Variant report

Variant	rs6983226
Chromosome Location	chr8:1957170-1957171
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10088130	0.88[EUR][1000 genomes]
rs10098493	1.00[CHB][hapmap]
rs10105508	0.89[EUR][1000 genomes]
rs10780156	0.88[EUR][1000 genomes]
rs11990435	0.84[EUR][1000 genomes]
rs11993699	0.84[EUR][1000 genomes]
rs11997759	0.83[EUR][1000 genomes]
rs12676812	0.83[EUR][1000 genomes]
rs13261654	1.00[CHB][hapmap]
rs3087819	0.85[EUR][1000 genomes]
rs4322044	0.83[EUR][1000 genomes]
rs4357331	0.82[EUR][1000 genomes]
rs4410948	1.00[CHB][hapmap]
rs4541975	1.00[CHB][hapmap]
rs4560832	1.00[CHB][hapmap]
rs62478221	0.82[EUR][1000 genomes]
rs6558575	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs7386983	0.88[EUR][1000 genomes]
rs7460119	0.88[EUR][1000 genomes]
rs9650491	1.00[CHB][hapmap]

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	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv889724	chr8:1756800-1965389	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv889731	chr8:1868842-1965389	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv889736	chr8:1892069-1965389	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv889738	chr8:1897249-1965389	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv824473	chr8:1914305-1965389	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv824474	chr8:1915145-1960212	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv824477	chr8:1915145-1965389	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1019578	chr8:1926059-1965389	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	esv1817590	chr8:1947938-1958001	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv518960	chr8:1955283-1959068	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv520178	chr8:1955283-1959336	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1950600-1957200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr8:1950600-1958200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:1951600-1958800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:1954200-1957400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:1954200-1957400	Strong transcription	Fetal Intestine Small	intestine
6	chr8:1954400-1957400	Weak transcription	Primary T cells from cord blood	blood
7	chr8:1954400-1958600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:1954400-1960200	Weak transcription	Fetal Thymus	thymus
9	chr8:1954600-1958600	Weak transcription	Brain Anterior Caudate	brain
10	chr8:1955200-1959200	Weak transcription	Fetal Kidney	kidney
11	chr8:1955600-1958000	Weak transcription	Pancreas	Pancrea
12	chr8:1955600-1959600	Weak transcription	Fetal Intestine Large	intestine
13	chr8:1955600-1960200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:1955800-1957400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:1956000-1958200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:1956000-1958800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:1956000-1958800	Weak transcription	Brain Angular Gyrus	brain
18	chr8:1956000-1958800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:1956000-1958800	Weak transcription	Brain Substantia Nigra	brain
20	chr8:1956000-1958800	Weak transcription	HSMMtube	muscle
21	chr8:1956000-1959400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:1956000-1959400	Weak transcription	Thymus	Thymus
23	chr8:1956200-1957400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr8:1956200-1958400	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:1956200-1958600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:1956200-1958800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:1956200-1958800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:1956200-1958800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:1956200-1958800	Weak transcription	HSMM	muscle
30	chr8:1956200-1959800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:1956200-1960200	Weak transcription	Fetal Brain Female	brain
32	chr8:1956400-1957200	Enhancers	Fetal Muscle Trunk	muscle
33	chr8:1956400-1959000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:1956400-1959600	Enhancers	Primary B cells from cord blood	blood
35	chr8:1956600-1958400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:1956600-1959400	Weak transcription	Lung	lung
37	chr8:1956600-1971800	Weak transcription	Brain Germinal Matrix	brain
38	chr8:1956800-1958800	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:1956800-1959000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:1957000-1957200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:1957000-1959200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:1957000-1959600	Weak transcription	Spleen	Spleen

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