Variant report

Variant	rs17816889
Chromosome Location	chr8:120753698-120753699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120748085..120749629-chr8:120753285..120754789,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10505375	1.00[YRI][hapmap]
rs10955944	1.00[YRI][hapmap]
rs11995559	0.87[YRI][hapmap]
rs1509347	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4128183	1.00[JPT][hapmap]
rs4871591	1.00[ASN][1000 genomes]
rs4871635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688262	1.00[ASN][1000 genomes]
rs72688294	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr8:120719400-120779600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:120733800-120768600	Weak transcription	Colonic Mucosa	Colon
3	chr8:120734600-120779600	Weak transcription	Gastric	stomach
4	chr8:120735000-120753800	Weak transcription	NHDF-Ad	bronchial
5	chr8:120735200-120754800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:120735200-120756400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:120736400-120767200	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:120736600-120779600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:120736600-120779800	Weak transcription	Aorta	Aorta
10	chr8:120736600-120779800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:120737400-120756800	Weak transcription	Brain Germinal Matrix	brain
12	chr8:120737600-120779000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:120737800-120759400	Weak transcription	Psoas Muscle	Psoas
14	chr8:120737800-120779600	Weak transcription	Lung	lung
15	chr8:120738600-120756600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:120741000-120779600	Weak transcription	Pancreas	Pancrea
17	chr8:120741400-120757000	Weak transcription	Brain Anterior Caudate	brain
18	chr8:120741400-120763200	Weak transcription	Right Ventricle	heart
19	chr8:120741800-120756600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:120742000-120756400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:120742200-120753800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:120742200-120755200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:120742200-120780800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:120742400-120756800	Weak transcription	Brain Angular Gyrus	brain
25	chr8:120742400-120768200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:120742400-120778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:120742400-120779400	Weak transcription	Esophagus	oesophagus
28	chr8:120742400-120782600	Weak transcription	Fetal Heart	heart
29	chr8:120742600-120812800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:120742800-120756800	Weak transcription	Fetal Brain Male	brain
31	chr8:120744000-120814600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:120744400-120756400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:120744400-120760600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:120744400-120768800	Weak transcription	Fetal Brain Female	brain
35	chr8:120744400-120771800	Weak transcription	HepG2	liver
36	chr8:120744400-120779400	Weak transcription	Spleen	Spleen
37	chr8:120744400-120824400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:120744600-120754200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:120745000-120754600	Weak transcription	Fetal Intestine Small	intestine
40	chr8:120745000-120756800	Weak transcription	Small Intestine	intestine
41	chr8:120745400-120754000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:120745400-120779000	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:120745800-120757000	Weak transcription	Fetal Kidney	kidney
44	chr8:120746000-120758800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:120746800-120772200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr8:120747600-120760000	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:120748000-120754000	Weak transcription	A549	lung
48	chr8:120748200-120759400	Strong transcription	Fetal Intestine Large	intestine
49	chr8:120748600-120778800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:120748800-120764800	Weak transcription	GM12878-XiMat	blood

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