Variant report

Variant	rs7928739
Chromosome Location	chr11:67833543-67833544
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	POLR2A	chr11:67833264-67833712	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67832726..67834316-chr11:67980375..67982072,2	MCF-7	breast:

Variant related genes	Relation type
CHKA	TF binding region
ENSG00000110066	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10791956	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10791957	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.85[MEX][hapmap];0.90[MKK][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896293	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10896295	0.91[CEU][hapmap]
rs11228129	0.94[ASN][1000 genomes]
rs11228131	0.95[CHB][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[ASN][1000 genomes]
rs11228133	0.89[ASN][1000 genomes]
rs11228137	0.83[ASN][1000 genomes]
rs11228139	0.96[CEU][hapmap]
rs11228142	0.96[CEU][hapmap]
rs11228144	0.88[JPT][hapmap]
rs11228145	0.88[CEU][hapmap];0.89[JPT][hapmap]
rs11535788	0.96[CEU][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11824199	0.89[ASN][1000 genomes]
rs12270493	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2457179	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2457180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2511437	0.95[CHB][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs2511467	0.89[JPT][hapmap]
rs2511469	0.88[CEU][hapmap];0.89[JPT][hapmap]
rs2511470	0.80[GIH][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap]
rs2511472	0.88[CEU][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap]
rs2511475	0.83[GIH][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap]
rs2511479	0.89[JPT][hapmap]
rs2512608	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2512611	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2512612	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2512623	0.88[CEU][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.84[LWK][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap]
rs3133327	0.82[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[ASN][1000 genomes]
rs3819255	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3935460	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4073551	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4147780	0.81[ASW][hapmap];0.87[GIH][hapmap];0.90[YRI][hapmap]
rs4930227	0.94[ASN][1000 genomes]
rs4930557	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61890478	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6591331	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7104982	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7123183	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7123668	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71480230	0.82[ASN][1000 genomes]
rs7925022	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7925423	0.80[ASN][1000 genomes]
rs7940217	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7940501	0.96[CEU][hapmap];0.87[CHB][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap]
rs7944372	0.96[CEU][hapmap];0.87[CHB][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap]
rs884826	0.95[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	esv2757450	chr11:67472905-67891289	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
3	esv2759835	chr11:67472905-67891289	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
4	esv2758275	chr11:67524937-67859490	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
5	nsv469856	chr11:67639037-67859490	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
6	nsv482760	chr11:67639037-67859490	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
7	nsv897838	chr11:67757350-67833543	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
9	nsv897843	chr11:67765056-67833543	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
10	nsv897852	chr11:67795066-67833543	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
11	nsv897855	chr11:67805563-67842369	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS 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 miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67808400-67841000	Weak transcription	HMEC	breast
2	chr11:67808800-67842600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:67809400-67834800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:67811200-67841600	Strong transcription	Fetal Intestine Small	intestine
5	chr11:67812200-67875400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:67815000-67851400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:67817600-67837600	Weak transcription	NH-A	brain
8	chr11:67818800-67837200	Weak transcription	NHEK	skin
9	chr11:67819000-67834200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:67819400-67842200	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:67819600-67835400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:67819600-67846200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:67819800-67850600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:67820000-67850800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:67820200-67841000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:67820600-67836200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:67820600-67836600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:67820800-67837800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr11:67821200-67845400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:67822000-67851600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:67823600-67841800	Strong transcription	Fetal Intestine Large	intestine
22	chr11:67823600-67849400	Strong transcription	Hela-S3	cervix
23	chr11:67823600-67850600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr11:67823800-67839000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:67823800-67842200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:67824000-67833800	Strong transcription	HSMM	muscle
27	chr11:67824000-67843200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:67824000-67844000	Strong transcription	HepG2	liver
29	chr11:67824200-67842800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:67824400-67842200	Strong transcription	Liver	Liver
31	chr11:67824400-67842800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr11:67824400-67846000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:67824600-67843600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:67824600-67846000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:67825000-67844200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:67825200-67838600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:67825200-67843000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:67825200-67849600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:67825400-67842200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:67825400-67843000	Strong transcription	Fetal Muscle Leg	muscle
41	chr11:67825400-67845800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:67825400-67846400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:67825600-67834000	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr11:67825600-67843000	Strong transcription	Dnd41	blood
45	chr11:67825800-67834000	Strong transcription	Brain Angular Gyrus	brain
46	chr11:67826600-67849400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:67827200-67839600	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr11:67827200-67840000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr11:67827200-67842400	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:67827800-67842400	Strong transcription	Fetal Stomach	stomach

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