Variant report

Variant	rs332027
Chromosome Location	chr8:8777400-8777401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8771578..8774012-chr8:8776513..8780192,4	K562	blood:
2	chr8:8776686..8778315-chr8:8828104..8830200,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs388774	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1017715	chr8:8766881-8785883	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv275541	chr8:8766881-8791144	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8763200-8783200	Weak transcription	Pancreas	Pancrea
2	chr8:8771800-8777600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:8774600-8777400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr8:8774600-8777400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr8:8774800-8777800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:8774800-8777800	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:8775000-8777800	Enhancers	Primary B cells from cord blood	blood
8	chr8:8775000-8777800	Enhancers	Thymus	Thymus
9	chr8:8775000-8778200	Enhancers	Fetal Thymus	thymus
10	chr8:8775600-8780600	Weak transcription	HepG2	liver
11	chr8:8775800-8777800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:8775800-8780400	Weak transcription	Fetal Intestine Large	intestine
13	chr8:8775800-8780400	Weak transcription	Fetal Intestine Small	intestine
14	chr8:8776000-8777800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:8776200-8778000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:8776400-8777600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr8:8776400-8777800	Enhancers	Primary hematopoietic stem cells	blood
18	chr8:8776400-8778600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr8:8776400-8780200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:8776600-8777400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr8:8776600-8780800	Weak transcription	Stomach Mucosa	stomach
22	chr8:8776600-8792800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:8776800-8777600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr8:8776800-8777800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:8776800-8777800	Flanking Active TSS	Dnd41	blood
26	chr8:8777000-8777400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:8777000-8777400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:8777000-8777400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:8777000-8777400	Enhancers	GM12878-XiMat	blood
30	chr8:8777000-8778400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:8777000-8778800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr8:8777200-8777600	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr8:8777200-8777600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:8777200-8777600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:8777200-8777800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr8:8777200-8778000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:8777200-8778200	Enhancers	HUVEC	blood vessel
38	chr8:8777200-8778400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr8:8777200-8778600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr8:8777200-8778600	Active TSS	Duodenum Mucosa	Duodenum
41	chr8:8777400-8777600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr8:8777400-8777600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:8777400-8777800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr8:8777400-8778000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:8777400-8778200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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