..246782694-chr1:246783827..246786516,2	K562	blood:
18	chr1:246751383..246754061-chr1:246756080..246758483,2	K562	blood:
19	chr1:246756351..246758057-chr1:246763121..246765017,2	K562	blood:
20	chr1:246763228..246766814-chr1:246773284..246776572,4	K562	blood:
21	chr1:246817586..246818454-chr1:246829878..246830575,2	K562	blood:
22	chr1:246728909..246731573-chr1:246733348..246738076,5	MCF-7	breast:
23	chr1:246727229..246731275-chr1:246773267..246778160,5	MCF-7	breast:
24	chr1:246770998..246772509-chr1:246887067..246889147,2	MCF-7	breast:
25	chr1:246809490..246812170-chr1:246921388..246923239,2	MCF-7	breast:
26	chr1:246810760..246814409-chr1:246816683..246820922,4	K562	blood:
27	chr1:246738601..246740180-chr1:246754340..246756772,2	MCF-7	breast:
28	chr1:246730131..246732589-chr1:246747162..246749763,2	MCF-7	breast:
29	chr1:246834497..246836021-chr1:246836490..246838405,2	K562	blood:
30	chr1:246805689..246809236-chr1:246811706..246814341,4	K562	blood:
31	chr1:246760433..246762324-chr1:246764692..246766796,2	MCF-7	breast:
32	chr1:246813415..246815262-chr1:246816849..246818678,2	K562	blood:
33	chr1:226185428..226188059-chr1:246740463..246742577,2	K562	blood:
34	chr1:246815669..246818664-chr1:246820426..246822139,2	K562	blood:
35	chr1:246272101..246273950-chr1:246817056..246818596,2	K562	blood:
36	chr1:246729554..246732513-chr1:246756122..246758610,2	K562	blood:
37	chr1:246774160..246776210-chr1:246811520..246814004,2	K562	blood:
38	chr1:246729146..246731033-chr1:246757632..246760401,2	MCF-7	breast:
39	chr1:246763228..246765698-chr1:246773126..246775909,3	K562	blood:
40	chr1:246752342..246755487-chr1:246758820..246761636,4	K562	blood:
41	chr1:246739822..246741667-chr1:246766063..246767788,2	K562	blood:
42	chr1:246765334..246768163-chr1:246769241..246772200,2	MCF-7	breast:
43	chr1:246763228..246766814-chr1:246773284..246776572,4	K562	blood:
44	chr1:246746503..246747122-chr1:246772184..246772879,2	MCF-7	breast:
45	chr1:246666744..246667331-chr1:246771870..246772573,2	MCF-7	breast:
46	chr1:246817289..246819425-chr1:246820924..246823201,2	MCF-7	breast:
47	chr1:246815669..246818664-chr1:246820426..246822139,2	K562	blood:
48	chr1:246759373..246761644-chr1:246764885..246767853,2	MCF-7	breast:
49	chr1:246834497..246836021-chr1:246836490..246838405,2	K562	blood:
50	chr1:246792973..246795440-chr1:246887335..246889540,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCCPDH-3	chr1:246831385-246831658	NONHSAT010714
2	lnc-SCCPDH-3	chr1:246830010-246830784	NONHSAT010714
3	lnc-TFB2M-4	chr1:246795553-246795685	NONHSAT010713
4	lnc-SCCPDH-2	chr1:246769175-246770642	ENSG00000225300.1
5	lnc-TFB2M-4	chr1:246795692-246795780	NONHSAT010713
6	lnc-SCCPDH-2	chr1:246770913-246771404	ENSG00000225300.1
7	lnc-TFB2M-5	chr1:246831977-246832419	NONHSAT010715
8	lnc-TFB2M-1	chr1:246831384-246831638	ENSG00000245759
9	lnc-TFB2M-1	chr1:246830009-246830785	ENSG00000245759

No data

Variant related genes	Relation type
TFB2M	TF binding region
ENSG00000228955	TF binding region
ENSG00000225300	TF binding region
ENSG00000260698	TF binding region
TFB2M	CpG island
ENSG00000228955	CpG island
ENSG00000225300	CpG island
ENSG00000260698	CpG island
ENSG00000143653	chromatin interactions
ENSG00000143751	chromatin interactions
ENSG00000225300	chromatin interactions
ENSG00000162851	chromatin interactions
ENSG00000185420	chromatin interactions
ENSG00000260698	chromatin interactions
ENSG00000228955	chromatin interactions
ENSG00000162852	chromatin interactions
ENSG00000260924	chromatin interactions
BRD3	miRNA target sites
ACVR2A	miRNA target sites

