Variant report

Variant	rs17680507
Chromosome Location	chr17:38568131-38568132
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38567647..38569225-chr17:38572568..38575239,2	MCF-7	breast:
2	chr17:38535520..38539841-chr17:38568044..38570413,3	K562	blood:
3	chr17:38554880..38561530-chr17:38564891..38570099,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131747	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10305288	1.00[AFR][1000 genomes]
rs10305296	1.00[AFR][1000 genomes]
rs10305303	1.00[AFR][1000 genomes]
rs11540720	0.92[EUR][1000 genomes]
rs12103533	0.92[EUR][1000 genomes]
rs15685	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16965669	0.92[EUR][1000 genomes]
rs16965734	0.92[EUR][1000 genomes]
rs16965736	0.92[EUR][1000 genomes]
rs16965748	0.92[EUR][1000 genomes]
rs16965774	0.92[EUR][1000 genomes]
rs16965778	0.92[EUR][1000 genomes]
rs17557495	1.00[AFR][1000 genomes]
rs17557879	1.00[AFR][1000 genomes]
rs17616879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17617263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17618397	1.00[AFR][1000 genomes]
rs17678959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17678990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17679038	1.00[AFR][1000 genomes]
rs17679086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17679361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17680704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2012667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2229773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28362320	0.92[EUR][1000 genomes]
rs28362321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33998939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34270904	0.92[EUR][1000 genomes]
rs34300454	0.92[EUR][1000 genomes]
rs35783632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35898909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41283417	0.92[EUR][1000 genomes]
rs41283423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4134993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4134998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45612441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7214783	0.85[EUR][1000 genomes]
rs72819623	1.00[AFR][1000 genomes]
rs72819624	1.00[AFR][1000 genomes]
rs72819628	1.00[AFR][1000 genomes]
rs72819630	1.00[AFR][1000 genomes]
rs72819632	1.00[AFR][1000 genomes]
rs72819633	1.00[AFR][1000 genomes]
rs72819651	1.00[AFR][1000 genomes]
rs8067519	0.92[EUR][1000 genomes]
rs8071687	0.92[EUR][1000 genomes]
rs9889905	0.92[EUR][1000 genomes]
rs9891944	1.00[EUR][1000 genomes]
rs9894364	0.92[EUR][1000 genomes]
rs9894807	0.92[EUR][1000 genomes]
rs9898500	0.92[EUR][1000 genomes]
rs9903293	0.92[EUR][1000 genomes]
rs9909777	0.92[EUR][1000 genomes]
rs9909811	0.92[EUR][1000 genomes]
rs9910373	0.92[EUR][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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38540200-38571400	Strong transcription	Fetal Thymus	thymus
2	chr17:38542200-38571600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr17:38542600-38571800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:38543200-38571000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:38543400-38571000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr17:38543400-38571400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:38543400-38571800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr17:38544000-38569800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:38544000-38570200	Strong transcription	HepG2	liver
10	chr17:38544000-38571800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:38544400-38573200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:38545200-38573200	Weak transcription	Gastric	stomach
13	chr17:38546000-38573600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr17:38546400-38572200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:38546400-38572800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr17:38546400-38573200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr17:38548200-38572000	Weak transcription	Brain Germinal Matrix	brain
18	chr17:38548400-38572800	Weak transcription	Primary B cells from cord blood	blood
19	chr17:38549800-38573000	Weak transcription	Fetal Intestine Large	intestine
20	chr17:38551000-38573000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr17:38552200-38573400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:38554200-38570400	Strong transcription	HMEC	breast
23	chr17:38554600-38569600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr17:38555600-38571000	Strong transcription	HUVEC	blood vessel
25	chr17:38556000-38568600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:38557400-38572800	Weak transcription	Fetal Kidney	kidney
27	chr17:38557600-38571800	Weak transcription	Fetal Brain Female	brain
28	chr17:38557800-38572800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr17:38559000-38571600	Weak transcription	NHLF	lung
30	chr17:38559200-38573000	Weak transcription	Primary T cells from cord blood	blood
31	chr17:38559200-38573200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr17:38559400-38570400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:38559400-38571400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:38559400-38573200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr17:38559800-38572800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr17:38560400-38570200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr17:38562200-38568200	Strong transcription	NHDF-Ad	bronchial
38	chr17:38562200-38569400	Strong transcription	Hela-S3	cervix
39	chr17:38562200-38569600	Strong transcription	Osteobl	bone
40	chr17:38562400-38569200	Strong transcription	GM12878-XiMat	blood
41	chr17:38562400-38569600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr17:38562400-38570000	Weak transcription	Fetal Intestine Small	intestine
43	chr17:38562600-38571600	Strong transcription	K562	blood
44	chr17:38562800-38569200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr17:38562800-38571600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:38563200-38572600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr17:38564600-38569600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr17:38565800-38569200	Strong transcription	Placenta	Placenta
49	chr17:38565800-38573000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr17:38566000-38568200	Genic enhancers	HUES64 Cell Line	embryonic stem cell

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