Variant report

Variant	rs6998420
Chromosome Location	chr8:125908260-125908261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125900299..125904105-chr8:125905303..125908707,4	MCF-7	breast:
2	chr8:125865686..125867784-chr8:125906339..125908713,3	MCF-7	breast:
3	chr8:125900915..125903416-chr8:125906634..125910674,4	K562	blood:
4	chr8:125908171..125909770-chr8:125964003..125966026,2	MCF-7	breast:
5	chr8:125870030..125871866-chr8:125906853..125908897,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10956224	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11782787	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs11782922	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs11782982	0.89[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs1427083	0.90[JPT][hapmap]
rs1427088	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1427090	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs16900085	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1820534	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2052782	0.90[JPT][hapmap]
rs2052783	0.90[JPT][hapmap]
rs2052784	0.90[JPT][hapmap]
rs28817723	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28824798	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4567058	0.82[CEU][hapmap];0.90[JPT][hapmap]
rs6470321	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470323	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841783	0.93[ASN][1000 genomes]
rs986499	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125903000-125911000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125903200-125908400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:125907000-125911200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:125907400-125908800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr8:125907400-125909200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:125907400-125909400	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:125907400-125909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:125907400-125909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:125907400-125910600	Enhancers	Primary B cells from peripheral blood	blood
10	chr8:125907600-125909600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:125907600-125910600	Enhancers	Primary B cells from cord blood	blood
12	chr8:125907800-125909200	Enhancers	HUVEC	blood vessel
13	chr8:125907800-125909400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr8:125908000-125908600	Flanking Active TSS	K562	blood
15	chr8:125908000-125908800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:125908000-125909000	Enhancers	Fetal Intestine Large	intestine
17	chr8:125908000-125909000	Enhancers	NHEK	skin
18	chr8:125908000-125909200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr8:125908000-125909400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:125908000-125909400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr8:125908000-125909400	Enhancers	Adipose Nuclei	Adipose
22	chr8:125908000-125909400	Enhancers	Fetal Intestine Small	intestine
23	chr8:125908000-125909600	Enhancers	Primary T cells from cord blood	blood
24	chr8:125908200-125908400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:125908200-125908400	Bivalent Enhancer	HepG2	liver
26	chr8:125908200-125908600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:125908200-125909200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr8:125908200-125909400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:125908200-125909400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:125908200-125909600	Enhancers	Primary T helper cells PMA-I stimulated	--

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