Variant report

Variant	rs6985283
Chromosome Location	chr8:19554641-19554642
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11989006	0.85[EUR][1000 genomes]
rs17128814	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs57167192	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58532780	0.85[EUR][1000 genomes]
rs60443509	0.97[EUR][1000 genomes]
rs60778959	0.97[EUR][1000 genomes]
rs6989904	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7012082	0.97[EUR][1000 genomes]
rs7012089	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv465602	chr8:19536015-19555398	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv610757	chr8:19536015-19555398	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv465603	chr8:19537084-19555398	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv465604	chr8:19537084-19555398	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv465606	chr8:19537084-19555398	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv465607	chr8:19537084-19555398	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv470203	chr8:19537084-19555398	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv610758	chr8:19537084-19555398	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv528523	chr8:19546696-19555398	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19541000-19567400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:19548200-19559200	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:19549600-19555200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:19550200-19556000	Enhancers	Fetal Thymus	thymus
5	chr8:19550200-19558600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:19550200-19558600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:19550400-19558400	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:19551000-19556000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:19551800-19558200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:19552000-19554800	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr8:19552000-19555200	Enhancers	Adipose Nuclei	Adipose
12	chr8:19552000-19555400	Enhancers	Right Atrium	heart
13	chr8:19552400-19555400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr8:19552400-19558600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:19552600-19554800	Weak transcription	Small Intestine	intestine
16	chr8:19552800-19557800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:19553000-19555600	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr8:19553200-19555200	Enhancers	Duodenum Mucosa	Duodenum
19	chr8:19553600-19554800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr8:19553600-19554800	Flanking Active TSS	GM12878-XiMat	blood
21	chr8:19553600-19555000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr8:19553600-19555800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:19553600-19556000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr8:19553800-19554800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr8:19553800-19555000	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr8:19553800-19555000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr8:19553800-19555000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr8:19553800-19555200	Enhancers	Fetal Muscle Leg	muscle
29	chr8:19553800-19555200	Enhancers	Rectal Smooth Muscle	rectum
30	chr8:19553800-19555400	Enhancers	Right Ventricle	heart
31	chr8:19554000-19554800	Enhancers	Gastric	stomach
32	chr8:19554000-19554800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr8:19554000-19555000	Enhancers	Esophagus	oesophagus
34	chr8:19554000-19555000	Enhancers	Placenta	Placenta
35	chr8:19554000-19555000	Weak transcription	Fetal Stomach	stomach
36	chr8:19554000-19555000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr8:19554000-19555000	Flanking Active TSS	Dnd41	blood
38	chr8:19554000-19555200	Enhancers	Lung	lung
39	chr8:19554000-19555400	Enhancers	Left Ventricle	heart
40	chr8:19554000-19555400	Enhancers	Spleen	Spleen
41	chr8:19554200-19554800	Enhancers	Brain Cingulate Gyrus	brain
42	chr8:19554200-19554800	Enhancers	Brain Substantia Nigra	brain
43	chr8:19554200-19554800	Enhancers	Psoas Muscle	Psoas
44	chr8:19554200-19555000	Strong transcription	A549	lung
45	chr8:19554200-19555400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:19554200-19555400	Enhancers	Colonic Mucosa	Colon
47	chr8:19554400-19554800	Enhancers	Brain Anterior Caudate	brain
48	chr8:19554400-19555600	Enhancers	Fetal Lung	lung
49	chr8:19554400-19555800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:19554600-19555000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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