Variant report

Variant	rs6470261
Chromosome Location	chr8:125732484-125732485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125732364..125734390-chr8:125826562..125828252,2	K562	blood:
2	chr8:125731376..125734284-chr8:125972311..125974487,2	MCF-7	breast:
3	chr8:125732102..125734063-chr8:125734203..125736035,2	K562	blood:
4	chr8:125730741..125733340-chr8:125739918..125741869,2	K562	blood:
5	chr8:125687873..125690261-chr8:125731665..125733961,2	MCF-7	breast:
6	chr8:125730674..125732693-chr8:125825139..125827888,2	K562	blood:
7	chr8:125723773..125726470-chr8:125730647..125734665,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12547578	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430850	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430852	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430853	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978661	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288665	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4870919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4870920	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470263	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993178	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs729513	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs733759	0.83[GIH][hapmap]
rs7824588	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833290	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878684	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs891541	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125722600-125732600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr8:125723200-125737200	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:125723600-125737200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:125724600-125738200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:125724800-125737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:125725600-125735200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:125726800-125734000	Weak transcription	Fetal Thymus	thymus
8	chr8:125727600-125732800	Enhancers	Left Ventricle	heart
9	chr8:125728000-125732600	Weak transcription	Fetal Intestine Large	intestine
10	chr8:125728000-125734800	Enhancers	Fetal Muscle Leg	muscle
11	chr8:125728400-125734800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:125728600-125732600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:125728800-125732600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:125728800-125732600	Enhancers	Primary B cells from cord blood	blood
15	chr8:125728800-125736400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:125729000-125733000	Enhancers	Primary B cells from peripheral blood	blood
17	chr8:125730000-125733200	Enhancers	Brain Hippocampus Middle	brain
18	chr8:125730000-125733600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr8:125730000-125735000	Enhancers	Right Ventricle	heart
20	chr8:125730000-125735600	Enhancers	Spleen	Spleen
21	chr8:125730000-125737600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:125730200-125733000	Enhancers	Brain Anterior Caudate	brain
23	chr8:125730200-125733000	Enhancers	Lung	lung
24	chr8:125730200-125733400	Enhancers	Brain Angular Gyrus	brain
25	chr8:125730200-125733400	Enhancers	Psoas Muscle	Psoas
26	chr8:125730200-125737000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr8:125730200-125737600	Enhancers	Fetal Heart	heart
28	chr8:125730400-125733000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:125730600-125733400	Enhancers	Right Atrium	heart
30	chr8:125730600-125733600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:125730800-125732600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:125730800-125733400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr8:125730800-125734000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:125731000-125734000	Weak transcription	Fetal Brain Female	brain
35	chr8:125731000-125734600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:125731000-125738200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr8:125731200-125733000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:125731200-125733400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:125731200-125736000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:125731400-125732600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr8:125731400-125732600	Weak transcription	Brain Substantia Nigra	brain
42	chr8:125731400-125734600	Enhancers	Brain Germinal Matrix	brain
43	chr8:125731400-125735200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr8:125731400-125738200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:125731400-125738400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:125731600-125734000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:125731600-125735200	Enhancers	Pancreas	Pancrea
48	chr8:125731800-125732600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:125731800-125733800	Weak transcription	Fetal Brain Male	brain
50	chr8:125732000-125733400	Enhancers	Stomach Mucosa	stomach

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