Variant report

Variant	rs56215946
Chromosome Location	chr8:59739438-59739439
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13262120	1.00[ASN][1000 genomes]
rs34292465	1.00[ASN][1000 genomes]
rs34855090	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35553018	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55914621	1.00[ASN][1000 genomes]
rs56390547	1.00[ASN][1000 genomes]
rs62505095	1.00[ASN][1000 genomes]
rs62505114	1.00[ASN][1000 genomes]
rs72649452	1.00[ASN][1000 genomes]
rs72649453	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72649459	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72649470	1.00[ASN][1000 genomes]
rs72649486	1.00[ASN][1000 genomes]
rs72651322	1.00[ASN][1000 genomes]
rs72651344	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv972211	chr8:59735634-59742139	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59714600-59746000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:59715000-59742400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:59715200-59757400	Weak transcription	Fetal Intestine Large	intestine
4	chr8:59720600-59754800	Weak transcription	Small Intestine	intestine
5	chr8:59720800-59745200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:59720800-59762600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:59721000-59745000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:59721400-59745000	Weak transcription	Fetal Brain Male	brain
9	chr8:59721600-59745400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:59722400-59757200	Strong transcription	Dnd41	blood
11	chr8:59727000-59745400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:59728400-59741600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:59728400-59741600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:59729600-59740000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:59729600-59754800	Weak transcription	Gastric	stomach
16	chr8:59730200-59739800	Weak transcription	Fetal Lung	lung
17	chr8:59730800-59770800	Strong transcription	Fetal Thymus	thymus
18	chr8:59732000-59745000	Weak transcription	Fetal Kidney	kidney
19	chr8:59732200-59755200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:59734000-59740000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:59734000-59745200	Weak transcription	Fetal Brain Female	brain
22	chr8:59734200-59739600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:59734800-59740200	Strong transcription	Primary T cells from cord blood	blood
24	chr8:59735000-59739600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:59735000-59740200	Strong transcription	Thymus	Thymus
26	chr8:59735200-59739800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:59735600-59740400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:59736000-59739600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:59736400-59739600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:59736800-59739800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr8:59737200-59745000	Weak transcription	Fetal Intestine Small	intestine
32	chr8:59737600-59745000	Weak transcription	Brain Germinal Matrix	brain
33	chr8:59738600-59740200	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:59738600-59745400	Enhancers	NHDF-Ad	bronchial
35	chr8:59738800-59740000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr8:59739000-59740400	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr8:59739000-59742600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:59739000-59745400	Enhancers	NHLF	lung
39	chr8:59739000-59746200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:59739000-59753200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:59739200-59740000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:59739200-59740000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:59739200-59740000	Enhancers	Osteobl	bone
44	chr8:59739200-59740600	Enhancers	HSMM	muscle
45	chr8:59739200-59743000	Enhancers	HUVEC	blood vessel
46	chr8:59739200-59745200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:59739400-59739800	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:59739400-59739800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:59739400-59740000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:59739400-59740000	Weak transcription	Fetal Stomach	stomach

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