Variant report

Variant	rs2285314
Chromosome Location	chr9:118053463-118053464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10481680	0.85[CHB][hapmap]
rs10817733	0.85[CHB][hapmap]
rs10817741	0.90[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs10817742	0.85[ASN][1000 genomes]
rs10982619	0.80[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap]
rs10982621	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10982654	0.86[CHB][hapmap]
rs12683875	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs2183700	0.81[CHB][hapmap]
rs2285315	0.83[ASN][1000 genomes]
rs2418327	0.82[CHB][hapmap]
rs2989508	0.81[CHB][hapmap]
rs2992142	0.81[CHB][hapmap]
rs2992144	0.81[CHB][hapmap]
rs4112338	0.84[CHB][hapmap]
rs4147051	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs7045314	1.00[AMR][1000 genomes]
rs7045494	1.00[AMR][1000 genomes]
rs73563096	1.00[AMR][1000 genomes]
rs7846857	0.85[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv615251	chr9:117975864-118514444	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118048600-118054000	Weak transcription	HSMM	muscle
2	chr9:118049000-118053800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:118051800-118055200	Enhancers	Colon Smooth Muscle	Colon
4	chr9:118052000-118060000	Enhancers	Fetal Intestine Small	intestine
5	chr9:118052200-118053800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:118052200-118059600	Enhancers	Fetal Intestine Large	intestine
7	chr9:118052400-118054000	Weak transcription	Fetal Stomach	stomach
8	chr9:118052600-118053800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:118052600-118056200	Enhancers	Osteobl	bone
10	chr9:118052800-118054000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr9:118052800-118054600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:118052800-118055000	Enhancers	Duodenum Mucosa	Duodenum
13	chr9:118052800-118055200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:118052800-118055400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr9:118052800-118055600	Enhancers	Stomach Mucosa	stomach
16	chr9:118053000-118053600	Weak transcription	Aorta	Aorta
17	chr9:118053000-118053800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:118053000-118054000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr9:118053000-118054000	Weak transcription	Fetal Lung	lung
20	chr9:118053000-118054000	Weak transcription	NH-A	brain
21	chr9:118053000-118054200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:118053000-118054800	Weak transcription	Gastric	stomach
23	chr9:118053000-118055200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:118053000-118055200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr9:118053000-118055800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:118053200-118054000	Weak transcription	Fetal Muscle Leg	muscle
27	chr9:118053200-118054800	Weak transcription	Lung	lung
28	chr9:118053200-118059400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:118053400-118053800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:118053400-118055200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr9:118053400-118055200	Enhancers	NHEK	skin
32	chr9:118053400-118055400	Enhancers	HMEC	breast
33	chr9:118053400-118056000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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