Variant report

Variant	rs2820233
Chromosome Location	chr6:35002048-35002049
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	chr6:34994556..34998578-chr6:34998827..35004744,6	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10947537	0.84[CHB][hapmap]
rs12525532	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs12661389	0.84[CHB][hapmap]
rs1535001	0.90[JPT][hapmap]
rs1535815	0.84[CHB][hapmap]
rs1996912	0.84[JPT][hapmap]
rs2257663	0.90[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2494100	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs2689091	0.94[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs2689094	0.90[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2762335	0.92[ASN][1000 genomes]
rs2762337	0.88[ASN][1000 genomes]
rs2762343	0.84[CHB][hapmap]
rs2762345	0.94[ASN][1000 genomes]
rs2820223	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2820226	0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs2820228	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs2820232	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2820234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2820237	0.90[JPT][hapmap]
rs3817473	0.90[JPT][hapmap]
rs3823438	1.00[JPT][hapmap]
rs4646949	0.81[JPT][hapmap]
rs847846	0.85[JPT][hapmap]
rs847850	0.95[JPT][hapmap]
rs847851	0.90[JPT][hapmap]
rs847852	0.90[JPT][hapmap];0.88[AFR][1000 genomes]
rs847858	0.90[JPT][hapmap]
rs847859	0.90[JPT][hapmap]

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	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34939400-35016000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:34963600-35006600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:34986200-35015000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr6:34986400-35011800	Weak transcription	Dnd41	blood
5	chr6:34986800-35014800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:34987000-35009000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:34987000-35015800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:34987400-35015800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr6:34989000-35002800	Weak transcription	Fetal Thymus	thymus
10	chr6:34989400-35002200	Weak transcription	Thymus	Thymus
11	chr6:34990800-35002800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:34992800-35011800	Weak transcription	Brain Germinal Matrix	brain
13	chr6:34993400-35002600	Weak transcription	Small Intestine	intestine
14	chr6:34993800-35006000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:34993800-35014600	Weak transcription	Fetal Brain Male	brain
16	chr6:34994000-35002400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:34994200-35004000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:34994200-35014400	Weak transcription	NHLF	lung
19	chr6:34994400-35003200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:34994400-35005400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:34994600-35036000	Weak transcription	K562	blood
22	chr6:34995000-35002200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:34995000-35002200	Weak transcription	NHDF-Ad	bronchial
24	chr6:34995000-35002400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:34995000-35005600	Weak transcription	Osteobl	bone
26	chr6:34995000-35005800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:34995000-35013800	Weak transcription	Hela-S3	cervix
28	chr6:34995200-35002200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:34995200-35003400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:34995400-35002400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:34995600-35002200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr6:34995600-35002600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:34995600-35002800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr6:34995600-35003800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:34995800-35002200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:34996000-35002800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:34996000-35015200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr6:34996200-35002200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:34996200-35002600	Weak transcription	Pancreas	Pancrea
40	chr6:34996200-35002600	Weak transcription	Psoas Muscle	Psoas
41	chr6:34996200-35005400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:34996200-35010000	Weak transcription	Ovary	ovary
43	chr6:34996800-35003400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:34997800-35002600	Enhancers	Rectal Smooth Muscle	rectum
45	chr6:34997800-35004800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:34998200-35002400	Weak transcription	HSMM	muscle
47	chr6:34998400-35002200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:34998400-35002200	Strong transcription	Fetal Muscle Leg	muscle
49	chr6:34998400-35002600	Strong transcription	Primary T cells from cord blood	blood
50	chr6:34998600-35002600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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