Variant report

Variant	rs632224
Chromosome Location	chr17:38592990-38592991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38587923..38591705-chr17:38591977..38594441,3	MCF-7	breast:
2	chr17:38592886..38594691-chr17:38595993..38598092,3	MCF-7	breast:
3	chr17:38572288..38574196-chr17:38590587..38593029,2	K562	blood:

Variant related genes	Relation type
ENSG00000240125	Chromatin interaction
ENSG00000131747	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1009570	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10852940	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11078945	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11657212	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1868758	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2015561	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35103116	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56394376	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs584438	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs584828	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs598892	0.93[EUR][1000 genomes];0.97[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:41 , 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	chr17:38589800-38593200	Weak transcription	Fetal Lung	lung
5	chr17:38589800-38598600	Weak transcription	NHDF-Ad	bronchial
6	chr17:38590000-38593200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr17:38590000-38593400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr17:38590200-38593200	Weak transcription	Right Atrium	heart
9	chr17:38590200-38593400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:38590200-38593600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr17:38590200-38599000	Weak transcription	Lung	lung
12	chr17:38590400-38593200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr17:38590400-38593200	Weak transcription	Spleen	Spleen
14	chr17:38590400-38593800	Weak transcription	Fetal Thymus	thymus
15	chr17:38590400-38597400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr17:38590400-38598600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:38590400-38598800	Weak transcription	Osteobl	bone
18	chr17:38590600-38593000	Weak transcription	Left Ventricle	heart
19	chr17:38590600-38593000	Weak transcription	Right Ventricle	heart
20	chr17:38590600-38593200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr17:38590600-38593200	Weak transcription	NHLF	lung
22	chr17:38590600-38593600	Weak transcription	Placenta	Placenta
23	chr17:38590600-38596600	Weak transcription	A549	lung
24	chr17:38590800-38593000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:38590800-38593200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:38590800-38593400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr17:38590800-38593600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:38591200-38593400	Weak transcription	Fetal Stomach	stomach
29	chr17:38592200-38593600	Weak transcription	Esophagus	oesophagus
30	chr17:38592600-38593200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr17:38592600-38593400	Enhancers	Stomach Smooth Muscle	stomach
32	chr17:38592600-38594200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr17:38592600-38594200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr17:38592600-38594200	Enhancers	Rectal Smooth Muscle	rectum
35	chr17:38592600-38594400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr17:38592600-38594600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr17:38592800-38593200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr17:38592800-38594200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr17:38592800-38594200	Enhancers	Colon Smooth Muscle	Colon
40	chr17:38592800-38594200	Enhancers	Fetal Muscle Leg	muscle
41	chr17:38592800-38594400	Enhancers	K562	blood

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