Variant report

Variant	rs8073063
Chromosome Location	chr17:38510209-38510210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38478328..38479198-chr17:38510158..38510950,2	MCF-7	breast:
2	chr17:38509801..38512117-chr17:38520063..38521856,2	K562	blood:
3	chr17:38464514..38466930-chr17:38507552..38511765,4	K562	blood:
4	chr17:38508440..38510370-chr17:38512400..38513964,2	MCF-7	breast:
5	chr17:38498880..38501087-chr17:38510069..38512675,2	MCF-7	breast:
6	chr17:38457066..38460899-chr17:38504442..38513119,13	K562	blood:
7	chr17:38474058..38476821-chr17:38509573..38512195,3	K562	blood:

Variant related genes	Relation type
ENSG00000131759	Chromatin interaction
ENSG00000270145	Chromatin interaction
ENSG00000183153	Chromatin interaction
ENSG00000265666	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11867497	1.00[LWK][hapmap]
rs28623289	1.00[LWK][hapmap]
rs4135012	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1058540	chr17:38467043-38515087	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv908222	chr17:38504241-38526973	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38503200-38512600	Genic enhancers	Spleen	Spleen
2	chr17:38503600-38513000	Genic enhancers	A549	lung
3	chr17:38503800-38513600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr17:38504000-38511600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
5	chr17:38504000-38511600	Weak transcription	Hela-S3	cervix
6	chr17:38504400-38514000	Genic enhancers	Fetal Muscle Trunk	muscle
7	chr17:38504400-38514200	Genic enhancers	Fetal Muscle Leg	muscle
8	chr17:38504600-38511400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr17:38504800-38513000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:38505000-38513600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:38505200-38511000	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr17:38505200-38511400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:38505200-38511800	Weak transcription	Small Intestine	intestine
14	chr17:38505200-38518600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:38505400-38511000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr17:38505400-38511400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:38505400-38513000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr17:38505400-38514200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:38505600-38512800	Strong transcription	Primary T cells from cord blood	blood
20	chr17:38506000-38511000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr17:38506200-38511000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr17:38506200-38515000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr17:38506400-38510400	Genic enhancers	Primary B cells from cord blood	blood
24	chr17:38506400-38511000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr17:38506400-38512000	Strong transcription	Pancreas	Pancrea
26	chr17:38506400-38513000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr17:38506800-38512800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:38506800-38512800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
29	chr17:38506800-38513400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:38507000-38510600	Strong transcription	Ovary	ovary
31	chr17:38507000-38513400	Strong transcription	Gastric	stomach
32	chr17:38507000-38514600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr17:38507200-38511200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:38507200-38511200	Strong transcription	Adipose Nuclei	Adipose
35	chr17:38507200-38511200	Strong transcription	Right Ventricle	heart
36	chr17:38507200-38512600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:38507200-38513000	Strong transcription	NHEK	skin
38	chr17:38507200-38513600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr17:38507400-38514000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:38507600-38512200	Genic enhancers	Stomach Smooth Muscle	stomach
41	chr17:38507800-38510400	Weak transcription	Fetal Heart	heart
42	chr17:38507800-38510600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr17:38507800-38511200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:38507800-38511200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
45	chr17:38507800-38512200	Strong transcription	Thymus	Thymus
46	chr17:38508000-38510800	Strong transcription	Aorta	Aorta
47	chr17:38508000-38511200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:38508000-38511200	Weak transcription	Right Atrium	heart
49	chr17:38508000-38512400	Strong transcription	HMEC	breast
50	chr17:38508000-38512600	Strong transcription	Esophagus	oesophagus

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