Variant report

Variant	rs618020
Chromosome Location	chr10:6503450-6503451
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:6502437..6503985-chr10:6505797..6507492,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11258964	0.81[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs11258984	0.82[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap];0.97[ASN][1000 genomes]
rs17299670	0.81[GIH][hapmap]
rs539103	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs542817	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs545417	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601512	1.00[ASN][1000 genomes]
rs636819	0.85[JPT][hapmap];0.81[LWK][hapmap];0.82[AFR][1000 genomes]
rs637297	0.85[JPT][hapmap];0.82[AFR][1000 genomes]
rs6602704	0.85[JPT][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	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1053440	chr10:6354798-6669469	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv1047309	chr10:6495583-6714060	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6477400-6503600	Weak transcription	Gastric	stomach
2	chr10:6488400-6506800	Weak transcription	K562	blood
3	chr10:6493400-6516200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:6496000-6508200	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr10:6496200-6506200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr10:6496200-6508200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr10:6496200-6509000	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:6496200-6511600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
9	chr10:6496200-6513000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr10:6496200-6514000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr10:6496200-6514200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr10:6496200-6514600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr10:6496600-6506400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:6496600-6539200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr10:6497600-6513200	Strong transcription	Primary T cells from cord blood	blood
16	chr10:6498400-6537000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr10:6498600-6506000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr10:6498600-6508800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr10:6498600-6510000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr10:6498600-6512000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:6498600-6518800	Weak transcription	Fetal Stomach	stomach
22	chr10:6499000-6503800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr10:6499000-6504200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:6499000-6507600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:6499000-6527800	Weak transcription	Pancreas	Pancrea
26	chr10:6499200-6562000	Weak transcription	Brain Anterior Caudate	brain
27	chr10:6500200-6504400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr10:6500200-6510200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:6501000-6513800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr10:6501200-6506400	Weak transcription	Brain Substantia Nigra	brain
31	chr10:6501400-6506200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr10:6501400-6510000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr10:6501600-6503600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr10:6501600-6504000	Weak transcription	Fetal Muscle Leg	muscle
35	chr10:6501600-6527200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr10:6501800-6505200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr10:6501800-6508200	Weak transcription	Fetal Intestine Small	intestine
38	chr10:6501800-6509200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr10:6501800-6509400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr10:6501800-6511000	Weak transcription	Aorta	Aorta
41	chr10:6501800-6513800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr10:6501800-6513800	Strong transcription	Fetal Thymus	thymus
43	chr10:6501800-6557000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr10:6502000-6503600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr10:6502000-6505400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr10:6502000-6511200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr10:6502200-6518800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr10:6502600-6506200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:6502800-6506200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr10:6503000-6504200	Strong transcription	Brain Hippocampus Middle	brain

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