Variant report

Variant	rs4729433
Chromosome Location	chr7:97996254-97996255
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97985772..97988094-chr7:97995207..97997337,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2088171	1.00[AMR][1000 genomes]
rs2172885	1.00[AMR][1000 genomes]
rs4509254	1.00[AMR][1000 genomes]
rs4729411	1.00[AMR][1000 genomes]
rs6465656	1.00[AMR][1000 genomes]
rs6465659	1.00[AMR][1000 genomes]
rs6971967	1.00[AMR][1000 genomes]
rs73406084	1.00[AMR][1000 genomes]
rs7804326	1.00[AMR][1000 genomes]
rs903593	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	nsv5860	chr7:97995939-98028100	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 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	chr7:97977200-98010200	Weak transcription	GM12878-XiMat	blood
2	chr7:97984800-98000200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:97984800-98002200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:97990000-97998400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:97990400-98017200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:97990400-98028000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:97990600-98010400	Weak transcription	HepG2	liver
8	chr7:97991000-97999200	Weak transcription	Hela-S3	cervix
9	chr7:97991000-98002200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:97992000-97998400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:97992000-98000200	Weak transcription	HMEC	breast
12	chr7:97992000-98029400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:97992200-97999200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:97992800-98017400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:97993200-97998800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:97993800-98005400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:97994200-97998200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:97994600-98000600	Enhancers	Stomach Mucosa	stomach
19	chr7:97994800-97996400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:97995000-97997800	Weak transcription	Gastric	stomach
21	chr7:97995200-97996400	Strong transcription	Fetal Intestine Small	intestine
22	chr7:97995400-97996400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:97995400-97996400	Strong transcription	A549	lung
24	chr7:97995600-97999400	Weak transcription	Osteobl	bone
25	chr7:97995600-98002400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:97995600-98002400	Weak transcription	NH-A	brain
27	chr7:97995800-97996800	Strong transcription	NHEK	skin
28	chr7:97995800-97998600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:97995800-98000200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:97995800-98000200	Weak transcription	Pancreas	Pancrea
31	chr7:97995800-98028200	Weak transcription	Esophagus	oesophagus
32	chr7:97996000-97996400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr7:97996000-97998200	Weak transcription	HUVEC	blood vessel
34	chr7:97996000-98000200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:97996200-97997800	Weak transcription	Fetal Muscle Leg	muscle
36	chr7:97996200-97998000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:97996200-97998200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:97996200-97999200	Weak transcription	Adipose Nuclei	Adipose
39	chr7:97996200-97999400	Weak transcription	Lung	lung
40	chr7:97996200-98000200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:97996200-98001000	Weak transcription	Placenta	Placenta
42	chr7:97996200-98002800	Weak transcription	Rectal Mucosa Donor 29	rectum

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