Variant report

Variant	rs9267502
Chromosome Location	chr6:31553194-31553195
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	CTCF	chr6:31553130-31553738	A549	lung:	n/a	chr6:31553477-31553495
2	CTCF	chr6:31553134-31553777	SK-N-SH	brain:	n/a	chr6:31553477-31553495
3	POLR2A	chr6:31553164-31555365	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:31519280..31519781-chr6:31553143..31553855,2	MCF-7	breast:
2	chr6:31552844..31558545-chr6:31585940..31590373,6	MCF-7	breast:
3	chr6:31511781..31517209-chr6:31545410..31553496,14	K562	blood:
4	chr6:31552082..31553721-chr6:31719786..31722237,2	MCF-7	breast:
5	chr6:31553044..31555571-chr6:31558809..31560803,3	K562	blood:
6	chr6:31513639..31517977-chr6:31550404..31553496,5	K562	blood:

Variant related genes	Relation type
LST1	TF binding region
LTB	TF binding region
ENSG00000213760	Chromatin interaction
ENSG00000204498	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000204475	Chromatin interaction
ENSG00000254870	Chromatin interaction
ENSG00000204410	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2734576	0.81[ASN][1000 genomes]
rs3093553	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3093661	0.88[ASN][1000 genomes]
rs3093662	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3093664	0.88[ASN][1000 genomes]
rs3093668	1.00[ASN][1000 genomes]
rs361525	0.88[ASN][1000 genomes]
rs41293899	0.81[ASN][1000 genomes]
rs41293907	0.81[ASN][1000 genomes]
rs4947326	0.81[ASN][1000 genomes]
rs4947327	0.81[ASN][1000 genomes]
rs4959078	0.81[ASN][1000 genomes]
rs4959079	0.81[ASN][1000 genomes]
rs9267454	0.81[ASN][1000 genomes]
rs9267456	0.81[ASN][1000 genomes]
rs9267462	0.81[ASN][1000 genomes]
rs9267463	0.81[ASN][1000 genomes]
rs9267464	0.81[ASN][1000 genomes]
rs9267465	0.81[ASN][1000 genomes]
rs9267466	0.81[ASN][1000 genomes]
rs9267487	0.81[ASN][1000 genomes]
rs9267492	0.81[ASN][1000 genomes]
rs9267497	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
2	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
3	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
4	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
5	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
6	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
7	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking 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 miRNA target site	378 gene(s)	inside rSNPs	diseases
8	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
9	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
10	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
11	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
12	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
13	nsv830627	chr6:31496214-31659950	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
14	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
15	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31549400-31555600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:31549400-31556200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr6:31550000-31553400	Weak transcription	K562	blood
4	chr6:31550000-31553600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:31550000-31553600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:31550000-31553600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:31550000-31554000	Weak transcription	Esophagus	oesophagus
8	chr6:31550000-31555000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:31550000-31556200	Weak transcription	Gastric	stomach
10	chr6:31550000-31583200	Weak transcription	Right Atrium	heart
11	chr6:31550200-31553200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:31550200-31555200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:31550200-31556800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:31550400-31553200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:31550400-31554600	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:31550600-31553400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:31550600-31553400	Weak transcription	HUVEC	blood vessel
18	chr6:31550800-31553200	Weak transcription	Adipose Nuclei	Adipose
19	chr6:31550800-31553200	Weak transcription	Liver	Liver
20	chr6:31550800-31553200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:31550800-31553400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr6:31550800-31553400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:31550800-31553400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:31550800-31553400	Weak transcription	Spleen	Spleen
25	chr6:31550800-31553600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:31550800-31553600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:31550800-31560400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:31551000-31553200	Enhancers	Primary B cells from peripheral blood	blood
29	chr6:31551000-31553200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:31551000-31553400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr6:31551000-31553400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:31551000-31553600	Enhancers	Thymus	Thymus
33	chr6:31551000-31554200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:31551000-31554200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr6:31551000-31554200	Weak transcription	Colonic Mucosa	Colon
36	chr6:31551200-31553200	Enhancers	Primary T cells fromperipheralblood	blood
37	chr6:31551200-31553200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr6:31551200-31553600	Enhancers	Fetal Thymus	thymus
39	chr6:31551600-31553400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr6:31551600-31553600	Enhancers	Primary hematopoietic stem cells	blood
41	chr6:31551800-31553200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr6:31551800-31553800	Weak transcription	Lung	lung
43	chr6:31552000-31553200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:31552000-31554000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr6:31552400-31554000	Enhancers	GM12878-XiMat	blood
46	chr6:31552400-31555400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr6:31552600-31555200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr6:31552600-31557200	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr6:31552800-31553600	Enhancers	Duodenum Mucosa	Duodenum
50	chr6:31552800-31555200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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