Variant report

Variant	rs4981830
Chromosome Location	chr14:31734825-31734826
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	chr14:31732131..31735050-chr14:31739245..31741338,2	K562	blood:
2	chr14:31673985..31677853-chr14:31730006..31735257,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10135901	0.84[AMR][1000 genomes]
rs10137205	0.84[AMR][1000 genomes]
rs12185024	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12883671	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12883762	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12889534	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12893153	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12895556	0.83[ASN][1000 genomes]
rs2093616	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2378833	0.83[ASN][1000 genomes]
rs2378849	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4981829	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55633656	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7161558	0.83[AMR][1000 genomes]
rs72672613	0.83[ASN][1000 genomes]
rs8014203	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4981830	RP11-176H8.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31726400-31736000	Enhancers	Liver	Liver
2	chr14:31727200-31735000	Weak transcription	Gastric	stomach
3	chr14:31729400-31736200	Enhancers	Stomach Mucosa	stomach
4	chr14:31730400-31735800	Enhancers	NHLF	lung
5	chr14:31731000-31735400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:31731000-31735600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:31731000-31735800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:31731000-31735800	Enhancers	HMEC	breast
9	chr14:31731000-31736000	Enhancers	NHEK	skin
10	chr14:31731400-31735200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:31731600-31735000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:31731600-31735000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:31732200-31735000	Weak transcription	Brain Anterior Caudate	brain
14	chr14:31732200-31735000	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:31732200-31735200	Weak transcription	Fetal Kidney	kidney
16	chr14:31732200-31736000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:31732600-31736000	Enhancers	Fetal Intestine Large	intestine
18	chr14:31732800-31735600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:31732800-31736000	Enhancers	Fetal Intestine Small	intestine
20	chr14:31733200-31735200	Weak transcription	Right Atrium	heart
21	chr14:31733200-31735400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr14:31733400-31735000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:31733400-31736200	Enhancers	NHDF-Ad	bronchial
24	chr14:31733400-31737000	Weak transcription	HSMMtube	muscle
25	chr14:31733400-31739400	Weak transcription	Esophagus	oesophagus
26	chr14:31733600-31735000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:31733600-31735000	Weak transcription	GM12878-XiMat	blood
28	chr14:31733600-31735200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr14:31733600-31735600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:31733600-31736400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:31733800-31735000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:31733800-31735000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:31733800-31735000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr14:31733800-31735000	Enhancers	HepG2	liver
35	chr14:31733800-31735000	Weak transcription	Osteobl	bone
36	chr14:31733800-31737200	Weak transcription	Fetal Lung	lung
37	chr14:31734000-31735000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr14:31734000-31735000	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:31734000-31735000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:31734000-31735000	Weak transcription	Small Intestine	intestine
41	chr14:31734000-31735000	Weak transcription	A549	lung
42	chr14:31734000-31735400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:31734000-31738600	Weak transcription	HUVEC	blood vessel
44	chr14:31734400-31735600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:31734600-31735400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:31734600-31735400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:31734600-31735400	Enhancers	Hela-S3	cervix
48	chr14:31734600-31735400	Enhancers	NH-A	brain
49	chr14:31734600-31735600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:31734800-31735400	Enhancers	K562	blood

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