Extended variants
information (count: 4819 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:4819 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143775370	chr1:246730893-246730894	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs116117289	chr1:246730916-246730917	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148131055	chr1:246730919-246730920	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs530515405	chr1:246730921-246730922	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs550636033	chr1:246730936-246730937	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs570212248	chr1:246730944-246730945	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs536148987	chr1:246730964-246730965	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs141937398	chr1:246730973-246730974	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs527697450	chr1:246730998-246730999	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs193061577	chr1:246731005-246731006	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557828934	chr1:246731084-246731085	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs541790949	chr1:246731091-246731092	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs150756305	chr1:246731110-246731111	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs570077036	chr1:246731193-246731194	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs577758069	chr1:246731208-246731209	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs150120939	chr1:246731213-246731214	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs552140955	chr1:246731223-246731224	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs557331094	chr1:246731239-246731240	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs138718850	chr1:246731259-246731260	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs368426896	chr1:246731282-246731283	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs12748061	chr1:246731303-246731304	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548892063	chr1:246731304-246731305	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs142719072	chr1:246731314-246731315	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs147341233	chr1:246731341-246731342	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs564962204	chr1:246731386-246731387	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs570869909	chr1:246731387-246731388	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs139791569	chr1:246731401-246731402	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs143698520	chr1:246731501-246731502	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs185577638	chr1:246731504-246731505	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs144130212	chr1:246731557-246731558	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs190451972	chr1:246731561-246731562	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs556983853	chr1:246731705-246731706	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs181635029	chr1:246731793-246731794	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs186277835	chr1:246731804-246731805	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs75370994	chr1:246731822-246731823	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs546818281	chr1:246731896-246731897	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs113572812	chr1:246731926-246731927	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs188640169	chr1:246731927-246731928	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs550149249	chr1:246731947-246731948	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs79394776	chr1:246731970-246731971	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs573965715	chr1:246732076-246732077	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs372695792	chr1:246732083-246732084	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs536280189	chr1:246732088-246732089	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs553231031	chr1:246732102-246732103	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs573216375	chr1:246732105-246732106	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs376511370	chr1:246732115-246732116	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs545183968	chr1:246732116-246732117	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs142165260	chr1:246732139-246732140	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs151074060	chr1:246732141-246732142	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs140055910	chr1:246732163-246732164	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4369 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246727600-246731400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:246727800-246731000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:246727800-246731200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:246727800-246731200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:246727800-246731200	Active TSS	Osteobl	bone
6	chr1:246727800-246731400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:246727800-246732000	Active TSS	NHLF	lung
8	chr1:246728000-246731000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:246728000-246731000	Active TSS	A549	lung
10	chr1:246728000-246731400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:246728000-246732600	Active TSS	K562	blood
12	chr1:246728200-246731000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:246728200-246731000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:246728200-246731000	Active TSS	Fetal Kidney	kidney
15	chr1:246728200-246731200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr1:246728200-246731200	Active TSS	NHDF-Ad	bronchial
17	chr1:246728200-246731400	Active TSS	Psoas Muscle	Psoas
18	chr1:246728200-246731400	Active TSS	Right Atrium	heart
19	chr1:246728400-246731000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr1:246728400-246731000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr1:246728400-246731200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr1:246728400-246731200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:246728400-246731200	Active TSS	Right Ventricle	heart
24	chr1:246728400-246731400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:246728400-246731400	Active TSS	Aorta	Aorta
26	chr1:246728600-246731000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:246728600-246731000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:246728600-246731000	Active TSS	HSMM	muscle
29	chr1:246728600-246731000	Active TSS	HSMMtube	muscle
30	chr1:246728600-246731200	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr1:246728600-246731200	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:246728600-246731200	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr1:246728600-246731200	Active TSS	GM12878-XiMat	blood
34	chr1:246728600-246731400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:246728600-246731400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:246728600-246731400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr1:246728800-246731000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:246728800-246731000	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr1:246728800-246731000	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr1:246728800-246731000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:246728800-246731000	Active TSS	Colon Smooth Muscle	Colon
42	chr1:246728800-246731200	Active TSS	Brain Cingulate Gyrus	brain
43	chr1:246728800-246731200	Active TSS	Fetal Intestine Small	intestine
44	chr1:246728800-246732000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:246729000-246731000	Active TSS	Fetal Brain Male	brain
46	chr1:246729000-246731000	Active TSS	Fetal Muscle Leg	muscle
47	chr1:246729000-246731200	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr1:246729000-246731200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:246729000-246731200	Active TSS	Brain Angular Gyrus	brain
50	chr1:246729000-246731200	Active TSS	Thymus	Thymus

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