Variant report

Variant	rs3793342
Chromosome Location	chr7:150695195-150695196
allele	C/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	POLR2A	chr7:150694835-150695425	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150694261..150697660-chr7:150712751..150716037,3	MCF-7	breast:
2	chr7:150695075..150697082-chr7:150780811..150782403,2	MCF-7	breast:
3	chr7:150694065..150696658-chr7:150697415..150699759,2	MCF-7	breast:

Variant related genes	Relation type
NOS3	TF binding region
ENSG00000181652	Chromatin interaction
ENSG00000164867	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1800779	1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs1800781	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1800782	0.82[ASN][1000 genomes]
rs1800783	1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs2070744	0.90[ASN][1000 genomes]
rs2373962	0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs3730305	0.82[ASN][1000 genomes]
rs3793341	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807370	0.95[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs3918169	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3918174	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3918186	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4496877	0.82[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs6946415	0.85[ASN][1000 genomes]
rs6951150	0.82[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs6953274	0.85[ASN][1000 genomes]
rs73167652	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
4	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
11	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
12	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
14	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
15	nsv889470	chr7:150667210-150696111	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150686200-150698000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:150688800-150697200	Weak transcription	Pancreas	Pancrea
3	chr7:150692200-150700800	Weak transcription	Gastric	stomach
4	chr7:150692200-150705000	Weak transcription	Ovary	ovary
5	chr7:150692400-150697000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr7:150692400-150698400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:150692400-150704200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:150692400-150704400	Weak transcription	Right Atrium	heart
9	chr7:150692600-150697800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr7:150692600-150698200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr7:150692600-150698200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr7:150692600-150704000	Weak transcription	Left Ventricle	heart
13	chr7:150693200-150697000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:150693200-150697600	Enhancers	Primary T cells from cord blood	blood
15	chr7:150693200-150697600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr7:150693200-150697800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr7:150693400-150695400	Bivalent Enhancer	Fetal Thymus	thymus
18	chr7:150693400-150697800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr7:150693400-150697800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:150693800-150696600	Genic enhancers	Spleen	Spleen
21	chr7:150694000-150695200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:150694000-150696800	Genic enhancers	Placenta	Placenta
23	chr7:150694000-150697000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr7:150694200-150699000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:150694200-150699600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:150694400-150704400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:150694600-150696200	Weak transcription	Lung	lung
28	chr7:150694600-150700200	Weak transcription	Fetal Brain Female	brain
29	chr7:150694600-150705600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:150694800-150695400	Strong transcription	Fetal Stomach	stomach
31	chr7:150694800-150696200	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:150694800-150697800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:150694800-150704800	Weak transcription	Fetal Lung	lung
34	chr7:150694800-150705200	Weak transcription	Fetal Intestine Small	intestine
35	chr7:150695000-150695200	Enhancers	Right Ventricle	heart
36	chr7:150695000-150695400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:150695000-150695600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:150695000-150695600	Strong transcription	Adipose Nuclei	Adipose
39	chr7:150695000-150696000	Strong transcription	HUVEC	blood vessel
40	chr7:150695000-150696400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:150695000-150697400	Weak transcription	K562	blood
42	chr7:150695000-150705400	Weak transcription	Fetal Intestine Large	intestine

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