Variant report

Variant	rs11182917
Chromosome Location	chr12:45609094-45609095
allele	A/T
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	ZBTB7A	chr12:45608957-45610960	ECC-1	luminal epithelium:	n/a	chr12:45609279-45609288 chr12:45609386-45609393
2	POLR2A	chr12:45608943-45610124	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr12:45608992-45610855	GM18505	blood:	n/a	n/a
4	MEF2A	chr12:45608963-45609536	GM12878	blood:	n/a	chr12:45609060-45609074
5	MAZ	chr12:45609082-45611312	IMR90	lung:	n/a	chr12:45609719-45609728 chr12:45609717-45609728 chr12:45609720-45609727
6	POLR2A	chr12:45609089-45610785	A549	lung:	n/a	n/a
7	POLR2A	chr12:45609055-45610151	GM12891	blood:	n/a	n/a
8	STAT3	chr12:45608946-45609393	MCF10A-Er-Src	breast:	n/a	chr12:45609040-45609054 chr12:45609037-45609057 chr12:45609043-45609052 chr12:45609100-45609111 chr12:45609041-45609052 chr12:45609042-45609051
9	BCLAF1	chr12:45609028-45610665	GM12878	blood:	n/a	chr12:45609851-45609860 chr12:45610247-45610255
10	TRIM28	chr12:45609057-45609981	K562	blood:	n/a	n/a
11	TEAD4	chr12:45609003-45610232	ECC-1	luminal epithelium:	n/a	n/a
12	NRF1	chr12:45608889-45610373	SK-N-SH	brain:	n/a	chr12:45609268-45609277 chr12:45609752-45609761 chr12:45609864-45609878
13	RAD21	chr12:45609047-45609522	HepG2	liver:	n/a	chr12:45609157-45609164
14	ELF1	chr12:45609024-45610692	GM12878	blood:	n/a	chr12:45609881-45609893 chr12:45609854-45609866 chr12:45610364-45610376
15	ATF2	chr12:45609086-45609807	GM12878	blood:	n/a	n/a
16	PML	chr12:45609048-45609989	K562	blood:	n/a	n/a
17	FOXM1	chr12:45609026-45610011	GM12878	blood:	n/a	n/a
18	TBL1XR1	chr12:45608669-45609834	K562	blood:	n/a	n/a
19	CTCF	chr12:45609090-45609358	A549	lung:	n/a	n/a
20	MXI1	chr12:45608368-45612550	SK-N-SH	brain:	n/a	n/a
21	BCLAF1	chr12:45608935-45610353	GM12878	blood:	n/a	chr12:45609851-45609860 chr12:45610247-45610255
22	POLR2A	chr12:45609005-45610074	U87	brain:	n/a	n/a
23	POLR2A	chr12:45609042-45610887	K562	blood:	n/a	n/a
24	POLR2A	chr12:45609086-45610052	GM12891	blood:	n/a	n/a
25	TAF1	chr12:45608952-45611053	A549	lung:	n/a	n/a
26	RUNX3	chr12:45609060-45610905	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:45608917-45610881	HUVEC	blood vessel:	n/a	n/a
28	BACH1	chr12:45609093-45610370	H1-hESC	embryonic stem cell:	n/a	n/a
29	NFATC1	chr12:45609077-45609941	GM12878	blood:	n/a	n/a
30	MAX	chr12:45609002-45610891	HepG2	liver:	n/a	chr12:45609719-45609728 chr12:45609717-45609728 chr12:45609720-45609727
31	SIN3AK20	chr12:45608993-45609991	A549	lung:	n/a	n/a
32	MBD4	chr12:45609030-45610203	HepG2	liver:	n/a	n/a
33	EP300	chr12:45608977-45610080	A549	lung:	n/a	chr12:45609855-45609864 chr12:45609798-45609807 chr12:45609246-45609259
34	HEY1	chr12:45609011-45610346	HepG2	liver:	n/a	n/a
35	MXI1	chr12:45608503-45611067	IMR90	lung:	n/a	n/a
36	ELF1	chr12:45609082-45609979	HepG2	liver:	n/a	chr12:45609881-45609893 chr12:45609854-45609866
37	TAF1	chr12:45609093-45610133	K562	blood:	n/a	n/a
38	MAX	chr12:45609027-45610712	ECC-1	luminal epithelium:	n/a	chr12:45609719-45609728 chr12:45609717-45609728 chr12:45609720-45609727
39	ELF1	chr12:45609062-45609961	A549	lung:	n/a	chr12:45609881-45609893 chr12:45609854-45609866
40	EP300	chr12:45608955-45610809	SK-N-SH	brain:	n/a	chr12:45609855-45609864 chr12:45609798-45609807 chr12:45609246-45609259 chr12:45610289-45610305 chr12:45610313-45610329
41	TBP	chr12:45608763-45609983	GM12878	blood:	n/a	n/a
42	MYC	chr12:45608653-45611038	NB4	blood:	n/a	chr12:45609719-45609728 chr12:45609717-45609728 chr12:45609720-45609727
43	ELF1	chr12:45609014-45610146	MCF-7	breast:	n/a	chr12:45609881-45609893 chr12:45609854-45609866
44	CHD1	chr12:45608396-45612092	IMR90	lung:	n/a	chr12:45610369-45610379
45	REST	chr12:45609058-45610836	H1-neurons	neurons:	n/a	chr12:45610024-45610037 chr12:45609949-45609969 chr12:45610020-45610040 chr12:45610027-45610040 chr12:45610024-45610037 chr12:45610387-45610400
46	POLR2A	chr12:45609005-45610150	SK-N-MC	brain:	n/a	n/a
47	SMC3	chr12:45609084-45611175	Hela-S3	cervix:	n/a	chr12:45610021-45610031 chr12:45610350-45610360
48	POLR2A	chr12:45608982-45610231	GM12892	blood:	n/a	n/a
49	POLR2A	chr12:45608964-45610277	U87	brain:	n/a	n/a
50	MAX	chr12:45609033-45611251	NB4	blood:	n/a	chr12:45609719-45609728 chr12:45609717-45609728 chr12:45609720-45609727

No.	Distal block	Cell Line	Cell type
1	chr12:45608238..45611148-chr12:46119877..46124655,5	K562	blood:
2	chr12:45593253..45599943-chr12:45607385..45612735,9	MCF-7	breast:
3	chr12:45607714..45610119-chr12:46385742..46387348,2	K562	blood:
