Variant report

Variant	rs6981550
Chromosome Location	chr8:126357654-126357655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126355313..126358836-chr8:126365344..126367404,3	MCF-7	breast:
2	chr8:126356437..126358759-chr8:126364213..126366728,2	K562	blood:
3	chr8:126355551..126359333-chr8:126441199..126445900,5	MCF-7	breast:
4	chr8:126345301..126348257-chr8:126356475..126358002,2	K562	blood:
5	chr8:126345301..126349169-chr8:126355838..126358002,3	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10099164	0.94[ASN][1000 genomes]
rs10108110	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10505454	0.88[JPT][hapmap]
rs10808543	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4242368	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4319117	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4602904	0.83[JPT][hapmap]
rs4871584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871588	0.82[JPT][hapmap]
rs6470349	0.83[JPT][hapmap]
rs6989407	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7010333	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7015414	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7814083	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7818760	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7819612	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7820471	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7823958	0.82[EUR][1000 genomes]
rs7835771	0.82[EUR][1000 genomes]
rs7841947	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7844497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	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
2	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
2	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
4	chr8:126340000-126359600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:126342000-126369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:126344600-126362400	Weak transcription	Primary T cells from cord blood	blood
7	chr8:126348800-126369800	Weak transcription	Gastric	stomach
8	chr8:126351400-126360400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:126352200-126362000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:126352200-126363000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:126353200-126369600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:126353600-126365000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:126354000-126381200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:126354600-126361000	Weak transcription	Dnd41	blood
15	chr8:126354800-126369000	Weak transcription	Ovary	ovary
16	chr8:126354800-126371800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:126354800-126379800	Weak transcription	Pancreas	Pancrea
18	chr8:126354800-126380400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:126354800-126381600	Weak transcription	Brain Anterior Caudate	brain
20	chr8:126354800-126383200	Weak transcription	Brain Angular Gyrus	brain
21	chr8:126355000-126358800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:126355000-126361000	Weak transcription	Psoas Muscle	Psoas
23	chr8:126355000-126361200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:126355000-126365000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:126355000-126369400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:126355000-126369600	Weak transcription	Fetal Intestine Large	intestine
27	chr8:126355000-126374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:126355200-126358000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:126355200-126358600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:126355200-126358600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:126355200-126358600	Weak transcription	Fetal Lung	lung
32	chr8:126355200-126358800	Weak transcription	Stomach Mucosa	stomach
33	chr8:126355200-126360200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr8:126355200-126361000	Weak transcription	Fetal Intestine Small	intestine
35	chr8:126355200-126362400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:126355200-126369400	Weak transcription	Left Ventricle	heart
37	chr8:126355200-126369400	Weak transcription	Spleen	Spleen
38	chr8:126355200-126369400	Weak transcription	K562	blood
39	chr8:126355200-126369800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:126355200-126373000	Weak transcription	NH-A	brain
41	chr8:126355200-126374800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:126355200-126374800	Weak transcription	HMEC	breast
43	chr8:126355200-126378800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr8:126355400-126362400	Weak transcription	Thymus	Thymus
45	chr8:126355400-126366800	Weak transcription	HepG2	liver
46	chr8:126355400-126369600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:126355600-126359000	Weak transcription	Fetal Heart	heart
48	chr8:126355600-126359200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:126355600-126361000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:126355600-126361600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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