Variant report

Variant	rs17132534
Chromosome Location	chr11:73691774-73691775
allele	C/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	NR2F2	chr11:73691597-73692069	K562	blood:	n/a	n/a
2	ARID3A	chr11:73691317-73691909	K562	blood:	n/a	n/a
3	TBL1XR1	chr11:73691028-73691968	K562	blood:	n/a	n/a
4	POU2F2	chr11:73690950-73692072	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:73690682-73692146	GM12892	blood:	n/a	n/a
6	ATF1	chr11:73691041-73692016	K562	blood:	n/a	n/a
7	WRNIP1	chr11:73690922-73692874	GM12878	blood:	n/a	n/a
8	ZNF143	chr11:73691103-73691925	K562	blood:	n/a	chr11:73691618-73691636
9	RUNX3	chr11:73690811-73691815	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:73690944-73692051	Raji	blood:	n/a	n/a
11	EBF1	chr11:73690985-73691842	GM12878	blood:	n/a	chr11:73691218-73691229 chr11:73691167-73691178
12	POLR2A	chr11:73690723-73695117	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:73690936-73695497	HL-60	blood:	n/a	n/a
14	POLR2A	chr11:73691608-73692179	K562	blood:	n/a	n/a
15	POLR2A	chr11:73690904-73691937	GM12892	blood:	n/a	n/a
16	POLR2A	chr11:73690913-73691895	GM12892	blood:	n/a	n/a
17	MAX	chr11:73691068-73691950	GM12878	blood:	n/a	chr11:73691345-73691354 chr11:73691429-73691438
18	POLR2A	chr11:73690701-73692014	GM12891	blood:	n/a	n/a
19	POLR2A	chr11:73690991-73692064	K562	blood:	n/a	n/a
20	NR2F2	chr11:73690799-73692561	K562	blood:	n/a	n/a
21	CHD1	chr11:73690986-73692950	GM12878	blood:	n/a	n/a
22	RELA	chr11:73690964-73692956	GM19099	blood:	n/a	n/a
23	POLR2A	chr11:73678522-73695046	PBDE	blood:	n/a	n/a
24	SPI1	chr11:73690754-73691806	GM12878	blood:	n/a	chr11:73691369-73691378 chr11:73691370-73691377
25	NFATC1	chr11:73690754-73691909	GM12878	blood:	n/a	n/a
26	CEBPB	chr11:73691752-73692050	K562	blood:	n/a	n/a
27	IRF4	chr11:73690971-73691961	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:73690795-73694906	GM12892	blood:	n/a	n/a
29	POLR2A	chr11:73690890-73692034	GM12878	blood:	n/a	n/a
30	JUND	chr11:73691017-73692041	K562	blood:	n/a	n/a
31	MAX	chr11:73691072-73691963	K562	blood:	n/a	chr11:73691345-73691354 chr11:73691429-73691438
32	RCOR1	chr11:73690988-73691805	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:73690873-73693286	GM18505	blood:	n/a	n/a
34	GATA1	chr11:73690835-73693374	PBDE	blood:	n/a	chr11:73691173-73691183 chr11:73691780-73691789 chr11:73691026-73691036 chr11:73690905-73690912 chr11:73691323-73691330 chr11:73691781-73691798
35	RCOR1	chr11:73690997-73692199	K562	blood:	n/a	n/a
36	RUNX3	chr11:73690877-73692103	GM12878	blood:	n/a	n/a
37	BHLHE40	chr11:73691715-73691929	K562	blood:	n/a	n/a
38	POLR2A	chr11:73690906-73692030	K562	blood:	n/a	n/a
39	POLR2A	chr11:73687423-73695032	GM12891	blood:	n/a	n/a
40	POLR2A	chr11:73690892-73693113	GM12878	blood:	n/a	n/a
41	POLR2A	chr11:73690745-73693042	K562	blood:	n/a	n/a
42	POLR2A	chr11:73688951-73694645	GM12878	blood:	n/a	n/a
43	POLR2A	chr11:73690952-73692045	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:73690740-73692094	GM12891	blood:	n/a	n/a
45	RCOR1	chr11:73691711-73692053	K562	blood:	n/a	n/a
46	MTA3	chr11:73690563-73695143	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:73690890-73694865	GM19193	blood:	n/a	n/a
48	HDAC2	chr11:73691735-73692001	K562	blood:	n/a	chr11:73691735-73691744
49	TEAD4	chr11:73690915-73692347	K562	blood:	n/a	chr11:73691912-73691921
50	UBTF	chr11:73690944-73691950	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73586614..73588298-chr11:73691679..73694031,2	MCF-7	breast:
2	chr11:73691320..73695538-chr11:73704392..73710067,8	MCF-7	breast:
3	chr11:73691455..73695821-chr11:73881160..73884452,10	K562	blood:
4	chr11:73661884..73663494-chr11:73691354..73693894,2	MCF-7	breast:
5	chr11:73691101..73695528-chr11:73777647..73786599,14	MCF-7	breast:
6	chr11:73584965..73587189-chr11:73691735..73694698,2	K562	blood:
7	chr11:73690232..73696227-chr11:73800984..73805427,5	MCF-7	breast:
8	chr11:73691754..73696567-chr11:73778152..73784121,11	MCF-7	breast:
9	chr11:73690208..73697157-chr11:73720249..73724103,9	K562	blood:

