Variant report

Variant	rs10512481
Chromosome Location	chr17:38258246-38258247
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr17:38254224-38258534	A549	lung:	n/a	chr17:38255690-38255700 chr17:38255686-38255701 chr17:38255409-38255418 chr17:38255690-38255699 chr17:38256926-38256935 chr17:38255408-38255419 chr17:38257669-38257679 chr17:38255447-38255457 chr17:38255410-38255417 chr17:38255300-38255310 chr17:38255692-38255701 chr17:38255409-38255419 chr17:38257300-38257309 chr17:38255409-38255418 chr17:38255691-38255698 chr17:38255689-38255700
2	POLR2A	chr17:38258217-38258379	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38252517..38259251-chr17:38276179..38282890,16	MCF-7	breast:
2	chr17:38255433..38258713-chr17:38276171..38280451,4	K562	blood:
3	chr17:38253967..38258330-chr17:38333170..38336526,4	MCF-7	breast:
4	chr17:38257297..38260164-chr17:38470426..38472629,2	MCF-7	breast:
5	chr17:38223608..38228220-chr17:38255265..38258726,4	MCF-7	breast:
6	chr17:38219115..38220777-chr17:38255846..38258790,2	MCF-7	breast:
7	chr17:38255988..38258755-chr17:38294920..38298049,5	MCF-7	breast:

Variant related genes	Relation type
NR1D1	TF binding region
ENSG00000188895	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000126351	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16965660	1.00[CEU][hapmap]
rs17616365	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap]
rs17616879	1.00[MEX][hapmap]
rs17678817	1.00[MEX][hapmap]
rs17678959	1.00[MEX][hapmap]
rs17679086	1.00[MEX][hapmap]
rs4135021	1.00[MEX][hapmap]
rs57188376	0.82[AFR][1000 genomes]
rs57795122	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58539907	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59368120	0.89[AFR][1000 genomes]
rs61093245	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv520636	chr17:38254689-38264197	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
4	nsv528369	chr17:38256693-38289003	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38256800-38258800	Enhancers	Spleen	Spleen
2	chr17:38256800-38269800	Weak transcription	Aorta	Aorta
3	chr17:38257000-38258600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr17:38257000-38259200	Weak transcription	Gastric	stomach
5	chr17:38257000-38261800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr17:38257200-38258400	Flanking Active TSS	Hela-S3	cervix
7	chr17:38257400-38258400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:38257400-38258400	Enhancers	Small Intestine	intestine
9	chr17:38257400-38258400	Flanking Active TSS	HepG2	liver
10	chr17:38257400-38258600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr17:38257400-38258600	Enhancers	Esophagus	oesophagus
12	chr17:38257400-38258600	Enhancers	Fetal Kidney	kidney
13	chr17:38257400-38259000	Weak transcription	Fetal Brain Male	brain
14	chr17:38257400-38259200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:38257400-38262000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr17:38257400-38267200	Enhancers	Fetal Muscle Trunk	muscle
17	chr17:38257400-38267200	Enhancers	Fetal Muscle Leg	muscle
18	chr17:38257400-38267400	Enhancers	Fetal Intestine Small	intestine
19	chr17:38257400-38267800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr17:38257400-38269600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr17:38257400-38269600	Enhancers	Fetal Thymus	thymus
22	chr17:38257600-38258400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr17:38257600-38258400	Enhancers	Brain Angular Gyrus	brain
24	chr17:38257600-38258600	Enhancers	Left Ventricle	heart
25	chr17:38257600-38258600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr17:38257600-38258600	Enhancers	Right Ventricle	heart
27	chr17:38257600-38259000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr17:38257600-38259200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:38257600-38259400	Weak transcription	Ovary	ovary
30	chr17:38257600-38260200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:38257600-38260800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr17:38257600-38261400	Enhancers	Pancreas	Pancrea
33	chr17:38257600-38262000	Weak transcription	Brain Germinal Matrix	brain
34	chr17:38257600-38262200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr17:38257600-38262800	Enhancers	Fetal Lung	lung
36	chr17:38257600-38263200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr17:38257600-38263600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr17:38257600-38263600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr17:38257600-38263800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr17:38257600-38264600	Enhancers	Psoas Muscle	Psoas
41	chr17:38257600-38265800	Enhancers	Thymus	Thymus
42	chr17:38257600-38267200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr17:38257600-38267400	Enhancers	Primary T cells from cord blood	blood
44	chr17:38257600-38267600	Enhancers	Primary T cells fromperipheralblood	blood
45	chr17:38257600-38269600	Enhancers	Fetal Intestine Large	intestine
46	chr17:38257600-38269600	Enhancers	Placenta	Placenta
47	chr17:38257800-38258400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr17:38257800-38258400	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr17:38257800-38258400	Enhancers	NHLF	lung
50	chr17:38257800-38258600	Enhancers	Rectal Mucosa Donor 31	rectum

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