Variant report

Variant	rs314319
Chromosome Location	chr7:100428994-100428995
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100427087..100431759-chr7:100432300..100436126,8	K562	blood:
2	chr7:100428650..100430263-chr7:100434365..100436126,2	K562	blood:
3	chr7:100428155..100429867-chr7:100486427..100488061,2	K562	blood:
4	chr7:100403150..100405833-chr7:100428578..100431786,3	K562	blood:

Variant related genes	Relation type
ENSG00000176125	Chromatin interaction
ENSG00000196411	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12531740	0.84[ASN][1000 genomes]
rs12537212	0.84[ASN][1000 genomes]
rs12670773	0.81[ASN][1000 genomes]
rs144173	0.86[ASN][1000 genomes]
rs2247445	0.88[ASN][1000 genomes]
rs2247447	0.88[ASN][1000 genomes]
rs2250818	0.88[ASN][1000 genomes]
rs2571606	0.88[ASN][1000 genomes]
rs2571607	0.88[ASN][1000 genomes]
rs2571608	0.87[ASN][1000 genomes]
rs2571609	0.84[ASN][1000 genomes]
rs314309	0.89[ASN][1000 genomes]
rs314310	0.89[ASN][1000 genomes]
rs314320	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs314322	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs314326	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs314337	0.81[EUR][1000 genomes]
rs314339	0.80[EUR][1000 genomes]
rs314345	0.83[EUR][1000 genomes]
rs314346	0.83[EUR][1000 genomes]
rs314359	0.81[ASN][1000 genomes]
rs314360	0.90[EUR][1000 genomes]
rs314361	0.90[EUR][1000 genomes]
rs314364	0.88[EUR][1000 genomes]
rs314365	0.89[EUR][1000 genomes]
rs314366	0.87[EUR][1000 genomes]
rs3857809	0.85[ASN][1000 genomes]
rs3890144	0.81[ASN][1000 genomes]
rs73413159	0.81[ASN][1000 genomes]
rs7785074	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
11	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
12	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv888800	chr7:100411278-100436446	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
15	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
16	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
17	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100426000-100429000	Enhancers	Liver	Liver
2	chr7:100426000-100429400	Weak transcription	A549	lung
3	chr7:100426000-100429800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:100426400-100429400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:100426400-100433400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:100426400-100433400	Weak transcription	Gastric	stomach
7	chr7:100426400-100433800	Weak transcription	Right Atrium	heart
8	chr7:100426600-100431600	Weak transcription	Spleen	Spleen
9	chr7:100426600-100433400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:100426600-100433400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:100426600-100433400	Weak transcription	Fetal Kidney	kidney
12	chr7:100427000-100433200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:100427000-100433400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:100427000-100433400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:100427200-100429200	Enhancers	HepG2	liver
16	chr7:100427200-100431800	Weak transcription	Right Ventricle	heart
17	chr7:100427200-100433400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:100427200-100433400	Weak transcription	Fetal Stomach	stomach
19	chr7:100427200-100433400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr7:100427200-100434600	Weak transcription	Ovary	ovary
21	chr7:100427400-100431600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:100427400-100433400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:100427400-100433400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:100427400-100433400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:100427400-100433400	Weak transcription	Left Ventricle	heart
26	chr7:100427400-100433600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:100427400-100433600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:100428200-100431800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:100428400-100429400	Enhancers	Duodenum Mucosa	Duodenum
30	chr7:100428400-100433200	Weak transcription	HUVEC	blood vessel
31	chr7:100428600-100429200	Enhancers	Fetal Intestine Small	intestine
32	chr7:100428600-100429600	Enhancers	Fetal Intestine Large	intestine
33	chr7:100428600-100430200	Enhancers	Stomach Mucosa	stomach
34	chr7:100428600-100431600	Weak transcription	K562	blood
35	chr7:100428800-100429800	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links