Variant report

Variant	rs38739
Chromosome Location	chr7:140710848-140710849
allele	A/G
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	MAFK	chr7:140710707-140710938	HepG2	liver:	n/a	chr7:140710852-140710866 chr7:140710854-140710865 chr7:140710853-140710864 chr7:140710853-140710869 chr7:140710853-140710864

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140395386..140400852-chr7:140710628..140716984,11	MCF-7	breast:
2	chr7:140701629..140704089-chr7:140709964..140711981,2	MCF-7	breast:

Variant related genes	Relation type
MRPS33	TF binding region
ENSG00000240889	Chromatin interaction
ENSG00000090266	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10215245	0.93[ASN][1000 genomes]
rs10240888	0.83[EUR][1000 genomes]
rs1044927	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs10488098	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs1089264	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10952364	1.00[CHB][hapmap]
rs12703284	0.84[ASN][1000 genomes]
rs13234490	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs13236704	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs13438609	0.80[EUR][1000 genomes]
rs1476816	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs1533933	0.93[ASN][1000 genomes]
rs17622717	0.90[CEU][hapmap];0.82[JPT][hapmap]
rs17695341	0.90[CEU][hapmap];0.82[JPT][hapmap]
rs17695623	0.90[CEU][hapmap];0.82[JPT][hapmap]
rs17695707	0.90[CEU][hapmap]
rs17695995	0.90[CEU][hapmap];0.82[JPT][hapmap]
rs1860720	0.93[ASN][1000 genomes]
rs1961288	0.84[ASN][1000 genomes]
rs2079827	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2079978	0.93[ASN][1000 genomes]
rs246739	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2688430	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805116	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs38715	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38717	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38718	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs38719	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs38720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38722	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38723	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs38726	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38730	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs38731	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs38734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs38736	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs38740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4726225	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs488795	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs490810	0.84[ASN][1000 genomes]
rs512177	0.84[ASN][1000 genomes]
rs512509	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs528957	0.86[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs533441	0.84[ASN][1000 genomes]
rs544081	0.86[ASN][1000 genomes]
rs545121	0.84[ASN][1000 genomes]
rs557962	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs569584	0.86[ASN][1000 genomes]
rs579518	0.84[ASN][1000 genomes]
rs58901822	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62485391	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62485451	0.83[EUR][1000 genomes]
rs62485452	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62485453	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6464217	1.00[CHB][hapmap]
rs6464260	0.88[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs6464284	0.84[ASN][1000 genomes]
rs6662	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6967214	0.91[ASN][1000 genomes]
rs6971577	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs7792447	0.93[ASN][1000 genomes]
rs7801518	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs7810757	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs801117	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs801121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs801127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs801155	0.86[ASN][1000 genomes]
rs801159	0.84[ASN][1000 genomes]
rs9274	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1026448	chr7:140636599-140716829	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140698600-140713000	Weak transcription	Psoas Muscle	Psoas
2	chr7:140699600-140713800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:140701400-140713400	Weak transcription	NHLF	lung
4	chr7:140702800-140713200	Weak transcription	HSMMtube	muscle
5	chr7:140703200-140713800	Weak transcription	Stomach Mucosa	stomach
6	chr7:140703400-140713800	Weak transcription	Gastric	stomach
7	chr7:140703600-140713800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:140703600-140713800	Weak transcription	Lung	lung
9	chr7:140704000-140713800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:140704400-140711400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:140704800-140711000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:140705000-140711000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:140705000-140712200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:140705000-140713600	Weak transcription	NH-A	brain
15	chr7:140705200-140711400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:140705200-140713200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:140705200-140713200	Weak transcription	Brain Germinal Matrix	brain
18	chr7:140705200-140713800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:140705400-140711000	Strong transcription	NHEK	skin
20	chr7:140705400-140713000	Weak transcription	Dnd41	blood
21	chr7:140705400-140713600	Weak transcription	HUVEC	blood vessel
22	chr7:140705600-140711000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:140705800-140711000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:140705800-140711000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:140706800-140712400	Weak transcription	NHDF-Ad	bronchial
26	chr7:140706800-140713600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:140707200-140711600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:140707200-140713200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:140707200-140713800	Weak transcription	Small Intestine	intestine
30	chr7:140707400-140713600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:140707400-140713600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr7:140707600-140713400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr7:140707600-140713600	Weak transcription	Fetal Brain Male	brain
34	chr7:140707600-140713800	Weak transcription	Aorta	Aorta
35	chr7:140707600-140713800	Weak transcription	Spleen	Spleen
36	chr7:140707800-140712200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:140707800-140713000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:140707800-140713200	Weak transcription	Thymus	Thymus
39	chr7:140707800-140713800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:140707800-140713800	Weak transcription	Esophagus	oesophagus
41	chr7:140707800-140713800	Weak transcription	Pancreas	Pancrea
42	chr7:140707800-140714000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:140708000-140712600	Weak transcription	A549	lung
44	chr7:140708000-140713800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:140708200-140713400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:140708400-140711200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr7:140708400-140711600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:140708400-140711600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:140708400-140711600	Weak transcription	HepG2	liver
50	chr7:140708400-140713200	Weak transcription	Brain Substantia Nigra	brain

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