Variant report

Variant	rs6714710
Chromosome Location	chr2:98345086-98345087
allele	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	MAX	chr2:98344889-98345127	K562	blood:	n/a	chr2:98345003-98345014 chr2:98345003-98345013 chr2:98344999-98345018 chr2:98345003-98345014
2	MYC	chr2:98344590-98345191	MCF10A-Er-Src	breast:	n/a	chr2:98345003-98345014 chr2:98344843-98344852 chr2:98344844-98344853 chr2:98345003-98345013 chr2:98344999-98345018 chr2:98345003-98345014
3	FOSL2	chr2:98344677-98345107	MCF-7	breast:	n/a	chr2:98344843-98344853 chr2:98344844-98344852 chr2:98344845-98344856 chr2:98344842-98344854 chr2:98344844-98344851 chr2:98344843-98344852
4	POLR2A	chr2:98344509-98345088	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr2:98344724-98345133	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr2:98344634-98345119	MCF10A-Er-Src	breast:	n/a	chr2:98345003-98345014 chr2:98344843-98344852 chr2:98344844-98344853 chr2:98345003-98345013 chr2:98344999-98345018 chr2:98345003-98345014
7	FOS	chr2:98344634-98345092	MCF10A-Er-Src	breast:	n/a	chr2:98344843-98344853 chr2:98344844-98344852 chr2:98344845-98344856 chr2:98344842-98344854 chr2:98344844-98344851 chr2:98344843-98344852

No.	Distal block	Cell Line	Cell type
1	chr2:98336485..98339120-chr2:98342439..98345883,3	K562	blood:
2	chr2:98343226..98345412-chr2:98346689..98348407,3	K562	blood:
3	chr2:98329506..98332077-chr2:98344010..98346831,2	K562	blood:

Variant related genes	Relation type
ZAP70	TF binding region
ENSG00000115085	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11691641	0.85[CEU][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13002912	0.92[CEU][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.93[EUR][1000 genomes]
rs2084177	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2121272	0.88[EUR][1000 genomes]
rs34747246	0.88[EUR][1000 genomes]
rs62157588	0.80[EUR][1000 genomes]
rs6543040	0.85[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs6724539	0.92[EUR][1000 genomes]

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	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv10104	chr2:98340272-98345152	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6714710	LOC440419	trans	cerebellum	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98336000-98346000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
2	chr2:98336200-98345600	Genic enhancers	Primary T cells fromperipheralblood	blood
3	chr2:98336200-98345800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr2:98336200-98351200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:98336400-98346000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
6	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
7	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:98337400-98346600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:98337800-98357400	Strong transcription	Dnd41	blood
12	chr2:98338800-98358800	Strong transcription	Thymus	Thymus
13	chr2:98339200-98345800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:98339600-98357200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:98340600-98346600	Weak transcription	Esophagus	oesophagus
16	chr2:98341000-98354800	Weak transcription	Gastric	stomach
17	chr2:98341200-98345800	Enhancers	Fetal Muscle Leg	muscle
18	chr2:98341800-98345800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:98341800-98348000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:98342000-98345600	Enhancers	Fetal Muscle Trunk	muscle
21	chr2:98342000-98345800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:98342000-98346400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:98342000-98347200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr2:98342200-98345600	Enhancers	Fetal Stomach	stomach
25	chr2:98342200-98345600	Enhancers	Left Ventricle	heart
26	chr2:98342400-98346600	Weak transcription	Spleen	Spleen
27	chr2:98342600-98357200	Strong transcription	Primary T cells from cord blood	blood
28	chr2:98342800-98345200	Enhancers	Placenta	Placenta
29	chr2:98343600-98345200	Enhancers	NHDF-Ad	bronchial
30	chr2:98343600-98357200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:98343800-98345200	Enhancers	HSMM	muscle
32	chr2:98344200-98345200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:98344200-98345400	Enhancers	HMEC	breast
34	chr2:98344600-98345200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr2:98344600-98345200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:98344600-98345200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:98344600-98345200	Enhancers	Brain Hippocampus Middle	brain
38	chr2:98344600-98345200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:98344600-98345200	Enhancers	Brain Substantia Nigra	brain
40	chr2:98344600-98345200	Bivalent Enhancer	HepG2	liver
41	chr2:98344600-98346400	Strong transcription	Fetal Thymus	thymus
42	chr2:98344800-98345200	Enhancers	NHEK	skin
43	chr2:98344800-98356400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:98344800-98356800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:98345000-98345200	Enhancers	HSMMtube	muscle
46	chr2:98345000-98346200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:98345000-98347000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:98345000-98347600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:98345000-98366400	Weak transcription	Duodenum Mucosa	Duodenum

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