4	chr12:45606663..45609233-chr12:45722642..45725122,2	K562	blood:

Variant related genes	Relation type
ANO6	TF binding region
ENSG00000189079	Chromatin interaction
ENSG00000273015	Chromatin interaction
ENSG00000139218	Chromatin interaction
ENSG00000257738	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10437984	0.91[EUR][1000 genomes]
rs10459293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10459294	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10459295	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10492284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10785556	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10785557	0.91[EUR][1000 genomes]
rs10880757	0.84[ASN][1000 genomes]
rs10880758	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10880760	0.91[EUR][1000 genomes]
rs10880761	0.89[EUR][1000 genomes]
rs10880762	0.91[EUR][1000 genomes]
rs10880763	0.91[EUR][1000 genomes]
rs10880764	0.91[EUR][1000 genomes]
rs10880765	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10880766	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10880768	0.80[AMR][1000 genomes]
rs11182898	0.91[ASN][1000 genomes]
rs11182899	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11182903	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182904	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182905	0.81[EUR][1000 genomes]
rs11182908	0.81[EUR][1000 genomes]
rs11182912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182913	0.91[EUR][1000 genomes]
rs11182916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182918	0.91[EUR][1000 genomes]
rs11182919	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182921	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182922	0.91[EUR][1000 genomes]
rs11182923	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182927	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182935	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182936	0.91[EUR][1000 genomes]
rs11182938	0.91[EUR][1000 genomes]
rs11182939	0.91[EUR][1000 genomes]
rs11182940	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182942	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182943	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182944	0.91[EUR][1000 genomes]
rs11182946	0.91[EUR][1000 genomes]
rs11182947	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182949	0.89[EUR][1000 genomes]
rs11182953	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182954	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182955	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182957	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11182961	0.80[AMR][1000 genomes]
rs11182965	0.80[AMR][1000 genomes]
rs11182966	0.80[AMR][1000 genomes]
rs11182969	0.80[AMR][1000 genomes]
rs11182970	0.80[AMR][1000 genomes]
rs11182973	0.80[AMR][1000 genomes]
rs11182974	0.80[AMR][1000 genomes]
rs11182981	0.80[AMR][1000 genomes]
rs11561532	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11610233	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11611509	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612203	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612233	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614082	0.80[AMR][1000 genomes]
rs11614089	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11615850	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12226944	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12228399	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12228733	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12230322	0.91[EUR][1000 genomes]
rs12231753	0.81[EUR][1000 genomes]
rs12299174	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12320168	0.91[EUR][1000 genomes]
rs12320437	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322087	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12814332	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12815115	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12815334	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12815723	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12818421	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12822746	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828052	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095551	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052602	0.91[EUR][1000 genomes]
rs2052603	0.89[EUR][1000 genomes]
rs2408184	0.91[EUR][1000 genomes]
