Variant report

Variant	rs1790738
Chromosome Location	chr11:67135661-67135662
allele	A/G
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	POLR2A	chr11:67135378-67135690	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:67134663-67135843	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:67134317-67140357	U87	brain:	n/a	n/a
4	POLR2A	chr11:67131258-67139775	A549	lung:	n/a	n/a
5	POLR2A	chr11:67135344-67136018	K562	blood:	n/a	n/a
6	MAX	chr11:67134393-67135778	A549	lung:	n/a	chr11:67134409-67134419 chr11:67135539-67135550
7	POLR2A	chr11:67135652-67140351	U87	brain:	n/a	n/a
8	POLR2A	chr11:67135270-67135672	HCT-116	colon:	n/a	n/a
9	POLR2A	chr11:67135401-67139412	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67133399..67135942-chr11:67204970..67207093,2	K562	blood:
2	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:

Variant related genes	Relation type
CLCF1	TF binding region
ENSG00000175482	Chromatin interaction
ENSG00000213402	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10736657	0.82[ASN][1000 genomes]
rs10896166	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896172	1.00[GIH][hapmap];0.86[MEX][hapmap]
rs11819783	0.82[EUR][1000 genomes]
rs12288048	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs12788405	1.00[EUR][1000 genomes]
rs12790040	0.81[ASN][1000 genomes]
rs12791853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12805811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1419861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1558257	1.00[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap]
rs1638569	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17878756	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17883741	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790737	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[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790762	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1894112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1944096	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[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2286619	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298815	0.88[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2429459	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2429463	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511057	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2514257	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2532605	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2852875	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2852877	0.88[YRI][hapmap]
rs34000912	0.98[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs34087937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35176549	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35247976	0.82[EUR][1000 genomes]
rs35821109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35876769	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35992831	0.86[EUR][1000 genomes]
rs36085596	0.80[EUR][1000 genomes]
rs3737460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4244822	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930192	0.88[MEX][hapmap]
rs4930197	1.00[GIH][hapmap]
rs4930418	0.88[MEX][hapmap]
rs61734600	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591241	0.85[ASN][1000 genomes]
rs66466718	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71457775	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7394531	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7934433	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs867193	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326373	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9734588	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers 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 miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
12	esv3361899	chr11:67133576-67138574	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
13	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67125000-67137600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:67125200-67138200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:67125200-67139200	Weak transcription	Small Intestine	intestine
4	chr11:67125600-67136600	Weak transcription	HUVEC	blood vessel
5	chr11:67131200-67137400	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr11:67131200-67139400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:67131400-67138800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:67131400-67138800	Enhancers	Primary B cells from cord blood	blood
9	chr11:67132400-67137800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:67132400-67139200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:67132600-67136000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr11:67132600-67136000	Enhancers	Ovary	ovary
13	chr11:67132600-67136000	Enhancers	Right Atrium	heart
14	chr11:67132800-67138000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:67132800-67139600	Weak transcription	Aorta	Aorta
16	chr11:67133000-67136000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:67133000-67136000	Enhancers	Fetal Muscle Trunk	muscle
18	chr11:67133000-67136200	Enhancers	Fetal Heart	heart
19	chr11:67133000-67137600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr11:67133200-67136200	Enhancers	Fetal Muscle Leg	muscle
21	chr11:67133200-67137000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:67133200-67139200	Enhancers	Lung	lung
23	chr11:67133400-67136000	Enhancers	Right Ventricle	heart
24	chr11:67133400-67136200	Enhancers	Left Ventricle	heart
25	chr11:67133400-67138800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:67133600-67136200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr11:67133600-67136600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:67133600-67137400	Genic enhancers	Muscle Satellite Cultured Cells	--
29	chr11:67133600-67137600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:67133600-67137600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:67133600-67138200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:67133600-67138200	Enhancers	NHDF-Ad	bronchial
33	chr11:67133800-67136400	Enhancers	Hela-S3	cervix
34	chr11:67133800-67137000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:67134000-67136200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:67134000-67136200	Enhancers	NHEK	skin
37	chr11:67134000-67136800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:67134000-67137000	Enhancers	Placenta	Placenta
39	chr11:67134000-67137000	Enhancers	NH-A	brain
40	chr11:67134000-67137200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:67134000-67137200	Enhancers	Esophagus	oesophagus
42	chr11:67134000-67139200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:67134200-67136800	Enhancers	HMEC	breast
44	chr11:67134200-67137600	Weak transcription	Fetal Kidney	kidney
45	chr11:67134200-67138000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr11:67134200-67138000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:67134200-67138000	Enhancers	NHLF	lung
48	chr11:67134400-67135800	Transcr. at gene 5' and 3'	A549	lung
49	chr11:67134400-67136200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr11:67134400-67138000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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