Variant report

Variant	rs72862286
Chromosome Location	chr2:32317295-32317296
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	chr2:32317095..32319080-chr2:32338095..32340081,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs60619610	1.00[AFR][1000 genomes]
rs72859020	0.85[AFR][1000 genomes]
rs72860903	1.00[AFR][1000 genomes]
rs72862256	1.00[AFR][1000 genomes]
rs72862258	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv873778	chr2:32297984-32409007	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32289600-32330800	Weak transcription	Spleen	Spleen
2	chr2:32289800-32319400	Weak transcription	Aorta	Aorta
3	chr2:32289800-32319400	Weak transcription	Pancreas	Pancrea
4	chr2:32289800-32330800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:32290000-32318600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:32290200-32330800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:32290400-32331000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:32290400-32353400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:32290600-32330800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:32290800-32330200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:32291000-32330400	Weak transcription	Brain Anterior Caudate	brain
12	chr2:32291000-32330800	Weak transcription	Brain Angular Gyrus	brain
13	chr2:32291000-32332600	Weak transcription	A549	lung
14	chr2:32291400-32327600	Weak transcription	Hela-S3	cervix
15	chr2:32291400-32331000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:32291600-32322000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:32291600-32330800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:32291600-32330800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:32291600-32332200	Weak transcription	HUVEC	blood vessel
20	chr2:32292000-32330800	Weak transcription	Lung	lung
21	chr2:32292000-32343200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:32292400-32330800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:32292600-32317600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:32292600-32353800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:32294600-32325000	Weak transcription	Dnd41	blood
26	chr2:32295000-32330200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:32295800-32353800	Weak transcription	Fetal Brain Male	brain
28	chr2:32296400-32362600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr2:32296800-32321400	Weak transcription	K562	blood
30	chr2:32297600-32360600	Weak transcription	Osteobl	bone
31	chr2:32298800-32341400	Weak transcription	Small Intestine	intestine
32	chr2:32300000-32339600	Weak transcription	HepG2	liver
33	chr2:32300200-32320600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:32301000-32318000	Strong transcription	Fetal Intestine Small	intestine
35	chr2:32303800-32330800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:32304600-32319000	Weak transcription	Fetal Brain Female	brain
37	chr2:32305000-32319000	Weak transcription	Primary T cells from cord blood	blood
38	chr2:32309800-32381200	Weak transcription	NHDF-Ad	bronchial
39	chr2:32311600-32330800	Weak transcription	Psoas Muscle	Psoas
40	chr2:32311800-32331000	Weak transcription	Gastric	stomach
41	chr2:32312000-32330800	Weak transcription	Brain Substantia Nigra	brain
42	chr2:32312200-32330800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:32312400-32318800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:32312400-32319800	Strong transcription	Liver	Liver
45	chr2:32312400-32330800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:32312600-32331000	Weak transcription	Colonic Mucosa	Colon
47	chr2:32313200-32317400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:32313200-32319800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:32313200-32320600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:32313200-32360600	Weak transcription	NH-A	brain

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