Variant report

Variant	rs6741397
Chromosome Location	chr2:30585905-30585906
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30585635..30588631-chr2:30590079..30592633,2	K562	blood:
2	chr2:30581738..30584056-chr2:30585628..30587536,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12988612	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56082933	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56185028	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6744525	0.89[EUR][1000 genomes]
rs7576009	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7578449	0.88[CEU][hapmap]
rs7579095	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs829586	0.80[EUR][1000 genomes]
rs829587	0.80[EUR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv873769	chr2:30585638-30625264	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30581200-30586000	Enhancers	Fetal Thymus	thymus
2	chr2:30581400-30586000	Enhancers	Placenta	Placenta
3	chr2:30581400-30586200	Enhancers	Left Ventricle	heart
4	chr2:30581400-30586200	Enhancers	Right Ventricle	heart
5	chr2:30581600-30586400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:30581600-30586600	Enhancers	Primary T cells from cord blood	blood
7	chr2:30581800-30586200	Enhancers	Lung	lung
8	chr2:30582000-30586200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:30582000-30586400	Enhancers	Adipose Nuclei	Adipose
10	chr2:30582000-30586400	Enhancers	Fetal Lung	lung
11	chr2:30582000-30591600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:30582400-30586200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:30582400-30586200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr2:30582400-30586200	Enhancers	Spleen	Spleen
15	chr2:30582400-30589600	Enhancers	Fetal Heart	heart
16	chr2:30582600-30586000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr2:30582600-30586000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr2:30582600-30586200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr2:30583200-30586000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:30583200-30586000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:30583200-30589400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:30583200-30591400	Weak transcription	Gastric	stomach
23	chr2:30583800-30586000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:30584000-30586200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:30584000-30586200	Enhancers	Right Atrium	heart
26	chr2:30584000-30586400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:30584200-30586000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:30584200-30586000	Enhancers	HMEC	breast
29	chr2:30584200-30586400	Enhancers	Aorta	Aorta
30	chr2:30584400-30586000	Enhancers	Esophagus	oesophagus
31	chr2:30584400-30586000	Enhancers	Fetal Muscle Leg	muscle
32	chr2:30584400-30586200	Enhancers	Psoas Muscle	Psoas
33	chr2:30584400-30586400	Enhancers	Osteobl	bone
34	chr2:30584600-30586200	Enhancers	Colon Smooth Muscle	Colon
35	chr2:30584600-30586200	Enhancers	Ovary	ovary
36	chr2:30584600-30586200	Enhancers	Rectal Smooth Muscle	rectum
37	chr2:30584600-30586600	Enhancers	NHLF	lung
38	chr2:30584800-30586000	Enhancers	HUVEC	blood vessel
39	chr2:30584800-30586200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:30584800-30586200	Enhancers	Pancreas	Pancrea
41	chr2:30584800-30586600	Enhancers	HSMMtube	muscle
42	chr2:30584800-30586800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:30585000-30586200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr2:30585000-30586200	Enhancers	Fetal Kidney	kidney
45	chr2:30585000-30586600	Enhancers	A549	lung
46	chr2:30585000-30586800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:30585200-30586000	Enhancers	Fetal Stomach	stomach
48	chr2:30585200-30586400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:30585200-30586400	Enhancers	HSMM	muscle
50	chr2:30585400-30586000	Enhancers	Fetal Intestine Small	intestine

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