Variant report

Variant	rs10955841
Chromosome Location	chr8:118946541-118946542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10283365	0.93[ASN][1000 genomes]
rs1125103	0.80[EUR][1000 genomes]
rs11780699	0.80[EUR][1000 genomes]
rs11781245	0.80[EUR][1000 genomes]
rs13263541	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs13264137	0.81[CEU][hapmap];0.90[JPT][hapmap]
rs2447535	0.82[EUR][1000 genomes]
rs2447536	0.81[EUR][1000 genomes]
rs2447537	0.80[EUR][1000 genomes]
rs2447540	0.81[EUR][1000 genomes]
rs2514719	0.81[EUR][1000 genomes]
rs4298514	0.81[EUR][1000 genomes]
rs4541958	0.80[EUR][1000 genomes]
rs4644291	0.81[EUR][1000 genomes]
rs4876778	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs6469718	0.81[EUR][1000 genomes]
rs7824651	0.80[EUR][1000 genomes]
rs958381	0.80[EUR][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	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10955841	SNTB1	cis	parietal	SCAN
rs10955841	MAL2	cis	cerebellum	SCAN
rs10955841	MED30	cis	parietal	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118933200-118946600	Weak transcription	Gastric	stomach
2	chr8:118933600-118946600	Weak transcription	Brain Germinal Matrix	brain
3	chr8:118935200-118949800	Weak transcription	Psoas Muscle	Psoas
4	chr8:118935200-118958600	Weak transcription	Esophagus	oesophagus
5	chr8:118938000-118949800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:118938800-118947600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:118939400-118946600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:118940600-118949400	Weak transcription	HSMM	muscle
9	chr8:118940800-118946600	Weak transcription	Osteobl	bone
10	chr8:118940800-118949600	Weak transcription	HepG2	liver
11	chr8:118941000-118947800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:118941200-118949200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:118941400-118947600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:118941800-118946600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:118942000-118946600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:118942000-118946600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:118942400-118947400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:118942400-118947600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:118942400-118947800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr8:118942800-118947600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr8:118943000-118947200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:118943800-118950800	Enhancers	Liver	Liver
23	chr8:118944200-118948200	Weak transcription	Small Intestine	intestine
24	chr8:118944400-118947800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:118944600-118947200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:118944800-118947400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr8:118944800-118949600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:118945000-118947000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:118945600-118946600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:118945600-118947200	Enhancers	Rectal Smooth Muscle	rectum
31	chr8:118945600-118948000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:118945800-118946600	Enhancers	HMEC	breast
33	chr8:118945800-118947200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:118945800-118947400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:118945800-118947400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr8:118945800-118947600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr8:118945800-118948400	Enhancers	Right Atrium	heart
38	chr8:118945800-118948800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:118946000-118946800	Enhancers	Left Ventricle	heart
40	chr8:118946000-118947000	Enhancers	H9 Cell Line	embryonic stem cell
41	chr8:118946000-118947200	Enhancers	Placenta	Placenta
42	chr8:118946000-118947200	Flanking Active TSS	NHEK	skin
43	chr8:118946000-118947400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:118946000-118947400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr8:118946000-118947400	Enhancers	Primary T cells from cord blood	blood
46	chr8:118946000-118947400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:118946000-118947400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:118946000-118947400	Enhancers	Colon Smooth Muscle	Colon
49	chr8:118946000-118947400	Enhancers	Right Ventricle	heart
50	chr8:118946000-118947400	Enhancers	NHDF-Ad	bronchial

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