Variant report

Variant	rs12531636
Chromosome Location	chr7:112090290-112090291
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXP2	chr7:112090158-112090564	SK-N-MC	brain:	n/a	n/a
2	ELF1	chr7:112089787-112091603	MCF-7	breast:	n/a	chr7:112090582-112090594 chr7:112090278-112090290 chr7:112090852-112090861
3	POLR2A	chr7:112089864-112091716	HUVEC	blood vessel:	n/a	n/a
4	REST	chr7:112090015-112090672	SK-N-SH	brain:	n/a	n/a
5	PML	chr7:112090180-112091429	GM12878	blood:	n/a	n/a
6	ZBTB33	chr7:112089911-112091556	SK-N-SH	brain:	n/a	chr7:112091005-112091020
7	TAF1	chr7:112089871-112091442	ECC-1	luminal epithelium:	n/a	n/a
8	HDAC2	chr7:112090085-112091625	MCF-7	breast:	n/a	chr7:112091534-112091553
9	HCFC1	chr7:112089902-112091637	K562	blood:	n/a	n/a
10	ETS1	chr7:112090105-112091186	GM12878	blood:	n/a	chr7:112090911-112090918 chr7:112090364-112090377 chr7:112090909-112090922 chr7:112090974-112090987 chr7:112090849-112090860 chr7:112091010-112091019 chr7:112090910-112090923 chr7:112090973-112090986
11	HA-E2F1	chr7:112090038-112091604	MCF-7	breast:	n/a	chr7:112090849-112090858 chr7:112090463-112090472 chr7:112090192-112090201 chr7:112090850-112090860 chr7:112090461-112090470 chr7:112091406-112091415
12	GABPA	chr7:112089777-112091325	MCF-7	breast:	n/a	chr7:112090449-112090458
13	MYC	chr7:112089965-112091548	Hela-S3	cervix:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
14	CEBPD	chr7:112090213-112091289	K562	blood:	n/a	n/a
15	CEBPB	chr7:112090018-112090870	GM12878	blood:	n/a	n/a
16	NFIC	chr7:112090074-112091309	GM12878	blood:	n/a	n/a
17	TAF1	chr7:112090287-112091359	A549	lung:	n/a	n/a
18	MAZ	chr7:112089830-112091684	IMR90	lung:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
19	POLR2A	chr7:112089968-112092839	IMR90	lung:	n/a	n/a
20	EBF1	chr7:112089943-112090428	GM12878	blood:	n/a	n/a
21	TCF7L2	chr7:112089142-112091665	Hela-S3	cervix:	n/a	chr7:112089574-112089588 chr7:112089330-112089346 chr7:112089573-112089589 chr7:112089334-112089343 chr7:112089546-112089555 chr7:112089331-112089345 chr7:112089573-112089589 chr7:112089547-112089556 chr7:112089576-112089585 chr7:112089406-112089415 chr7:112089330-112089346 chr7:112089577-112089586
22	ZNF143	chr7:112089743-112091572	GM12878	blood:	n/a	chr7:112090298-112090317 chr7:112090358-112090376 chr7:112090982-112090997 chr7:112090912-112090921 chr7:112090851-112090861 chr7:112090294-112090312 chr7:112090910-112090919 chr7:112090296-112090305 chr7:112090301-112090316 chr7:112090979-112090998 chr7:112090975-112090984 chr7:112090037-112090056 chr7:112090977-112090986 chr7:112090903-112090921 chr7:112090975-112090993 chr7:112090365-112090374
23	SP1	chr7:112089934-112091190	GM12878	blood:	n/a	chr7:112090277-112090291 chr7:112090207-112090218 chr7:112090208-112090218 chr7:112090447-112090459 chr7:112090448-112090458 chr7:112090449-112090458 chr7:112090448-112090458 chr7:112090387-112090396 chr7:112090448-112090457 chr7:112090447-112090459 chr7:112091060-112091069 chr7:112091055-112091069
24	JUND	chr7:112089972-112091580	H1-hESC	embryonic stem cell:	n/a	chr7:112090651-112090660 chr7:112090462-112090471 chr7:112091342-112091352
25	POLR2A	chr7:112089448-112092907	HepG2	liver:	n/a	n/a
26	TAF7	chr7:112090260-112091593	H1-hESC	embryonic stem cell:	n/a	n/a
27	YY1	chr7:112090086-112091447	ECC-1	luminal epithelium:	n/a	chr7:112090503-112090514 chr7:112090849-112090858 chr7:112090189-112090198 chr7:112090276-112090290
28	POLR2A	chr7:112089557-112091609	MCF10A-Er-Src	breast:	n/a	n/a
29	CREB1	chr7:112089842-112091775	K562	blood:	n/a	n/a
30	RAD21	chr7:112089969-112090364	H1-hESC	embryonic stem cell:	n/a	n/a
31	MYC	chr7:112089116-112091490	MCF10A-Er-Src	breast:	n/a	chr7:112091407-112091417 chr7:112090448-112090458 chr7:112089253-112089263
32	JUN	chr7:112089401-112090578	HepG2	liver:	n/a	chr7:112089546-112089555 chr7:112089546-112089556 chr7:112089566-112089574 chr7:112089545-112089557 chr7:112089882-112089891 chr7:112089547-112089556 chr7:112089547-112089554 chr7:112089884-112089893 chr7:112089883-112089892 chr7:112089886-112089895 chr7:112090462-112090471 chr7:112089885-112089894
