Variant report

Variant	rs2241647
Chromosome Location	chr15:34159986-34159987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10438377	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs16958147	0.89[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.83[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs17817680	0.94[CHB][hapmap];0.83[CHD][hapmap]
rs2288603	0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs3764234	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs59378948	0.82[AFR][1000 genomes]
rs713202	0.94[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.81[LWK][hapmap];0.85[TSI][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043046	chr15:33714908-34321330	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv568921	chr15:34046635-34247622	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1044844	chr15:34065524-34296829	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34137400-34164200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:34139800-34164200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:34142400-34168600	Weak transcription	Esophagus	oesophagus
4	chr15:34143000-34165000	Weak transcription	Psoas Muscle	Psoas
5	chr15:34143400-34160400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:34143600-34164200	Weak transcription	Brain Angular Gyrus	brain
7	chr15:34145000-34161200	Weak transcription	Small Intestine	intestine
8	chr15:34146800-34164000	Weak transcription	Right Ventricle	heart
9	chr15:34147200-34162400	Weak transcription	Pancreas	Pancrea
10	chr15:34147400-34164200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:34149400-34165800	Weak transcription	Fetal Intestine Small	intestine
12	chr15:34150200-34164000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:34150200-34164000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr15:34150800-34167400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr15:34151600-34161000	Weak transcription	Thymus	Thymus
16	chr15:34152000-34164200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:34152400-34161800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:34152400-34162400	Weak transcription	Spleen	Spleen
19	chr15:34152400-34167600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr15:34152600-34160000	Weak transcription	Fetal Brain Female	brain
21	chr15:34152600-34164200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr15:34152600-34164200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:34153200-34164200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr15:34153400-34166400	Weak transcription	HMEC	breast
25	chr15:34153600-34161000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:34153600-34164400	Weak transcription	NHDF-Ad	bronchial
27	chr15:34153600-34165000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr15:34153600-34166000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:34153600-34166000	Weak transcription	NHEK	skin
30	chr15:34153800-34164200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:34153800-34164400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr15:34153800-34164600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr15:34154200-34160200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr15:34155600-34160000	Strong transcription	Fetal Muscle Leg	muscle
35	chr15:34155600-34169600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:34156000-34163800	Weak transcription	Fetal Brain Male	brain
37	chr15:34156200-34160400	Strong transcription	Primary T cells from cord blood	blood
38	chr15:34156800-34161000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr15:34156800-34161600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:34156800-34161600	Weak transcription	Colon Smooth Muscle	Colon
41	chr15:34157000-34164200	Weak transcription	Primary B cells from cord blood	blood
42	chr15:34157800-34160400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr15:34158000-34160200	Weak transcription	Dnd41	blood
44	chr15:34158000-34160800	Weak transcription	GM12878-XiMat	blood
45	chr15:34158000-34164000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr15:34158200-34160000	Strong transcription	Left Ventricle	heart
47	chr15:34158200-34160400	Strong transcription	Brain Substantia Nigra	brain
48	chr15:34158200-34160400	Enhancers	Placenta	Placenta
49	chr15:34158200-34164000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr15:34158400-34160000	Strong transcription	Fetal Stomach	stomach

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