Variant related genes	Relation type
UCP2	TF binding region
ENSG00000181924	Chromatin interaction
ENSG00000256723	Chromatin interaction
ENSG00000187726	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000175564	Chromatin interaction
ENSG00000168014	Chromatin interaction
ENSG00000214517	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11549045	0.95[EUR][1000 genomes]
rs12419308	1.00[GIH][hapmap]
rs2632725	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2735572	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45467092	0.98[EUR][1000 genomes]
rs45523540	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs45529235	0.91[EUR][1000 genomes]
rs45566236	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs45595943	0.95[EUR][1000 genomes]
rs760206	0.95[EUR][1000 genomes]
rs760207	0.95[EUR][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	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	esv1827060	chr11:73670645-73694754	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv520299	chr11:73684294-73694754	Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73672800-73693200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:73675400-73692600	Weak transcription	Psoas Muscle	Psoas
3	chr11:73676400-73693200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:73684800-73692600	Weak transcription	Right Atrium	heart
5	chr11:73685000-73693000	Weak transcription	NHDF-Ad	bronchial
6	chr11:73685200-73692200	Weak transcription	Small Intestine	intestine
7	chr11:73685600-73693000	Weak transcription	NHLF	lung
8	chr11:73686000-73692400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:73686600-73693000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:73687000-73693000	Weak transcription	NH-A	brain
11	chr11:73687200-73693000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:73687600-73691800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
13	chr11:73688000-73693400	Weak transcription	Brain Angular Gyrus	brain
14	chr11:73688000-73693800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
15	chr11:73688400-73694400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
16	chr11:73688600-73691800	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:73688600-73692200	Genic enhancers	Spleen	Spleen
18	chr11:73689000-73692800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
19	chr11:73689200-73692600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
20	chr11:73689200-73692600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
21	chr11:73689200-73692600	Weak transcription	Liver	Liver
22	chr11:73689200-73692800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:73689400-73693200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:73689600-73692600	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
25	chr11:73689600-73693000	Weak transcription	Right Ventricle	heart
26	chr11:73689800-73692400	Weak transcription	Brain Substantia Nigra	brain
27	chr11:73689800-73692800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:73689800-73692800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
29	chr11:73690000-73691800	Enhancers	Stomach Mucosa	stomach
30	chr11:73690000-73693000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
31	chr11:73690200-73692000	Weak transcription	Brain Anterior Caudate	brain
32	chr11:73690200-73692200	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:73690200-73692600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:73690200-73693400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:73690400-73691800	Genic enhancers	Fetal Intestine Small	intestine
36	chr11:73690600-73692800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:73690800-73691800	Active TSS	Rectal Smooth Muscle	rectum
38	chr11:73690800-73691800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr11:73690800-73691800	Flanking Active TSS	GM12878-XiMat	blood
40	chr11:73690800-73692200	Genic enhancers	A549	lung
41	chr11:73690800-73692400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr11:73690800-73692400	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
43	chr11:73690800-73692600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:73690800-73692600	Enhancers	Pancreas	Pancrea
45	chr11:73690800-73692800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
46	chr11:73690800-73692800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
47	chr11:73690800-73692800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:73690800-73692800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:73690800-73692800	Transcr. at gene 5' and 3'	K562	blood
50	chr11:73690800-73693200	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood

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