Variant report

Variant	rs6995096
Chromosome Location	chr8:126108385-126108386
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	chr8:126108356-126108486	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:126004345..126006985-chr8:126108210..126109732,2	MCF-7	breast:
2	chr8:126107482..126112486-chr8:126114879..126119066,5	MCF-7	breast:
3	chr8:126102962..126105480-chr8:126105597..126108613,3	MCF-7	breast:

Variant related genes	Relation type
KIAA0196	TF binding region
ENSG00000164961	Chromatin interaction
ENSG00000156831	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10094316	1.00[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];0.85[MKK][hapmap];0.80[TSI][hapmap];0.92[ASN][1000 genomes]
rs10100556	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs10106942	0.80[CHB][hapmap]
rs10112218	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs11986135	0.89[ASN][1000 genomes]
rs11995484	0.80[CHB][hapmap]
rs12542820	0.81[CHB][hapmap]
rs13249982	0.83[CHB][hapmap]
rs2384859	0.92[ASN][1000 genomes]
rs2891630	0.94[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs4300023	0.80[CHB][hapmap]
rs4330708	0.80[CHB][hapmap]
rs4870935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871574	0.80[CHB][hapmap]
rs5007394	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs6470338	1.00[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];0.94[ASN][1000 genomes]
rs6470339	1.00[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.86[MKK][hapmap];0.81[TSI][hapmap];0.92[ASN][1000 genomes]
rs6470342	0.91[ASN][1000 genomes]
rs6470344	0.92[ASN][1000 genomes]
rs7000553	0.91[ASN][1000 genomes]
rs7461756	0.83[CHB][hapmap]
rs7813225	1.00[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.86[MKK][hapmap];0.92[ASN][1000 genomes]
rs7816430	0.92[ASN][1000 genomes]
rs7831515	0.80[CHB][hapmap]
rs7836427	0.94[ASN][1000 genomes]
rs9297712	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv465803	chr8:126068197-126132816	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	nsv612148	chr8:126068197-126132816	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126104600-126116200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:126104600-126116600	Weak transcription	Esophagus	oesophagus
3	chr8:126104600-126116600	Weak transcription	Gastric	stomach
4	chr8:126104600-126120200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:126104800-126116400	Weak transcription	Aorta	Aorta
6	chr8:126105000-126114200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:126105000-126114400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:126105000-126114600	Weak transcription	Lung	lung
9	chr8:126105000-126114800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:126105000-126116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:126105000-126116800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:126105000-126123200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:126105000-126123200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:126105000-126131400	Weak transcription	Fetal Kidney	kidney
15	chr8:126105200-126109600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:126105200-126114400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr8:126105200-126114600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:126105200-126114600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:126105200-126114600	Weak transcription	Thymus	Thymus
20	chr8:126105200-126156400	Weak transcription	Fetal Brain Male	brain
21	chr8:126105400-126108400	Weak transcription	HSMM	muscle
22	chr8:126105400-126109200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr8:126105400-126109400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:126105400-126109400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:126105400-126109600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:126105400-126110200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:126105400-126110200	Weak transcription	K562	blood
28	chr8:126105400-126110800	Weak transcription	Psoas Muscle	Psoas
29	chr8:126105400-126111400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:126105400-126113400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:126105400-126114200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:126105400-126114200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:126105400-126114400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:126105400-126114400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:126105400-126114400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:126105400-126114600	Weak transcription	GM12878-XiMat	blood
37	chr8:126105400-126114800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:126105400-126114800	Weak transcription	Fetal Brain Female	brain
39	chr8:126105400-126114800	Weak transcription	NH-A	brain
40	chr8:126105400-126115800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr8:126105400-126115800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:126105400-126116400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:126105400-126116400	Weak transcription	Colonic Mucosa	Colon
44	chr8:126105400-126116400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr8:126105400-126116600	Weak transcription	Brain Germinal Matrix	brain
46	chr8:126105400-126116600	Weak transcription	Osteobl	bone
47	chr8:126105400-126116800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr8:126105400-126122200	Weak transcription	NHDF-Ad	bronchial
49	chr8:126105400-126123200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:126105400-126131200	Weak transcription	Fetal Heart	heart

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