Variant report

Variant	rs829609
Chromosome Location	chr2:30632216-30632217
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30623807..30625999-chr2:30630909..30632513,2	K562	blood:
2	chr2:30627344..30629722-chr2:30630917..30632644,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10495775	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17009435	0.94[EUR][1000 genomes]
rs4519570	0.81[EUR][1000 genomes]
rs6707509	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[EUR][1000 genomes]
rs6756908	0.81[CEU][hapmap]
rs711238	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs711239	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73925153	0.83[EUR][1000 genomes]
rs829607	0.81[EUR][1000 genomes]
rs829608	0.87[AFR][1000 genomes]
rs829612	0.80[YRI][hapmap];0.82[AFR][1000 genomes]
rs829613	0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs844193	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs864365	0.95[EUR][1000 genomes];0.82[ASN][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	nsv581262	chr2:30623062-30633796	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 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	chr2:30619400-30637200	Enhancers	Fetal Stomach	stomach
2	chr2:30624800-30633200	Enhancers	Fetal Heart	heart
3	chr2:30625000-30636200	Enhancers	Rectal Smooth Muscle	rectum
4	chr2:30626000-30633800	Enhancers	Left Ventricle	heart
5	chr2:30626000-30634000	Enhancers	Right Ventricle	heart
6	chr2:30626000-30638000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:30627600-30647200	Weak transcription	Brain Angular Gyrus	brain
8	chr2:30628000-30644400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:30628200-30633400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:30628200-30636000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:30628400-30632800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:30628400-30639800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:30628600-30632800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:30628600-30634800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:30629400-30632400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:30629400-30634200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:30629400-30635400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:30629600-30638000	Enhancers	Fetal Lung	lung
19	chr2:30629800-30634000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:30629800-30634200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:30629800-30638800	Enhancers	NHDF-Ad	bronchial
22	chr2:30630200-30632400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr2:30630200-30633800	Enhancers	Ovary	ovary
24	chr2:30630200-30635200	Enhancers	Fetal Thymus	thymus
25	chr2:30630200-30638000	Enhancers	NHLF	lung
26	chr2:30630400-30632600	Enhancers	Fetal Muscle Leg	muscle
27	chr2:30630400-30632600	Enhancers	Placenta	Placenta
28	chr2:30630400-30632600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:30630400-30632600	Enhancers	HSMM	muscle
30	chr2:30630400-30632800	Enhancers	Spleen	Spleen
31	chr2:30630400-30633600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:30630400-30633800	Enhancers	Osteobl	bone
33	chr2:30630400-30634000	Enhancers	NH-A	brain
34	chr2:30630400-30634200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:30630400-30634200	Enhancers	Thymus	Thymus
36	chr2:30630400-30634200	Enhancers	HUVEC	blood vessel
37	chr2:30630600-30635000	Enhancers	Primary T cells from cord blood	blood
38	chr2:30630800-30633400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:30630800-30634000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr2:30631000-30633600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr2:30631200-30633200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:30631200-30634000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr2:30631200-30639800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:30631400-30632600	Weak transcription	Aorta	Aorta
45	chr2:30631400-30635600	Weak transcription	Fetal Intestine Large	intestine
46	chr2:30631600-30633000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:30631600-30633200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr2:30631600-30633200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:30631600-30636200	Enhancers	Stomach Smooth Muscle	stomach
50	chr2:30631600-30636400	Weak transcription	Fetal Muscle Trunk	muscle

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