Variant report

Variant	rs298621
Chromosome Location	chr8:130850943-130850944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130850282..130852746-chr8:130853910..130856034,2	K562	blood:
2	chr8:130844452..130847212-chr8:130849205..130851282,2	K562	blood:
3	chr8:130850096..130852746-chr8:130854534..130856077,2	K562	blood:

Variant related genes	Relation type
ENSG00000254317	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10956493	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1600794	1.00[CHB][hapmap]
rs1600932	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1600933	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1600934	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs17190932	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs1842793	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1967019	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2624809	1.00[JPT][hapmap]
rs2624810	0.85[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.80[MEX][hapmap];0.82[MKK][hapmap];0.85[YRI][hapmap]
rs2624813	1.00[YRI][hapmap]
rs298608	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs298622	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs439184	1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.80[MEX][hapmap];0.86[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap]
rs4733559	1.00[CHB][hapmap]
rs837083	0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.80[MEX][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes]
rs9297800	1.00[CHB][hapmap]
rs967974	1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130838600-130852200	Weak transcription	Psoas Muscle	Psoas
2	chr8:130838800-130852200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:130839000-130852200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:130839000-130860200	Weak transcription	Fetal Intestine Small	intestine
5	chr8:130839200-130882000	Weak transcription	Right Ventricle	heart
6	chr8:130839400-130852600	Weak transcription	Fetal Intestine Large	intestine
7	chr8:130844800-130852200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:130845600-130851400	Weak transcription	A549	lung
9	chr8:130845600-130882000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:130845800-130852000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:130846000-130882000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:130846200-130853000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:130846400-130852600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:130846400-130852800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:130846400-130852800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:130846400-130881800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:130846600-130854000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:130847200-130851200	Weak transcription	Fetal Brain Male	brain
19	chr8:130847200-130851800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:130847600-130855200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:130847800-130851400	Weak transcription	Thymus	Thymus
22	chr8:130847800-130852000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:130847800-130852000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr8:130847800-130852000	Weak transcription	HUVEC	blood vessel
25	chr8:130847800-130854200	Weak transcription	K562	blood
26	chr8:130847800-130855600	Weak transcription	Pancreas	Pancrea
27	chr8:130847800-130863800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:130848400-130852000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:130848400-130852400	Weak transcription	HMEC	breast
30	chr8:130848400-130854600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr8:130848600-130851200	Weak transcription	Primary T cells from cord blood	blood
32	chr8:130848600-130852000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:130848800-130852000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:130849000-130851000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr8:130849000-130852000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr8:130849000-130852000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:130849000-130852000	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:130849200-130851800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:130849200-130853600	Weak transcription	HepG2	liver
40	chr8:130849400-130852000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:130849400-130852400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:130849400-130852600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr8:130849400-130852800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:130849600-130851400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:130849600-130852000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:130849600-130852000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:130849600-130852800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:130849800-130851600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr8:130849800-130852200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:130849800-130852200	Weak transcription	Fetal Muscle Trunk	muscle

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