33	CREB1	chr7:112090219-112090658	A549	lung:	n/a	n/a
34	SMC3	chr7:112089429-112091621	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr7:112090271-112091301	GM12891	blood:	n/a	n/a
36	JUND	chr7:112089365-112091754	K562	blood:	n/a	chr7:112089564-112089575 chr7:112089545-112089556 chr7:112089546-112089555 chr7:112089546-112089556 chr7:112089566-112089574 chr7:112089545-112089557 chr7:112089882-112089891 chr7:112089547-112089556 chr7:112089547-112089554 chr7:112089884-112089893 chr7:112089883-112089892 chr7:112090651-112090660 chr7:112089886-112089895 chr7:112090462-112090471 chr7:112089885-112089894 chr7:112091342-112091352
37	RELA	chr7:112090050-112091201	GM12892	blood:	n/a	n/a
38	MAFK	chr7:112089912-112091235	K562	blood:	n/a	n/a
39	MAX	chr7:112089844-112091557	SK-N-SH	brain:	n/a	chr7:112091407-112091417 chr7:112090448-112090458
40	POLR2A	chr7:112090034-112091622	GM12878	blood:	n/a	n/a
41	ZBTB33	chr7:112089921-112091600	SK-N-SH	brain:	n/a	chr7:112091005-112091020
42	SMARCC2	chr7:112088921-112091774	Hela-S3	cervix:	n/a	chr7:112089546-112089555 chr7:112090912-112090921 chr7:112089565-112089574 chr7:112090975-112090984 chr7:112089547-112089556
43	CREB1	chr7:112089976-112091572	A549	lung:	n/a	n/a
44	GTF2F1	chr7:112090099-112091506	K562	blood:	n/a	n/a
45	SIX5	chr7:112089953-112090648	K562	blood:	n/a	chr7:112090365-112090374 chr7:112090296-112090305
46	PML	chr7:112089834-112091330	K562	blood:	n/a	n/a
47	NFYA	chr7:112090217-112091220	Hela-S3	cervix:	n/a	n/a
48	TAF1	chr7:112089922-112091617	H1-neurons	neurons:	n/a	n/a
49	BCLAF1	chr7:112090028-112091259	GM12878	blood:	n/a	chr7:112090604-112090613
50	POLR2A	chr7:112090110-112091478	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:12903010..12903790-chr7:112090007..112090757,2	Hela-S3	cervix:
2	chr7:112089939..112090897-chr7:139025955..139026763,2	Hela-S3	cervix:
3	chr15:90727425..90728296-chr7:112090045..112090861,2	Hela-S3	cervix:
4	chr7:111977606..111981678-chr7:112089523..112092927,4	K562	blood:
5	chr7:112088993..112091963-chr7:112126130..112127853,2	K562	blood:
6	chr7:112089814..112090626-chr9:34048477..34049016,2	NB4	blood:
7	chr6:26123972..26124899-chr7:112090184..112091052,2	NB4	blood:
8	chr20:62496234..62496966-chr7:112090186..112090941,2	HCT-116	colon:
9	chr7:108166013..108168393-chr7:112089454..112090983,3	K562	blood:
10	chr7:112088943..112098465-chr7:112111106..112127214,31	K562	blood:
11	chr7:108208069..108211100-chr7:112089167..112092388,3	K562	blood:
12	chr1:45186963..45187579-chr7:112090184..112090837,2	NB4	blood:
13	chr7:112089441..112091037-chr7:112120327..112123054,3	MCF-7	breast:
14	chr14:102430606..102431411-chr7:112090122..112091051,2	Hela-S3	cervix:
15	chr1:43824177..43825163-chr7:112089854..112090755,2	Hela-S3	cervix:
16	chr7:112089471..112094125-chr7:112120459..112123941,5	MCF-7	breast:
17	chr7:112088811..112094041-chr7:112100770..112110657,18	MCF-7	breast:
18	chr7:106809261..106810145-chr7:112090174..112090995,2	Hela-S3	cervix:
19	chr7:112088410..112092985-chr7:112428999..112431698,4	K562	blood:
20	chr7:112047884..112050486-chr7:112089235..112093334,4	MCF-7	breast:
21	chr7:112089375..112094700-chr7:112096975..112100569,9	MCF-7	breast:
22	chr7:112048671..112054554-chr7:112088966..112092653,8	K562	blood:
23	chr7:111988628..111990958-chr7:112088614..112090854,2	MCF-7	breast:
24	chr17:5487007..5487804-chr7:112090222..112090980,2	NB4	blood:
25	chr7:111844189..111846735-chr7:112088922..112092289,7	K562	blood:
26	chr7:112059129..112067568-chr7:112088387..112093703,18	K562	blood:
27	chr7:112088410..112092033-chr7:112123451..112127009,4	MCF-7	breast:
28	chr17:46126076..46126786-chr7:112090237..112090948,2	Hela-S3	cervix:
29	chr20:42086468..42087223-chr7:112090290..112091034,2	Hela-S3	cervix:
30	chr7:111926950..111929480-chr7:112089962..112091558,2	K562	blood:
31	chr19:34286142..34287066-chr7:112090225..112091004,2	Hela-S3	cervix:
32	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:
33	chr2:136742530..136743520-chr7:112090071..112090958,2	Hela-S3	cervix:
