Variant report

Variant	rs7017646
Chromosome Location	chr8:123852537-123852538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:123851656..123854607-chr8:123855741..123859546,3	K562	blood:
2	chr8:123851985..123854064-chr8:123878453..123881226,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221542	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73331733	1.00[AMR][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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:123819000-123863400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:123823000-123859600	Weak transcription	Thymus	Thymus
3	chr8:123824200-123857200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:123826400-123852800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:123830000-123866400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:123830200-123874000	Weak transcription	Colonic Mucosa	Colon
7	chr8:123830600-123855800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:123837400-123876000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:123837600-123863800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:123837800-123859600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:123838400-123855800	Weak transcription	Fetal Intestine Large	intestine
12	chr8:123838600-123855800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:123839000-123852800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:123841000-123853000	Weak transcription	Gastric	stomach
15	chr8:123841000-123855200	Weak transcription	Aorta	Aorta
16	chr8:123841000-123855600	Weak transcription	Liver	Liver
17	chr8:123841000-123867200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:123841200-123863800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:123842600-123853000	Weak transcription	Esophagus	oesophagus
20	chr8:123843600-123855000	Weak transcription	Ovary	ovary
21	chr8:123843800-123865400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:123844600-123853200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:123846800-123855600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:123847200-123857400	Enhancers	Brain Cingulate Gyrus	brain
25	chr8:123847600-123857600	Enhancers	Brain Substantia Nigra	brain
26	chr8:123847800-123853400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr8:123847800-123853600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:123848400-123863800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr8:123848600-123854000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:123848600-123855200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:123848800-123852800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:123849000-123853200	Weak transcription	Fetal Stomach	stomach
33	chr8:123849200-123853000	Weak transcription	Fetal Intestine Small	intestine
34	chr8:123849200-123853000	Weak transcription	Lung	lung
35	chr8:123849200-123853200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:123849200-123853200	Weak transcription	Spleen	Spleen
37	chr8:123849200-123855200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:123849200-123863800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:123850000-123853000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:123850000-123859400	Weak transcription	GM12878-XiMat	blood
41	chr8:123850000-123864400	Enhancers	Left Ventricle	heart
42	chr8:123850200-123852800	Weak transcription	HepG2	liver
43	chr8:123850400-123855000	Weak transcription	Fetal Muscle Leg	muscle
44	chr8:123850600-123852600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:123850600-123852800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:123850600-123852800	Weak transcription	Fetal Brain Male	brain
47	chr8:123850600-123852800	Weak transcription	Right Atrium	heart
48	chr8:123850600-123853000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:123850600-123853400	Weak transcription	Primary T cells from cord blood	blood
50	chr8:123850600-123854000	Enhancers	Brain Germinal Matrix	brain

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