Variant report

Variant	rs6976887
Chromosome Location	chr7:127460594-127460595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127444898..127447731-chr7:127459720..127461359,2	K562	blood:
2	chr7:127457487..127459483-chr7:127460285..127462225,2	MCF-7	breast:
3	chr7:127452756..127454850-chr7:127458965..127460612,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10226394	0.94[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10239440	0.87[AMR][1000 genomes]
rs10246505	0.83[EUR][1000 genomes]
rs10249616	0.87[AMR][1000 genomes]
rs10265516	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10270127	0.81[CHB][hapmap]
rs10274574	0.88[AFR][1000 genomes]
rs10280863	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1035295	0.80[EUR][1000 genomes]
rs11765620	0.91[ASN][1000 genomes]
rs11767317	0.88[ASN][1000 genomes]
rs11773160	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1419968	0.80[YRI][hapmap];0.80[AFR][1000 genomes]
rs1440972	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1978495	0.86[AFR][1000 genomes]
rs2043981	0.85[AFR][1000 genomes]
rs2896395	0.87[AFR][1000 genomes]
rs3757764	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs3757768	0.83[EUR][1000 genomes]
rs3808080	0.82[EUR][1000 genomes]
rs3808081	0.80[EUR][1000 genomes]
rs3808083	0.83[EUR][1000 genomes]
rs3808089	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3824001	0.90[AFR][1000 genomes]
rs4473953	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57103099	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6467148	0.86[AFR][1000 genomes]
rs6467152	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6467153	0.90[AFR][1000 genomes]
rs6943219	0.88[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[LWK][hapmap];0.86[YRI][hapmap]
rs6943385	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap]
rs6947779	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6953134	0.88[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[LWK][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6965698	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6968751	0.94[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs6969353	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6970024	0.90[AFR][1000 genomes]
rs6978335	0.85[AFR][1000 genomes]
rs6979634	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap]
rs7778413	0.88[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[LWK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7781189	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs7783102	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7784200	0.88[ASW][hapmap];0.88[CHB][hapmap];0.83[YRI][hapmap]
rs7786786	0.88[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs806176	0.83[CHB][hapmap]
rs806178	0.83[CHB][hapmap]
rs806179	0.89[CEU][hapmap];0.94[CHB][hapmap];0.81[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
2	chr7:127440200-127460800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:127448400-127484800	Weak transcription	Aorta	Aorta
4	chr7:127449000-127484200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:127449600-127460800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:127449600-127461200	Weak transcription	Right Atrium	heart
7	chr7:127449600-127472600	Weak transcription	Lung	lung
8	chr7:127449800-127460800	Weak transcription	Brain Substantia Nigra	brain
9	chr7:127449800-127460800	Weak transcription	Fetal Thymus	thymus
10	chr7:127449800-127469200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:127450000-127460800	Weak transcription	Liver	Liver
12	chr7:127450800-127471200	Weak transcription	Dnd41	blood
13	chr7:127452800-127462600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:127453400-127460600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:127453800-127463000	Weak transcription	Spleen	Spleen
16	chr7:127454600-127463000	Weak transcription	Ovary	ovary
17	chr7:127455000-127460800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:127456200-127460800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:127456200-127461000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:127456400-127469000	Weak transcription	Left Ventricle	heart
21	chr7:127456400-127476800	Weak transcription	Esophagus	oesophagus
22	chr7:127456600-127469000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:127457000-127463000	Weak transcription	Pancreas	Pancrea
24	chr7:127457000-127477600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:127457000-127497800	Weak transcription	Gastric	stomach
26	chr7:127458400-127461600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:127458600-127460800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr7:127458600-127461400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr7:127458600-127461800	Enhancers	HepG2	liver
30	chr7:127458800-127460600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:127459000-127461400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:127459200-127461600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:127459400-127461200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr7:127459400-127461400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr7:127459600-127460800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:127459600-127461000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:127459600-127461000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:127459600-127461000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr7:127459600-127461000	Enhancers	Fetal Kidney	kidney
40	chr7:127459600-127461200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:127459600-127461200	Enhancers	Primary hematopoietic stem cells	blood
42	chr7:127459600-127461200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:127459600-127461200	Enhancers	Fetal Intestine Small	intestine
44	chr7:127459600-127461200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr7:127459600-127461200	Enhancers	NHLF	lung
46	chr7:127459600-127461400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:127459600-127461600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr7:127459600-127463400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:127459600-127463400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr7:127459800-127460600	Enhancers	A549	lung

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