Variant report

Variant	rs3779196
Chromosome Location	chr7:97990106-97990107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97989871..97990674-chr7:98030186..98030868,4	MCF-7	breast:
2	chr7:97988695..97992835-chr7:98029138..98031844,3	K562	blood:

Variant related genes	Relation type
ENSG00000006453	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10953259	0.80[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10953260	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12704986	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13310668	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1688606	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1688607	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17169479	0.84[CHB][hapmap]
rs3779195	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4268041	0.90[ASW][hapmap];0.93[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4506131	0.84[CHB][hapmap]
rs6965424	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967728	0.89[EUR][1000 genomes]
rs7015	0.83[EUR][1000 genomes]
rs73141637	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv888766	chr7:97975542-98123880	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97977200-98010200	Weak transcription	GM12878-XiMat	blood
2	chr7:97982600-97995600	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:97984400-97991000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:97984600-97991800	Weak transcription	Gastric	stomach
5	chr7:97984600-97995400	Weak transcription	Lung	lung
6	chr7:97984800-97992600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:97984800-98000200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:97984800-98002200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:97985200-97990800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:97985600-97991200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:97987200-97993600	Weak transcription	Pancreas	Pancrea
12	chr7:97987400-97995200	Weak transcription	NH-A	brain
13	chr7:97987600-97995200	Weak transcription	HUVEC	blood vessel
14	chr7:97988000-97990600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:97988200-97990800	Enhancers	Fetal Intestine Large	intestine
16	chr7:97988200-97991200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:97988600-97990400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:97988600-97995600	Weak transcription	Spleen	Spleen
19	chr7:97988800-97990400	Enhancers	Placenta	Placenta
20	chr7:97988800-97991000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:97989400-97990400	Enhancers	Liver	Liver
22	chr7:97989400-97991000	Genic enhancers	Stomach Mucosa	stomach
23	chr7:97989400-97991200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr7:97989400-97991200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:97989400-97992000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:97989600-97990200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr7:97989600-97990200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr7:97989600-97990200	Enhancers	HepG2	liver
29	chr7:97989600-97990400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:97989600-97990400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:97989600-97990400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:97989600-97990400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:97989600-97990400	Transcr. at gene 5' and 3'	A549	lung
34	chr7:97989600-97990400	Flanking Active TSS	K562	blood
35	chr7:97989600-97990800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr7:97989600-97992000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr7:97989600-97992000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:97989600-97992200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr7:97989600-97994200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:97989600-97995000	Weak transcription	Colonic Mucosa	Colon
41	chr7:97989800-97990200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:97989800-97990400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:97989800-97990400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:97989800-97990400	Flanking Active TSS	Hela-S3	cervix
45	chr7:97989800-97990400	Genic enhancers	NHEK	skin
46	chr7:97989800-97991000	Enhancers	Fetal Intestine Small	intestine
47	chr7:97989800-97992000	Strong transcription	HMEC	breast
48	chr7:97989800-97993200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr7:97990000-97990200	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr7:97990000-97990400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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