34	chr7:112058693..112068099-chr7:112086961..112092875,22	MCF-7	breast:
35	chr1:245027268..245027941-chr7:112090106..112091282,3	Hela-S3	cervix:
36	chr7:112089239..112091876-chr7:112428390..112433191,6	K562	blood:
37	chr7:112089330..112091829-chr7:112756736..112758677,2	K562	blood:
38	chr12:50135163..50135777-chr7:112090225..112090886,2	Hela-S3	cervix:
39	chr10:91404532..91405251-chr7:112090121..112090948,2	NB4	blood:
40	chr3:151985921..151986483-chr7:112090268..112090918,2	MCF-7	breast:
41	chr7:112060645..112065287-chr7:112088150..112093147,11	K562	blood:
42	chr19:13264871..13267406-chr7:112089392..112090897,2	K562	blood:
43	chr7:112070004..112076448-chr7:112089182..112092278,11	K562	blood:
44	chr7:111379760..111381665-chr7:112090051..112092325,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180019	TF binding region
IFRD1	TF binding region
ENSG00000234694	Chromatin interaction
ENSG00000117399	Chromatin interaction
ENSG00000226851	Chromatin interaction
ENSG00000181016	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000269955	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000153187	Chromatin interaction
ENSG00000137073	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000185033	Chromatin interaction
ENSG00000197102	Chromatin interaction
ENSG00000095066	Chromatin interaction
ENSG00000115866	Chromatin interaction
ENSG00000198839	Chromatin interaction
ENSG00000249962	Chromatin interaction
ENSG00000202406	Chromatin interaction
ENSG00000231890	Chromatin interaction
ENSG00000006652	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000146802	Chromatin interaction
ENSG00000267598	Chromatin interaction
ENSG00000232936	Chromatin interaction
ENSG00000091592	Chromatin interaction
ENSG00000082641	Chromatin interaction
ENSG00000214194	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000124193	Chromatin interaction
ENSG00000177683	Chromatin interaction
ENSG00000152782	Chromatin interaction
ENSG00000105856	Chromatin interaction
ENSG00000153885	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000101150	Chromatin interaction
ENSG00000128512	Chromatin interaction
ENSG00000152601	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1005659	0.86[ASN][1000 genomes]
rs1005661	0.86[ASN][1000 genomes]
rs1024568	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1024569	0.86[ASN][1000 genomes]
rs1024570	0.85[ASN][1000 genomes]
rs1024572	0.86[ASN][1000 genomes]
rs10260414	0.86[ASN][1000 genomes]
rs1029631	0.86[ASN][1000 genomes]
rs10487291	0.80[AMR][1000 genomes]
rs10500007	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1054043	0.86[ASN][1000 genomes]
rs10953712	0.85[ASN][1000 genomes]
rs10953713	0.86[ASN][1000 genomes]
rs11514940	0.86[ASN][1000 genomes]
rs11764489	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11769604	0.85[ASN][1000 genomes]
rs12154294	0.86[ASN][1000 genomes]
rs12531101	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539263	0.86[ASN][1000 genomes]
rs1468457	0.86[ASN][1000 genomes]
rs1468458	0.86[ASN][1000 genomes]
rs17132179	0.80[AMR][1000 genomes]
rs17159684	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17159686	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1963308	0.86[ASN][1000 genomes]
rs2190587	0.86[ASN][1000 genomes]
rs2396541	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2396542	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3095035	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34633971	0.86[ASN][1000 genomes]
rs36095669	0.86[ASN][1000 genomes]
rs3807206	0.86[ASN][1000 genomes]
rs3807210	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3807213	0.86[ASN][1000 genomes]
rs4275157	0.92[ASN][1000 genomes]
rs4727771	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4727774	0.86[ASN][1000 genomes]
rs4730548	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4730549	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55954386	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56020731	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6944364	0.92[ASN][1000 genomes]