rs2408185	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34024171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34759896	0.80[AMR][1000 genomes]
rs35032811	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35054776	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35400022	0.80[AMR][1000 genomes]
rs35588430	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35660715	0.91[EUR][1000 genomes]
rs3759077	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759080	0.91[EUR][1000 genomes]
rs3759081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759082	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782131	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57560057	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57797434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923825	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61923830	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138983	0.87[EUR][1000 genomes]
rs7954282	0.90[ASN][1000 genomes]
rs7963038	0.91[EUR][1000 genomes]
rs7963057	0.91[EUR][1000 genomes]
rs9739519	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45608000-45611800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr12:45608200-45609200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:45608200-45611800	Active TSS	HMEC	breast
4	chr12:45608200-45612400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr12:45608400-45609200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr12:45608400-45609800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr12:45608400-45610000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:45608400-45610800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:45608400-45611400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:45608400-45611400	Active TSS	Muscle Satellite Cultured Cells	--
11	chr12:45608400-45611400	Active TSS	Adipose Nuclei	Adipose
12	chr12:45608400-45611600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:45608400-45611600	Active TSS	K562	blood
14	chr12:45608400-45611800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr12:45608400-45611800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:45608400-45611800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:45608400-45611800	Active TSS	NHDF-Ad	bronchial
18	chr12:45608400-45612200	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr12:45608400-45612400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:45608400-45613400	Active TSS	Stomach Smooth Muscle	stomach
21	chr12:45608600-45609200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:45608600-45609400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr12:45608600-45609600	Active TSS	Right Atrium	heart
24	chr12:45608600-45610000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:45608600-45610200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:45608600-45610600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:45608600-45610800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr12:45608600-45611000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:45608600-45611400	Active TSS	Brain Hippocampus Middle	brain
30	chr12:45608600-45611400	Active TSS	Fetal Heart	heart
31	chr12:45608600-45611400	Active TSS	Fetal Kidney	kidney
32	chr12:45608600-45611400	Active TSS	Thymus	Thymus
33	chr12:45608600-45611600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr12:45608600-45611600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:45608600-45611600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:45608600-45611600	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr12:45608600-45611600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:45608600-45611600	Active TSS	Fetal Lung	lung
39	chr12:45608600-45611600	Active TSS	Fetal Muscle Trunk	muscle
40	chr12:45608600-45611600	Active TSS	Fetal Stomach	stomach
41	chr12:45608600-45611800	Active TSS	H1 Cell Line	embryonic stem cell
42	chr12:45608600-45611800	Active TSS	Placenta	Placenta
43	chr12:45608600-45611800	Active TSS	Left Ventricle	heart
44	chr12:45608600-45611800	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr12:45608600-45611800	Active TSS	HSMM	muscle
46	chr12:45608600-45611800	Active TSS	HSMMtube	muscle
47	chr12:45608600-45612000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:45608600-45612000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:45608600-45612000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:45608600-45612000	Active TSS	Fetal Intestine Small	intestine

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