Variant report

Variant	rs35590263
Chromosome Location	chr11:67039030-67039031
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	RUNX3	chr11:67038738-67039724	GM12878	blood:	n/a	n/a
2	MTA3	chr11:67038960-67040372	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:67033773-67040167	NB4	blood:	n/a	n/a
4	POLR2A	chr11:67038826-67039124	K562	blood:	n/a	n/a
5	CEBPB	chr11:67038833-67039566	GM12878	blood:	n/a	n/a
6	WRNIP1	chr11:67036895-67039166	GM12878	blood:	n/a	n/a
7	IKZF1	chr11:67037678-67039502	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:67038843-67039266	H1-neurons	neurons:	n/a	n/a
9	STAT5A	chr11:67039004-67039908	GM12878	blood:	n/a	chr11:67039366-67039375 chr11:67039361-67039381 chr11:67039209-67039221 chr11:67039332-67039339 chr11:67039364-67039378 chr11:67039367-67039376
10	EBF1	chr11:67038316-67040153	GM12878	blood:	n/a	chr11:67039324-67039334 chr11:67039444-67039454 chr11:67039444-67039453 chr11:67039443-67039454 chr11:67039322-67039335 chr11:67039324-67039333
11	POLR2A	chr11:67034324-67041514	HL-60	blood:	n/a	n/a
12	POLR2A	chr11:67033578-67041547	HL-60	blood:	n/a	n/a
13	ELF1	chr11:67039018-67040548	GM12878	blood:	n/a	n/a
14	STAT1	chr11:67038675-67039098	GM12878	blood:	n/a	n/a
15	RELA	chr11:67038965-67039543	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:67033515-67041155	GM12892	blood:	n/a	n/a
17	POLR2A	chr11:67038902-67040376	GM12878	blood:	n/a	n/a
18	NR2F2	chr11:67038964-67039659	MCF-7	breast:	n/a	n/a
19	MAX	chr11:67038955-67040137	NB4	blood:	n/a	chr11:67039826-67039836 chr11:67039827-67039838 chr11:67039828-67039837 chr11:67039826-67039839 chr11:67039828-67039837 chr11:67039824-67039839 chr11:67039828-67039838 chr11:67039826-67039841 chr11:67039827-67039838 chr11:67039827-67039837 chr11:67039545-67039554 chr11:67039829-67039836 chr11:67039826-67039839 chr11:67039826-67039839
20	EBF1	chr11:67038933-67039751	GM12878	blood:	n/a	chr11:67039324-67039334 chr11:67039444-67039454 chr11:67039444-67039453 chr11:67039443-67039454 chr11:67039322-67039335 chr11:67039324-67039333
21	SPI1	chr11:67038998-67039621	HL-60	blood:	n/a	chr11:67039096-67039109
22	POLR2A	chr11:67038984-67039290	K562	blood:	n/a	n/a
23	MTA3	chr11:67038917-67039628	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:67038806-67039187	H1-neurons	neurons:	n/a	n/a
25	MYC	chr11:67038999-67040066	NB4	blood:	n/a	chr11:67039826-67039836 chr11:67039827-67039838 chr11:67039828-67039837 chr11:67039826-67039839 chr11:67039828-67039837 chr11:67039824-67039839 chr11:67039828-67039838 chr11:67039826-67039841 chr11:67039827-67039838 chr11:67039827-67039837 chr11:67039545-67039554 chr11:67039829-67039836 chr11:67039826-67039839 chr11:67039826-67039839
26	RUNX3	chr11:67038712-67040204	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67038891..67042263-chr11:67140367..67142559,4	MCF-7	breast:

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12791976	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12803635	1.00[AFR][1000 genomes]
rs12803820	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2286621	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34281447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34614891	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35247643	1.00[AFR][1000 genomes]
rs35995489	0.83[ASN][1000 genomes]
rs36019351	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3741180	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs55987642	1.00[AFR][1000 genomes]
rs61412808	0.83[ASN][1000 genomes]
rs71457758	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs71457767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71457768	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs73503907	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	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	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67034400-67039200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr11:67034400-67041400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr11:67034600-67039400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr11:67034600-67040800	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr11:67034600-67041400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
6	chr11:67034800-67039800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
7	chr11:67034800-67041000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:67035000-67040400	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
9	chr11:67035000-67040400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:67035000-67040400	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:67035000-67040400	Transcr. at gene 5' and 3'	Thymus	Thymus
12	chr11:67035000-67040800	Weak transcription	Ovary	ovary
13	chr11:67035200-67039400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:67035200-67039600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr11:67035200-67039600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:67035200-67039800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
17	chr11:67035200-67040400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
18	chr11:67035400-67040800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:67035400-67044400	Weak transcription	A549	lung
20	chr11:67035600-67040000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr11:67035600-67041200	Genic enhancers	Gastric	stomach
22	chr11:67035600-67041400	Enhancers	Fetal Heart	heart
23	chr11:67035600-67041600	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr11:67035600-67046400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr11:67035800-67044600	Enhancers	Left Ventricle	heart
26	chr11:67036000-67040400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:67036000-67041000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:67036200-67040600	Weak transcription	HMEC	breast
29	chr11:67036800-67039600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:67036800-67041000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr11:67037000-67039800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr11:67037000-67039800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr11:67037000-67041400	Enhancers	Osteobl	bone
34	chr11:67037200-67039800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr11:67037200-67040600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr11:67037200-67041800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:67037200-67055800	Genic enhancers	Spleen	Spleen
38	chr11:67037400-67039600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr11:67037400-67040400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:67037400-67040600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:67037600-67039400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr11:67037600-67039800	Weak transcription	HSMMtube	muscle
43	chr11:67037600-67040000	Weak transcription	Hela-S3	cervix
44	chr11:67037600-67040800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:67037600-67042600	Enhancers	NHDF-Ad	bronchial
46	chr11:67037800-67039200	Enhancers	Placenta	Placenta
47	chr11:67037800-67039400	Weak transcription	HSMM	muscle
48	chr11:67037800-67041000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr11:67037800-67044600	Enhancers	Liver	Liver
50	chr11:67037800-67046200	Enhancers	Stomach Mucosa	stomach

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