Variant report

Variant	rs3750914
Chromosome Location	chr11:71639041-71639042
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	MAX	chr11:71638887-71640493	K562	blood:	n/a	chr11:71640003-71640013
2	USF2	chr11:71638952-71640025	Hela-S3	cervix:	n/a	n/a
3	MYC	chr11:71638925-71640133	H1-hESC	embryonic stem cell:	n/a	chr11:71640003-71640013
4	MAZ	chr11:71638813-71640635	IMR90	lung:	n/a	chr11:71640003-71640013
5	POLR2A	chr11:71638936-71640413	HL-60	blood:	n/a	n/a
6	MYC	chr11:71638980-71640672	K562	blood:	n/a	chr11:71640003-71640013
7	GTF2F1	chr11:71638866-71640158	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr11:71638872-71639613	K562	blood:	n/a	n/a
9	YY1	chr11:71638945-71640393	K562	blood:	n/a	chr11:71639593-71639612 chr11:71640097-71640117 chr11:71639599-71639607 chr11:71640002-71640011
10	SIN3AK20	chr11:71638791-71640608	MCF-7	breast:	n/a	n/a
11	TAF1	chr11:71638903-71640617	A549	lung:	n/a	n/a
12	POLR2A	chr11:71638652-71640326	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr11:71638887-71639759	GM12891	blood:	n/a	n/a
14	MYC	chr11:71638855-71640687	K562	blood:	n/a	chr11:71640003-71640013
15	POLR2A	chr11:71638832-71639698	K562	blood:	n/a	n/a
16	MAX	chr11:71638863-71640544	A549	lung:	n/a	chr11:71640003-71640013
17	WRNIP1	chr11:71638968-71641049	GM12878	blood:	n/a	n/a
18	MAX	chr11:71638993-71640453	GM12878	blood:	n/a	chr11:71640003-71640013
19	MAX	chr11:71638973-71640325	H1-hESC	embryonic stem cell:	n/a	chr11:71640003-71640013
20	POLR2A	chr11:71638909-71640330	GM15510	blood:	n/a	n/a
21	MAX	chr11:71638948-71640343	Hela-S3	cervix:	n/a	chr11:71640003-71640013
22	HEY1	chr11:71638903-71639725	HepG2	liver:	n/a	n/a
23	KAP1	chr11:71639029-71639802	K562	blood:	n/a	n/a
24	RAD21	chr11:71639026-71639226	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:71638906-71639641	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:71638917-71639753	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:71638873-71640387	PANC-1	pancreas:	n/a	n/a
28	BCL3	chr11:71638892-71640413	A549	lung:	n/a	n/a
29	EBF1	chr11:71638999-71639454	GM12878	blood:	n/a	n/a
30	ZNF384	chr11:71638988-71639110	GM12878	blood:	n/a	n/a
31	SMARCC2	chr11:71638943-71639929	Hela-S3	cervix:	n/a	chr11:71639663-71639672
32	POLR2A	chr11:71638905-71639645	GM12878	blood:	n/a	n/a
33	EP300	chr11:71639031-71640564	K562	blood:	n/a	chr11:71639697-71639704
34	SIX5	chr11:71638537-71640497	A549	lung:	n/a	chr11:71639723-71639737 chr11:71639663-71639672 chr11:71639724-71639733
35	SIN3A	chr11:71638831-71640541	H1-hESC	embryonic stem cell:	n/a	chr11:71639606-71639615
36	NR2F2	chr11:71638918-71640395	K562	blood:	n/a	n/a
37	POLR2A	chr11:71638918-71639663	H1-hESC	embryonic stem cell:	n/a	n/a
38	PML	chr11:71638821-71640745	GM12878	blood:	n/a	n/a
39	TEAD4	chr11:71638982-71639699	H1-hESC	embryonic stem cell:	n/a	n/a
40	BHLHE40	chr11:71638957-71640482	GM12878	blood:	n/a	n/a
41	REST	chr11:71638826-71640699	H1-neurons	neurons:	n/a	chr11:71640280-71640288 chr11:71640300-71640313 chr11:71640001-71640019
42	RCOR1	chr11:71639008-71640194	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr11:71638887-71640880	GM18505	blood:	n/a	n/a
44	POLR2A	chr11:71638822-71640511	SK-N-MC	brain:	n/a	n/a
45	TCF12	chr11:71639037-71640393	ECC-1	luminal epithelium:	n/a	chr11:71640063-71640070
46	POLR2A	chr11:71639006-71640344	K562	blood:	n/a	n/a
47	POLR2A	chr11:71638923-71640355	GM18526	blood:	n/a	n/a
48	ZMIZ1	chr11:71638956-71640359	K562	blood:	n/a	n/a
49	MTA3	chr11:71638857-71640272	GM12878	blood:	n/a	n/a
50	STAT1	chr11:71638943-71640343	Hela-S3	cervix:	n/a	chr11:71639881-71639892 chr11:71640216-71640228 chr11:71639146-71639158 chr11:71639617-71639625 chr11:71639373-71639385

