Variant report

Variant	rs17171603
Chromosome Location	chr7:39615376-39615377
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	chr7:39610504..39612853-chr7:39613535..39615540,2	K562	blood:
2	chr7:39609139..39613691-chr7:39613860..39617111,6	K562	blood:

Variant related genes	Relation type
ENSG00000241127	Chromatin interaction
ENSG00000236015	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10245247	0.80[ASN][1000 genomes]
rs10258946	0.84[ASN][1000 genomes]
rs10266149	0.84[ASN][1000 genomes]
rs10486798	0.82[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12111908	0.84[ASN][1000 genomes]
rs17620556	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs17687994	0.94[EUR][1000 genomes]
rs17713754	0.92[ASN][1000 genomes]
rs17713951	0.96[ASN][1000 genomes]
rs17714049	0.84[ASN][1000 genomes]
rs17770594	1.00[ASN][1000 genomes]
rs17770612	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17770625	1.00[ASN][1000 genomes]
rs1989533	0.82[ASN][1000 genomes]
rs2329455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329461	0.84[ASN][1000 genomes]
rs2329462	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2329463	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs4723881	0.84[ASN][1000 genomes]
rs4723882	0.91[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs4723883	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs4723884	0.86[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs4723885	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs58299139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59071947	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61493712	0.84[ASN][1000 genomes]
rs6462933	0.80[AFR][1000 genomes]
rs6948276	0.81[YRI][hapmap];0.80[AFR][1000 genomes]
rs6968742	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6980317	0.82[YRI][hapmap];0.80[AFR][1000 genomes]
rs73375670	0.80[AFR][1000 genomes]
rs73375695	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777434	0.86[LWK][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes]
rs7785964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786253	0.80[AFR][1000 genomes]
rs7796063	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7802552	0.80[AFR][1000 genomes]
rs9768664	0.86[LWK][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes]
rs9770659	0.80[AFR][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	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39606600-39616200	Weak transcription	Spleen	Spleen
2	chr7:39606600-39616600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:39606600-39616800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:39606600-39618600	Weak transcription	Gastric	stomach
5	chr7:39606600-39619800	Weak transcription	Lung	lung
6	chr7:39607000-39616800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:39607000-39618800	Weak transcription	Right Ventricle	heart
8	chr7:39607000-39619800	Weak transcription	Ovary	ovary
9	chr7:39607000-39623800	Weak transcription	Pancreas	Pancrea
10	chr7:39607000-39631400	Weak transcription	Aorta	Aorta
11	chr7:39607200-39615600	Weak transcription	Psoas Muscle	Psoas
12	chr7:39607200-39616000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:39607200-39617200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:39607200-39619200	Weak transcription	Colonic Mucosa	Colon
15	chr7:39607200-39620000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:39607200-39620200	Weak transcription	Small Intestine	intestine
17	chr7:39607200-39620200	Weak transcription	Stomach Mucosa	stomach
18	chr7:39607200-39620200	Weak transcription	Thymus	Thymus
19	chr7:39607200-39621000	Weak transcription	Right Atrium	heart
20	chr7:39607200-39623200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:39607200-39628800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:39607200-39629000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:39607400-39616000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:39607600-39615400	Weak transcription	Fetal Brain Male	brain
25	chr7:39607600-39615600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:39607600-39615800	Weak transcription	HSMMtube	muscle
27	chr7:39607600-39618000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:39607600-39618000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:39607600-39619000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:39607600-39620200	Weak transcription	Brain Substantia Nigra	brain
31	chr7:39607600-39620200	Weak transcription	Fetal Heart	heart
32	chr7:39607600-39628600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:39607600-39629400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:39607800-39616000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:39607800-39623400	Weak transcription	NHEK	skin
36	chr7:39608600-39619000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:39608800-39615400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:39609000-39616200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:39609000-39618400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:39609200-39615800	Strong transcription	Primary B cells from cord blood	blood
41	chr7:39609200-39616400	Strong transcription	Adipose Nuclei	Adipose
42	chr7:39609400-39619000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:39609600-39620000	Weak transcription	K562	blood
44	chr7:39609800-39620000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:39609800-39622200	Weak transcription	Esophagus	oesophagus
46	chr7:39610000-39617000	Strong transcription	Fetal Lung	lung
47	chr7:39610400-39620800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:39610800-39617000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:39610800-39620400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:39610800-39628800	Weak transcription	GM12878-XiMat	blood

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