Variant report

Variant	rs10191970
Chromosome Location	chr2:39752949-39752950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39750470..39752970-chr2:39756347..39759099,3	K562	blood:
2	chr2:39749162..39751923-chr2:39751985..39754949,2	MCF-7	breast:
3	chr2:39750470..39752970-chr2:39756347..39759099,2	K562	blood:
4	chr2:39741137..39743112-chr2:39751728..39753579,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11896239	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13027520	0.95[ASN][1000 genomes]
rs13391377	0.95[ASN][1000 genomes]
rs17023923	0.82[ASN][1000 genomes]
rs17532603	0.96[CEU][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2888602	1.00[JPT][hapmap]
rs35377016	0.95[ASN][1000 genomes]
rs4670282	0.88[ASN][1000 genomes]
rs4670285	0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4670943	0.86[ASN][1000 genomes]
rs56337010	0.91[ASN][1000 genomes]
rs6740898	0.86[ASN][1000 genomes]
rs72803112	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72803115	0.90[ASN][1000 genomes]
rs734663	0.85[CEU][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs7594967	0.81[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10191970	HEATR5B	cis	cerebellum	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39744200-39753200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:39748400-39753600	Enhancers	Psoas Muscle	Psoas
3	chr2:39748600-39753400	Enhancers	Left Ventricle	heart
4	chr2:39748800-39753000	Enhancers	Stomach Smooth Muscle	stomach
5	chr2:39749400-39757200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:39749400-39758000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:39749400-39761000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:39749600-39753400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:39749800-39753000	Enhancers	HSMM	muscle
10	chr2:39749800-39753400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:39750000-39761000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:39750200-39753400	Enhancers	Adipose Nuclei	Adipose
13	chr2:39750200-39753400	Enhancers	Fetal Heart	heart
14	chr2:39750400-39753200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:39750400-39753400	Enhancers	Fetal Muscle Leg	muscle
16	chr2:39750600-39753000	Enhancers	Placenta	Placenta
17	chr2:39750600-39753400	Enhancers	Right Atrium	heart
18	chr2:39750600-39754400	Enhancers	HepG2	liver
19	chr2:39750800-39760200	Weak transcription	Gastric	stomach
20	chr2:39751200-39753000	Enhancers	Liver	Liver
21	chr2:39751200-39760400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:39751400-39753000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:39751400-39753200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:39751400-39753400	Enhancers	A549	lung
25	chr2:39751400-39753600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:39751400-39760200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:39751600-39753000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:39751600-39753400	Enhancers	HSMMtube	muscle
29	chr2:39751600-39757200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:39751800-39753400	Enhancers	Right Ventricle	heart
31	chr2:39751800-39757000	Weak transcription	HUVEC	blood vessel
32	chr2:39752000-39755000	Enhancers	GM12878-XiMat	blood
33	chr2:39752000-39755200	Enhancers	Primary B cells from peripheral blood	blood
34	chr2:39752000-39756600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:39752200-39753400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:39752200-39755200	Enhancers	Primary B cells from cord blood	blood
37	chr2:39752400-39753200	Enhancers	Primary hematopoietic stem cells	blood
38	chr2:39752400-39753200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:39752400-39753400	Enhancers	Pancreas	Pancrea
40	chr2:39752400-39753400	Enhancers	Stomach Mucosa	stomach
41	chr2:39752400-39753400	Enhancers	Spleen	Spleen
42	chr2:39752400-39757600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:39752600-39753800	Weak transcription	Aorta	Aorta
44	chr2:39752600-39756600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:39752600-39756600	Weak transcription	NHDF-Ad	bronchial
46	chr2:39752600-39757000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:39752600-39757000	Weak transcription	NHEK	skin
48	chr2:39752600-39757000	Weak transcription	Osteobl	bone
49	chr2:39752600-39757200	Weak transcription	Hela-S3	cervix
50	chr2:39752600-39757200	Weak transcription	NHLF	lung

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