Variant report

Variant	rs10100858
Chromosome Location	chr8:131001150-131001151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130995016..130997568-chr8:131000713..131003679,2	MCF-7	breast:
2	chr8:130996752..130999185-chr8:131000348..131002341,2	MCF-7	breast:
3	chr8:130999535..131002267-chr8:131027934..131030613,2	MCF-7	breast:
4	chr8:130984372..130987995-chr8:130999430..131001156,3	K562	blood:
5	chr8:130999286..131001755-chr8:131008650..131010695,2	K562	blood:

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10956505	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs10956506	0.81[ASN][1000 genomes]
rs13271197	0.96[ASN][1000 genomes]
rs1467048	0.85[JPT][hapmap]
rs16904184	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16904185	0.95[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.96[ASN][1000 genomes]
rs1812141	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]
rs2065409	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065410	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395952	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2395953	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34112957	0.87[ASN][1000 genomes]
rs35782876	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4733755	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4733756	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs62524593	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874580	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs874581	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs874582	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs882447	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs921693	0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[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
rs10100858	TMEM71	cis	cerebellum	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130986200-131003600	Weak transcription	Thymus	Thymus
2	chr8:130994800-131001600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr8:130996000-131001400	Enhancers	Duodenum Mucosa	Duodenum
4	chr8:130996000-131001600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr8:130996600-131009600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:130996600-131017400	Weak transcription	Fetal Intestine Small	intestine
7	chr8:130996800-131001800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:130996800-131004000	Weak transcription	K562	blood
9	chr8:130996800-131011600	Weak transcription	Left Ventricle	heart
10	chr8:130997000-131001800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr8:130997000-131004000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:130997000-131006800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:130997000-131006800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:130997000-131006800	Weak transcription	Right Atrium	heart
15	chr8:130997000-131007000	Weak transcription	HSMMtube	muscle
16	chr8:130997000-131007600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:130997000-131008600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:130997000-131008600	Weak transcription	Osteobl	bone
19	chr8:130997000-131009800	Weak transcription	Fetal Heart	heart
20	chr8:130997600-131007200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:130997800-131001400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr8:130997800-131004800	Weak transcription	HSMM	muscle
23	chr8:130998400-131006600	Weak transcription	Esophagus	oesophagus
24	chr8:130998400-131006800	Weak transcription	Small Intestine	intestine
25	chr8:130998400-131007000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:130998400-131007400	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:130998400-131008000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:130998400-131009000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:130998400-131017400	Weak transcription	Fetal Intestine Large	intestine
30	chr8:130998600-131007000	Weak transcription	Hela-S3	cervix
31	chr8:130998600-131009000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:130998600-131009600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:130998800-131006400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:130999000-131006600	Weak transcription	Brain Angular Gyrus	brain
35	chr8:130999200-131001800	Genic enhancers	Primary T cells fromperipheralblood	blood
36	chr8:130999200-131002200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:130999200-131006400	Weak transcription	Gastric	stomach
38	chr8:130999200-131007000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:130999400-131006800	Weak transcription	Pancreas	Pancrea
40	chr8:130999400-131008200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr8:130999600-131001400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:130999600-131006200	Weak transcription	Adipose Nuclei	Adipose
43	chr8:130999600-131006200	Weak transcription	HMEC	breast
44	chr8:130999600-131007000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:130999600-131008000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr8:130999800-131001400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:131000000-131003800	Genic enhancers	Primary B cells from peripheral blood	blood
48	chr8:131000000-131004600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:131000200-131001600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr8:131000200-131001800	Genic enhancers	Primary monocytes fromperipheralblood	blood

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