Variant report

Variant	rs1812141
Chromosome Location	chr8:130994861-130994862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130986305..130988382-chr8:130992226..130994888,2	K562	blood:
2	chr8:130994427..130996216-chr8:130998124..131000537,2	MCF-7	breast:
3	chr8:130951032..130953275-chr8:130994834..130996903,2	K562	blood:

Variant related genes	Relation type
ENSG00000253720	Chromatin interaction
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10100858	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.97[ASN][1000 genomes]
rs10956505	0.89[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap]
rs10956506	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12543085	0.81[ASN][1000 genomes]
rs12548669	0.81[ASN][1000 genomes]
rs13271197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1467048	0.85[JPT][hapmap]
rs16904184	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16904185	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2065409	0.97[ASN][1000 genomes]
rs2065410	0.97[ASN][1000 genomes]
rs2395952	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2395953	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34112957	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35782876	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4733755	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4733756	0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62524593	0.97[ASN][1000 genomes]
rs874580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs874581	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs874582	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs882447	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs921693	0.89[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS 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	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1812141	TMEM71	cis	cerebellum	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130981600-130995800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:130985000-130995800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr8:130985000-130995800	Weak transcription	Left Ventricle	heart
4	chr8:130985000-130995800	Weak transcription	Right Atrium	heart
5	chr8:130985200-130996000	Weak transcription	Stomach Mucosa	stomach
6	chr8:130985600-130995800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:130985600-130995800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:130986000-130995800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:130986000-130996200	Weak transcription	Hela-S3	cervix
10	chr8:130986200-131003600	Weak transcription	Thymus	Thymus
11	chr8:130986400-130995800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:130986400-130995800	Weak transcription	Brain Substantia Nigra	brain
13	chr8:130986400-130995800	Weak transcription	Gastric	stomach
14	chr8:130986400-130995800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:130986400-130998400	Weak transcription	Fetal Thymus	thymus
16	chr8:130986600-130996400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:130987400-130998200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:130988000-130996400	Weak transcription	K562	blood
19	chr8:130988200-130995600	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:130988200-130996200	Weak transcription	Primary B cells from cord blood	blood
21	chr8:130988200-130996200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:130988200-130997400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:130988400-130996800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:130989200-131000000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:130991000-130997400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:130991000-130997800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr8:130991200-130995800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr8:130992000-130996200	Weak transcription	Primary T cells from cord blood	blood
29	chr8:130993400-130995800	Enhancers	HMEC	breast
30	chr8:130993400-131000200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr8:130993800-130995400	Enhancers	Brain Hippocampus Middle	brain
32	chr8:130994000-130995000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr8:130994000-130995200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:130994000-130995200	Enhancers	Adipose Nuclei	Adipose
35	chr8:130994000-130995800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr8:130994000-130996200	Enhancers	A549	lung
37	chr8:130994000-130996200	Enhancers	NHEK	skin
38	chr8:130994000-130997000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr8:130994200-130995200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:130994200-130995800	Enhancers	Brain Cingulate Gyrus	brain
41	chr8:130994200-130995800	Weak transcription	Esophagus	oesophagus
42	chr8:130994200-130997000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:130994200-130998400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:130994200-130999200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:130994400-130995200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:130994400-130995800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:130994400-130995800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:130994600-130995000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:130994600-130995800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:130994600-130995800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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