Variant report

Variant	rs2015561
Chromosome Location	chr17:38593294-38593295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38587923..38591705-chr17:38591977..38594441,3	MCF-7	breast:
2	chr17:38592886..38594691-chr17:38595993..38598092,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240125	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1009570	0.90[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10852940	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11078945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657212	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16965783	1.00[YRI][hapmap]
rs1868758	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35103116	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4890114	0.81[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs56394376	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs584438	0.90[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.96[MKK][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs584828	0.90[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs598892	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs632224	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38579600-38598800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:38584600-38600200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr17:38589600-38598800	Weak transcription	Fetal Intestine Small	intestine
4	chr17:38589800-38598600	Weak transcription	NHDF-Ad	bronchial
5	chr17:38590000-38593400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr17:38590200-38593400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr17:38590200-38593600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr17:38590200-38599000	Weak transcription	Lung	lung
9	chr17:38590400-38593800	Weak transcription	Fetal Thymus	thymus
10	chr17:38590400-38597400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:38590400-38598600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:38590400-38598800	Weak transcription	Osteobl	bone
13	chr17:38590600-38593600	Weak transcription	Placenta	Placenta
14	chr17:38590600-38596600	Weak transcription	A549	lung
15	chr17:38590800-38593400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr17:38590800-38593600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:38591200-38593400	Weak transcription	Fetal Stomach	stomach
18	chr17:38592200-38593600	Weak transcription	Esophagus	oesophagus
19	chr17:38592600-38593400	Enhancers	Stomach Smooth Muscle	stomach
20	chr17:38592600-38594200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr17:38592600-38594200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:38592600-38594200	Enhancers	Rectal Smooth Muscle	rectum
23	chr17:38592600-38594400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:38592600-38594600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr17:38592800-38594200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr17:38592800-38594200	Enhancers	Colon Smooth Muscle	Colon
27	chr17:38592800-38594200	Enhancers	Fetal Muscle Leg	muscle
28	chr17:38592800-38594400	Enhancers	K562	blood
29	chr17:38593000-38594000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr17:38593000-38594000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr17:38593000-38594000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr17:38593000-38594000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr17:38593000-38594200	Enhancers	Left Ventricle	heart
34	chr17:38593000-38594200	Enhancers	Right Ventricle	heart
35	chr17:38593000-38594400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:38593200-38593600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr17:38593200-38593800	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr17:38593200-38594000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr17:38593200-38594000	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr17:38593200-38594000	Enhancers	Fetal Lung	lung
41	chr17:38593200-38594000	Enhancers	NHLF	lung
42	chr17:38593200-38594200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr17:38593200-38594200	Enhancers	Right Atrium	heart
44	chr17:38593200-38594200	Enhancers	Spleen	Spleen
45	chr17:38593200-38594200	Enhancers	HSMM	muscle
46	chr17:38593200-38594400	Enhancers	Adipose Nuclei	Adipose
47	chr17:38593200-38598800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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