No.	Distal block	Cell Line	Cell type
1	chr11:71638248..71640782-chr11:71791184..71792782,2	K562	blood:
2	chr11:71638377..71641678-chr11:71642670..71653439,17	MCF-7	breast:
3	chr11:71628907..71631334-chr11:71636538..71639509,2	K562	blood:
4	chr11:71638806..71639785-chr19:18391994..18392775,2	HCT-116	colon:
5	chr11:71638884..71640864-chr11:71694581..71697460,2	K562	blood:
6	chr11:71627755..71629662-chr11:71636576..71639154,2	MCF-7	breast:
7	chr11:71637612..71641494-chr11:71650147..71652866,4	K562	blood:
8	chr11:71638287..71640361-chr11:71821333..71824174,2	MCF-7	breast:
9	chr11:71637727..71640735-chr11:71691994..71694781,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUMA1-2	chr11:71638624-71639081	NONHSAT022730

Variant related genes	Relation type
RNF121	TF binding region
ENSG00000130522	Chromatin interaction
ENSG00000255296	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000254469	Chromatin interaction
ENSG00000137522	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17161701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161942	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs2276383	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2276385	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34075366	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35501875	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35844388	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3750913	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3763797	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55743841	1.00[EUR][1000 genomes]
rs55815017	1.00[EUR][1000 genomes]
rs55938043	0.96[EUR][1000 genomes]
rs55992367	0.87[EUR][1000 genomes]
rs57119231	0.80[EUR][1000 genomes]
rs57162500	1.00[EUR][1000 genomes]
rs5743658	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5743661	0.82[ASN][1000 genomes]
rs5743676	1.00[YRI][hapmap]
rs57637306	1.00[EUR][1000 genomes]
rs60057760	1.00[EUR][1000 genomes]
rs60165720	1.00[EUR][1000 genomes]
rs60857568	0.87[EUR][1000 genomes]
rs61745941	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7109653	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs7111712	0.96[EUR][1000 genomes]
rs7113974	1.00[EUR][1000 genomes]
rs72477716	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73527732	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73544108	1.00[EUR][1000 genomes]
rs9667883	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	esv2758276	chr11:71363639-71657576	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv2759836	chr11:71363639-71657576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking 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	55 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	chr11:71638200-71639200	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr11:71638200-71639200	Flanking Active TSS	Hela-S3	cervix
3	chr11:71638200-71639400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr11:71638200-71639400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:71638200-71640800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:71638400-71639200	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr11:71638400-71639400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr11:71638400-71639400	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr11:71638400-71639600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:71638400-71640800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:71638400-71640800	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr11:71638400-71641000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr11:71638600-71639200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:71638600-71639200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:71638600-71639200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:71638600-71639200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr11:71638600-71639200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr11:71638600-71639200	Flanking Active TSS	Fetal Thymus	thymus
19	chr11:71638600-71639200	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr11:71638600-71639200	Active TSS	HepG2	liver
21	chr11:71638600-71639200	Flanking Active TSS	HUVEC	blood vessel
22	chr11:71638600-71639200	Flanking Active TSS	NH-A	brain
23	chr11:71638600-71639400	Flanking Active TSS	Fetal Brain Male	brain
24	chr11:71638600-71640600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:71638600-71640600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:71638600-71640800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr11:71638600-71640800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:71638600-71640800	Active TSS	Fetal Intestine Large	intestine
29	chr11:71638600-71640800	Active TSS	HMEC	breast
30	chr11:71638600-71640800	Active TSS	K562	blood
31	chr11:71638600-71640800	Active TSS	NHDF-Ad	bronchial
32	chr11:71638600-71641000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr11:71638600-71641000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:71638600-71641200	Active TSS	Fetal Kidney	kidney
35	chr11:71638600-71641200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr11:71638600-71641200	Active TSS	NHLF	lung
37	chr11:71638600-71641400	Active TSS	Fetal Intestine Small	intestine
38	chr11:71638600-71641600	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr11:71638600-71641600	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr11:71638800-71639200	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr11:71638800-71639200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr11:71638800-71639200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:71638800-71639200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:71638800-71639200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr11:71638800-71639200	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr11:71638800-71639200	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr11:71638800-71639200	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr11:71638800-71639200	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr11:71638800-71639200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr11:71638800-71639200	Flanking Active TSS	Colon Smooth Muscle	Colon

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