Variant report

Variant	rs6814321
Chromosome Location	chr4:69772488-69772489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:69213512..69216500-chr4:69770884..69773457,2	MCF-7	breast:
2	chr14:35451886..35454032-chr4:69771560..69773312,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000083896	Chromatin interaction
ENSG00000100883	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10000481	1.00[EUR][1000 genomes]
rs10004381	1.00[EUR][1000 genomes]
rs10005280	1.00[EUR][1000 genomes]
rs10014997	1.00[EUR][1000 genomes]
rs10015332	1.00[EUR][1000 genomes]
rs10018123	1.00[EUR][1000 genomes]
rs10030582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10030703	1.00[EUR][1000 genomes]
rs10903222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1117530	1.00[EUR][1000 genomes]
rs1117531	1.00[EUR][1000 genomes]
rs11936760	0.92[ASN][1000 genomes]
rs1303726	1.00[EUR][1000 genomes]
rs13113179	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13148459	1.00[EUR][1000 genomes]
rs1379814	1.00[EUR][1000 genomes]
rs1379815	1.00[EUR][1000 genomes]
rs1458239	1.00[EUR][1000 genomes]
rs1598901	1.00[EUR][1000 genomes]
rs1902924	1.00[EUR][1000 genomes]
rs1984569	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2085571	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2125306	1.00[EUR][1000 genomes]
rs2331566	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2331575	1.00[EUR][1000 genomes]
rs2331576	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2877423	1.00[EUR][1000 genomes]
rs3828503	1.00[EUR][1000 genomes]
rs3966087	1.00[EUR][1000 genomes]
rs58994091	0.90[ASN][1000 genomes]
rs6812386	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6858371	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7657317	1.00[EUR][1000 genomes]
rs7664636	1.00[EUR][1000 genomes]
rs7672933	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7678708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7688541	1.00[EUR][1000 genomes]
rs9329038	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005513	chr4:69446718-69890307	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	esv3398036	chr4:69700493-69841391	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv436447	chr4:69743339-69851390	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv518690	chr4:69752468-69772694	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv4372	chr4:69764499-69810115	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69769400-69773400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:69769600-69773200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:69770000-69773000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:69770600-69772800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:69771400-69772800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr4:69771400-69773000	Active TSS	Duodenum Mucosa	Duodenum
7	chr4:69771600-69772800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:69771600-69772800	Active TSS	Liver	Liver
9	chr4:69771600-69772800	Active TSS	Hela-S3	cervix
10	chr4:69771600-69773200	Active TSS	Fetal Intestine Small	intestine
11	chr4:69771800-69772600	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr4:69771800-69772600	Enhancers	Lung	lung
13	chr4:69771800-69772600	Active TSS	Stomach Smooth Muscle	stomach
14	chr4:69771800-69772800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr4:69771800-69772800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr4:69771800-69773000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr4:69772000-69772600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr4:69772000-69772800	Flanking Active TSS	Fetal Intestine Large	intestine
19	chr4:69772200-69772600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:69772200-69772600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr4:69772200-69772600	Flanking Active TSS	Esophagus	oesophagus
22	chr4:69772200-69772600	Active TSS	Fetal Muscle Leg	muscle
23	chr4:69772200-69772800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:69772200-69772800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:69772200-69773000	Active TSS	Fetal Stomach	stomach
26	chr4:69772200-69773000	Flanking Active TSS	Pancreas	Pancrea
27	chr4:69772200-69773200	Weak transcription	A549	lung
28	chr4:69772200-69774000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr4:69772400-69772600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr4:69772400-69772600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr4:69772400-69772600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:69772400-69772800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr4:69772400-69772800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:69772400-69772800	Enhancers	Brain Hippocampus Middle	brain
35	chr4:69772400-69772800	Enhancers	Fetal Lung	lung
36	chr4:69772400-69772800	Enhancers	Fetal Muscle Trunk	muscle
37	chr4:69772400-69772800	Enhancers	Ovary	ovary
38	chr4:69772400-69772800	Enhancers	Right Atrium	heart
39	chr4:69772400-69772800	Enhancers	Stomach Mucosa	stomach
40	chr4:69772400-69773400	Enhancers	Fetal Kidney	kidney
41	chr4:69772400-69773600	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links