Variant report

Variant	rs906869
Chromosome Location	chr2:30524273-30524274
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10206415	1.00[CHB][hapmap]
rs11680075	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11681599	1.00[CHB][hapmap]
rs11684717	1.00[CHB][hapmap]
rs11694633	1.00[CHB][hapmap]
rs12476050	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13003088	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13007792	1.00[CHB][hapmap]
rs13391413	0.92[ASN][1000 genomes]
rs17736058	1.00[CHB][hapmap]
rs17792620	1.00[CHB][hapmap]
rs6708166	1.00[CHB][hapmap]
rs6755863	1.00[CHB][hapmap]
rs906864	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv2663	chr2:30522750-30567544	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3432717	chr2:30524116-30524375	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	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	chr2:30518200-30524600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:30522200-30524400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:30522600-30524400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:30522600-30524400	Weak transcription	Esophagus	oesophagus
5	chr2:30522600-30524600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:30522600-30524600	Enhancers	Rectal Smooth Muscle	rectum
7	chr2:30522600-30524800	Enhancers	Left Ventricle	heart
8	chr2:30522600-30525000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:30522600-30525000	Enhancers	Fetal Stomach	stomach
10	chr2:30522600-30525200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:30522600-30525400	Enhancers	NHDF-Ad	bronchial
12	chr2:30522600-30525600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:30522600-30525800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:30522800-30524600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:30522800-30524600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:30522800-30524600	Enhancers	Ovary	ovary
17	chr2:30522800-30524600	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr2:30522800-30524800	Enhancers	Fetal Lung	lung
19	chr2:30522800-30525000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:30522800-30525000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:30522800-30525200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr2:30522800-30525200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:30522800-30525200	Enhancers	NH-A	brain
24	chr2:30522800-30525800	Enhancers	NHLF	lung
25	chr2:30522800-30526000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:30522800-30526200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:30523000-30524600	Enhancers	Pancreas	Pancrea
28	chr2:30523000-30525200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:30523000-30525200	Enhancers	Fetal Thymus	thymus
30	chr2:30523000-30526000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:30523200-30524400	Enhancers	Fetal Muscle Leg	muscle
32	chr2:30523200-30524600	Flanking Active TSS	A549	lung
33	chr2:30523200-30524800	Enhancers	HSMM	muscle
34	chr2:30523200-30525000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:30523400-30524600	Enhancers	Fetal Intestine Small	intestine
36	chr2:30523400-30525800	Enhancers	HSMMtube	muscle
37	chr2:30523400-30528000	Weak transcription	K562	blood
38	chr2:30523600-30524600	Enhancers	Colon Smooth Muscle	Colon
39	chr2:30523600-30524800	Weak transcription	Thymus	Thymus
40	chr2:30523600-30526200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:30523600-30526600	Weak transcription	Aorta	Aorta
42	chr2:30523800-30524400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:30524000-30524400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr2:30524000-30524600	Enhancers	Fetal Intestine Large	intestine
45	chr2:30524000-30524600	Enhancers	Right Ventricle	heart
46	chr2:30524000-30525400	Enhancers	Primary B cells from peripheral blood	blood
47	chr2:30524000-30526600	Enhancers	Fetal Heart	heart
48	chr2:30524000-30527800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:30524000-30527800	Weak transcription	Osteobl	bone
50	chr2:30524200-30524400	Enhancers	Right Atrium	heart

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