Variant report

Variant	rs10872851
Chromosome Location	chr14:31781575-31781576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31675776..31677438-chr14:31780625..31782203,2	MCF-7	breast:
2	chr14:31781406..31781906-chr19:27732227..27733066,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11156666	0.85[AMR][1000 genomes]
rs11624447	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11627106	0.84[AMR][1000 genomes]
rs12147258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12588420	0.92[CEU][hapmap];0.82[GIH][hapmap];0.88[TSI][hapmap]
rs12886573	0.81[CHB][hapmap]
rs12893465	0.81[ASW][hapmap];0.81[GIH][hapmap]
rs17097870	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes]
rs1888576	0.81[GIH][hapmap]
rs2378865	0.85[CEU][hapmap]
rs34709766	0.88[AMR][1000 genomes]
rs35904795	0.89[AMR][1000 genomes]
rs45490191	0.83[AMR][1000 genomes]
rs4981092	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4981835	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4981842	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs56314035	0.83[AMR][1000 genomes]
rs6571416	0.84[AMR][1000 genomes]
rs7149240	0.96[CEU][hapmap]
rs7150262	0.87[CEU][hapmap];0.84[TSI][hapmap]
rs7152230	0.96[CEU][hapmap];0.90[GIH][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs7157977	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes]
rs7159731	0.87[EUR][1000 genomes]
rs7161558	0.81[CEU][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap]
rs8017888	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][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	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
2	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
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10872851	HEATR5A	cis	cerebellum	SCAN
rs10872851	RP11-176H8.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31749400-31789000	Weak transcription	Psoas Muscle	Psoas
2	chr14:31761600-31794400	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr14:31761600-31794400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr14:31762200-31785200	Weak transcription	HMEC	breast
5	chr14:31762400-31794800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr14:31762800-31783000	Weak transcription	Fetal Thymus	thymus
7	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart
8	chr14:31763200-31783400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:31763400-31781800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:31763400-31784600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:31763600-31784600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:31764800-31784200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:31766800-31786800	Weak transcription	Small Intestine	intestine
14	chr14:31767400-31781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:31767600-31790400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:31767800-31783000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:31767800-31783800	Weak transcription	K562	blood
18	chr14:31767800-31789400	Strong transcription	Adipose Nuclei	Adipose
19	chr14:31767800-31795200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:31768000-31798600	Weak transcription	Brain Germinal Matrix	brain
21	chr14:31768000-31805800	Weak transcription	NHEK	skin
22	chr14:31768200-31783800	Strong transcription	Placenta	Placenta
23	chr14:31768200-31799200	Weak transcription	Colonic Mucosa	Colon
24	chr14:31768400-31798600	Weak transcription	Fetal Brain Female	brain
25	chr14:31769000-31793800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:31769200-31782600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr14:31769200-31786200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:31769800-31798600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:31770000-31781800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:31770000-31789400	Weak transcription	Fetal Brain Male	brain
31	chr14:31770000-31798200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:31770000-31812600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr14:31770200-31784600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:31770400-31802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr14:31771600-31786000	Weak transcription	Thymus	Thymus
37	chr14:31771600-31798600	Weak transcription	A549	lung
38	chr14:31772400-31825200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:31772800-31787800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr14:31773400-31798200	Weak transcription	Right Ventricle	heart
41	chr14:31773600-31789000	Weak transcription	HSMMtube	muscle
42	chr14:31773600-31789400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:31774000-31788200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr14:31774400-31792200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr14:31774400-31798600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr14:31774400-31800400	Weak transcription	Brain Angular Gyrus	brain
47	chr14:31774600-31784000	Weak transcription	NHDF-Ad	bronchial
48	chr14:31774600-31811200	Weak transcription	HUVEC	blood vessel
49	chr14:31775800-31781600	Weak transcription	Brain Substantia Nigra	brain
50	chr14:31776600-31781600	Weak transcription	NHLF	lung

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