Variant report

Variant	rs9913632
Chromosome Location	chr17:38177432-38177433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38177288-38178792	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr17:38177199-38178865	U87	brain:	n/a	n/a
3	TCF12	chr17:38177365-38178384	A549	lung:	n/a	chr17:38177945-38177955
4	POLR2A	chr17:38177199-38178884	U87	brain:	n/a	n/a
5	POLR2A	chr17:38177347-38178768	U87	brain:	n/a	n/a
6	POLR2A	chr17:38177321-38178723	HUVEC	blood vessel:	n/a	n/a
7	MAZ	chr17:38177360-38178414	IMR90	lung:	n/a	n/a
8	POLR2A	chr17:38177292-38178768	U87	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38175295..38180645-chr17:38181007..38185256,8	MCF-7	breast:
2	chr17:38135295..38137617-chr17:38176453..38178456,2	K562	blood:
3	chr17:38174715..38177590-chr17:38209751..38212777,3	K562	blood:
4	chr17:38175071..38177613-chr17:38178105..38180812,3	MCF-7	breast:
5	chr17:38174842..38178903-chr17:38208625..38211251,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NR1D1-3	chr17:38177426-38177667	NONHSAT053507

No data

Variant related genes	Relation type
MED24	TF binding region
ENSG00000108344	Chromatin interaction
ENSG00000238793	Chromatin interaction
ENSG00000008838	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1042657	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11652139	1.00[YRI][hapmap]
rs12938879	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2071369	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2071370	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2227324	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2227338	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2302775	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2302778	0.95[ASN][1000 genomes]
rs3826330	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3859190	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3916061	0.85[EUR][1000 genomes]
rs3934886	0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs4795411	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4795417	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4795421	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6503532	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6503534	0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs7503939	0.95[ASN][1000 genomes]
rs8068253	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8070452	0.81[ASN][1000 genomes]
rs921651	0.86[CHB][hapmap]
rs9748108	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9899955	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9900199	0.84[EUR][1000 genomes]
rs9903987	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38166800-38178200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr17:38166800-38181600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:38170000-38178800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr17:38170400-38177600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr17:38170400-38181600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr17:38171400-38186000	Weak transcription	Small Intestine	intestine
7	chr17:38172400-38178400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr17:38173000-38179600	Strong transcription	Fetal Intestine Small	intestine
9	chr17:38173000-38181400	Weak transcription	Fetal Kidney	kidney
10	chr17:38173400-38183800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:38173400-38192800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr17:38173600-38180200	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr17:38173600-38180400	Genic enhancers	NHLF	lung
14	chr17:38173600-38182000	Strong transcription	Thymus	Thymus
15	chr17:38173800-38179400	Strong transcription	Fetal Intestine Large	intestine
16	chr17:38173800-38179800	Genic enhancers	Spleen	Spleen
17	chr17:38173800-38180600	Strong transcription	Brain Anterior Caudate	brain
18	chr17:38173800-38181400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr17:38173800-38181800	Strong transcription	Primary T cells from cord blood	blood
20	chr17:38173800-38182400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr17:38174000-38178200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr17:38174000-38192600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr17:38174000-38193800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:38174200-38179600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:38174200-38180400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr17:38174200-38180800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr17:38174200-38183200	Strong transcription	Placenta	Placenta
28	chr17:38174200-38183400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:38174200-38183400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:38174200-38187400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:38174400-38179200	Strong transcription	Pancreas	Pancrea
32	chr17:38174400-38179800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:38174400-38183200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr17:38174400-38193200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr17:38174600-38178000	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr17:38174600-38180400	Genic enhancers	Fetal Muscle Leg	muscle
37	chr17:38174600-38181400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr17:38174600-38181800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr17:38174600-38182000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr17:38174800-38181400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr17:38174800-38192600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr17:38175000-38180600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr17:38175000-38193800	Strong transcription	HepG2	liver
44	chr17:38175200-38181600	Strong transcription	Fetal Thymus	thymus
45	chr17:38175200-38182800	Strong transcription	Brain Angular Gyrus	brain
46	chr17:38175200-38192600	Strong transcription	Fetal Brain Female	brain
47	chr17:38175200-38193200	Strong transcription	Dnd41	blood
48	chr17:38175400-38177600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr17:38175400-38179800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr17:38175400-38180200	Genic enhancers	Skeletal Muscle Male	skeletal muscle

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