Variant report

Variant	rs7005105
Chromosome Location	chr8:124441504-124441505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124406999..124409661-chr8:124439973..124442313,3	MCF-7	breast:
2	chr8:124427319..124431344-chr8:124440107..124444172,5	MCF-7	breast:
3	chr8:124428647..124432680-chr8:124438774..124441647,3	K562	blood:

Variant related genes	Relation type
ENSG00000156802	Chromatin interaction
ENSG00000156795	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10087527	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089561	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110826	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956124	1.00[CHB][hapmap]
rs10956129	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956138	1.00[CHB][hapmap]
rs12234925	0.88[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547295	1.00[CHB][hapmap]
rs16898247	1.00[CHB][hapmap]
rs17254013	1.00[CHB][hapmap]
rs1817527	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2891717	1.00[CHB][hapmap]
rs35680076	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3857956	1.00[CHB][hapmap]
rs4541891	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871365	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871375	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]
rs4871376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871379	0.90[EUR][1000 genomes]
rs4871381	0.90[EUR][1000 genomes]
rs6470148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470149	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6470151	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984935	0.83[EUR][1000 genomes]
rs6989927	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6998407	1.00[CHB][hapmap]
rs7004908	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341642	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7822727	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838103	1.00[CHB][hapmap]
rs7838923	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841922	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900628	1.00[CHB][hapmap]
rs9297669	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]

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	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3415547	chr8:124420820-124444289	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124430000-124441600	Weak transcription	Thymus	Thymus
2	chr8:124430000-124443600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:124430000-124443800	Weak transcription	Esophagus	oesophagus
4	chr8:124430000-124443800	Weak transcription	Right Ventricle	heart
5	chr8:124430000-124449200	Weak transcription	Small Intestine	intestine
6	chr8:124430000-124450200	Weak transcription	Brain Germinal Matrix	brain
7	chr8:124430200-124441600	Weak transcription	Fetal Brain Female	brain
8	chr8:124430200-124442200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:124430200-124442200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:124430200-124442600	Weak transcription	Gastric	stomach
11	chr8:124430200-124443600	Weak transcription	Ovary	ovary
12	chr8:124430200-124443600	Weak transcription	NH-A	brain
13	chr8:124430200-124443800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:124430200-124443800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:124430200-124443800	Weak transcription	Primary T cells from cord blood	blood
16	chr8:124430200-124443800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:124430200-124443800	Weak transcription	Pancreas	Pancrea
18	chr8:124430200-124443800	Weak transcription	Spleen	Spleen
19	chr8:124430200-124443800	Weak transcription	HSMM	muscle
20	chr8:124430200-124447000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:124430200-124448600	Weak transcription	NHEK	skin
22	chr8:124430200-124448600	Weak transcription	NHLF	lung
23	chr8:124430200-124448800	Weak transcription	NHDF-Ad	bronchial
24	chr8:124430200-124449000	Weak transcription	Osteobl	bone
25	chr8:124430200-124449200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:124430200-124449200	Weak transcription	HUVEC	blood vessel
27	chr8:124430200-124455400	Weak transcription	Fetal Kidney	kidney
28	chr8:124430200-124456000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:124430200-124472800	Weak transcription	Colonic Mucosa	Colon
30	chr8:124430200-124484600	Weak transcription	Psoas Muscle	Psoas
31	chr8:124430400-124441600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:124430400-124441600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:124430400-124442200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:124430400-124442800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:124430400-124443200	Weak transcription	Brain Angular Gyrus	brain
36	chr8:124430400-124443800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:124430400-124443800	Weak transcription	A549	lung
38	chr8:124430400-124444000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:124430400-124444000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:124430400-124447000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr8:124430400-124449200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr8:124430400-124453000	Weak transcription	Fetal Lung	lung
43	chr8:124430600-124442600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:124430600-124461800	Weak transcription	Fetal Brain Male	brain
45	chr8:124431000-124450000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:124431200-124443800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:124431200-124460200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr8:124431200-124462200	Weak transcription	Fetal Heart	heart
49	chr8:124431400-124442200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr8:124431800-124442600	Weak transcription	Brain Cingulate Gyrus	brain

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