rs6945176	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6956741	0.80[AMR][1000 genomes]
rs6963343	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6967593	0.94[ASN][1000 genomes]
rs6967894	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6968084	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6973615	0.86[ASN][1000 genomes]
rs73201469	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7455170	0.86[ASN][1000 genomes]
rs7777925	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7817	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv1801262	chr7:112071795-112104179	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112089000-112091200	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr7:112089200-112092600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:112089400-112092200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:112089600-112090400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr7:112089600-112090400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr7:112089600-112091800	Active TSS	Fetal Lung	lung
7	chr7:112089600-112091800	Active TSS	Stomach Mucosa	stomach
8	chr7:112089600-112092400	Active TSS	Fetal Intestine Small	intestine
9	chr7:112089600-112092600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr7:112089600-112092800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr7:112089600-112092800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:112089600-112092800	Active TSS	Fetal Kidney	kidney
13	chr7:112089600-112093000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:112089600-112093000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:112089600-112093400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:112089600-112094000	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr7:112089600-112094200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:112089600-112094200	Active TSS	Psoas Muscle	Psoas
19	chr7:112089800-112091000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:112089800-112091800	Active TSS	Placenta	Placenta
21	chr7:112089800-112092200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:112089800-112092200	Active TSS	Brain Substantia Nigra	brain
23	chr7:112089800-112092200	Active TSS	Fetal Stomach	stomach
24	chr7:112089800-112092600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:112089800-112092600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:112089800-112092600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:112089800-112092600	Active TSS	Brain Cingulate Gyrus	brain
28	chr7:112089800-112092600	Active TSS	Esophagus	oesophagus
29	chr7:112089800-112092600	Active TSS	Lung	lung
30	chr7:112089800-112092800	Active TSS	Ovary	ovary
31	chr7:112089800-112092800	Active TSS	Pancreas	Pancrea
32	chr7:112089800-112093000	Active TSS	H1 Cell Line	embryonic stem cell
33	chr7:112089800-112093000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:112089800-112093000	Active TSS	Aorta	Aorta
35	chr7:112089800-112093000	Active TSS	Colon Smooth Muscle	Colon
36	chr7:112089800-112093000	Active TSS	Left Ventricle	heart
37	chr7:112089800-112093200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:112089800-112093400	Active TSS	A549	lung
39	chr7:112089800-112093600	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr7:112089800-112093600	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr7:112089800-112094400	Active TSS	Right Ventricle	heart
42	chr7:112089800-112094800	Active TSS	GM12878-XiMat	blood
43	chr7:112090000-112090600	Active TSS	Brain Germinal Matrix	brain
44	chr7:112090000-112091400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:112090000-112091400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:112090000-112091400	Active TSS	Spleen	Spleen
47	chr7:112090000-112091600	Active TSS	Primary hematopoietic stem cells	blood
48	chr7:112090000-112091600	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr7:112090000-112091600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:112090000-112091600	Active TSS	Brain Anterior Caudate	brain

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