Variant report

Variant	rs562805095
Chromosome Location	chr2:86977150-86977151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86972255..86973795-chr2:86976969..86979051,2	K562	blood:
2	chr2:86976092..86977901-chr2:86986251..86989473,3	K562	blood:
3	chr2:86976811..86978782-chr2:86981681..86983709,3	K562	blood:

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

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	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv10063	chr2:86940988-87084360	Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002420	chr2:86948835-87172715	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv874472	chr2:86961252-87071474	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1008817	chr2:86970406-87172715	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv14382	chr2:86972214-87174121	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv997982	chr2:86972834-87105864	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1007746	chr2:86972834-87172715	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv521780	chr2:86974318-86994719	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv458585	chr2:86974318-87108211	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv582373	chr2:86974318-87108211	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1007307	chr2:86974563-87055214	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv535809	chr2:86974563-87055214	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv1003748	chr2:86975514-87032318	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv535810	chr2:86975514-87032318	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
16	nsv1004572	chr2:86975514-87082883	Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
17	nsv535811	chr2:86975514-87082883	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86949000-86979600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:86965200-86978800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:86966800-86977200	Weak transcription	Osteobl	bone
4	chr2:86968600-86993000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:86968600-86997600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:86968800-86978600	Weak transcription	Placenta	Placenta
7	chr2:86968800-86980400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:86969200-86977400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:86969200-86986400	Strong transcription	Fetal Thymus	thymus
10	chr2:86969200-86997800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:86969400-86979000	Weak transcription	Ovary	ovary
12	chr2:86969400-86984400	Weak transcription	Fetal Heart	heart
13	chr2:86969400-86997800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:86969600-86977200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:86969600-86995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:86969600-86995400	Weak transcription	Esophagus	oesophagus
17	chr2:86969800-86977200	Weak transcription	Fetal Kidney	kidney
18	chr2:86969800-86978600	Weak transcription	HSMM	muscle
19	chr2:86970000-86979800	Weak transcription	Colonic Mucosa	Colon
20	chr2:86970000-86980200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:86970000-87002000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:86970400-86980600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:86970400-86995400	Weak transcription	Aorta	Aorta
24	chr2:86971600-86993000	Weak transcription	Lung	lung
25	chr2:86972000-86978400	Weak transcription	Psoas Muscle	Psoas
26	chr2:86972000-86978800	Weak transcription	Left Ventricle	heart
27	chr2:86972000-86979000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:86972000-86987600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:86972000-86993000	Weak transcription	Right Ventricle	heart
30	chr2:86972000-86993000	Weak transcription	Spleen	Spleen
31	chr2:86972000-86995400	Weak transcription	Pancreas	Pancrea
32	chr2:86973800-86980000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:86974200-86977400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:86974200-87004200	Weak transcription	Small Intestine	intestine
35	chr2:86974400-86977400	Weak transcription	Liver	Liver
36	chr2:86974400-86978200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:86974400-86980400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr2:86974600-86977200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:86974600-86977400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:86974600-86977800	Weak transcription	Fetal Lung	lung
41	chr2:86974600-86979200	Weak transcription	K562	blood
42	chr2:86974600-86987600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:86974800-86977200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:86974800-86977400	Weak transcription	Fetal Intestine Large	intestine
45	chr2:86974800-86999800	Weak transcription	Stomach Mucosa	stomach
46	chr2:86975000-86977400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:86975000-86978200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:86975000-86980400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:86975200-86977200	Weak transcription	HSMMtube	muscle
50	chr2:86975200-86978000	Weak transcription	Rectal Mucosa Donor 29	rectum

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