Variant report

Variant	rs2848635
Chromosome Location	chr11:57253931-57253932
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	chr11:57253056..57260530-chr11:57277596..57285007,11	K562	blood:
2	chr11:57247726..57251510-chr11:57253790..57259247,6	K562	blood:

Variant related genes	Relation type
ENSG00000251995	Chromatin interaction
ENSG00000149150	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1001956	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10750864	0.84[AMR][1000 genomes]
rs2250673	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2258835	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2467327	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2509899	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511984	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2511986	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2581921	0.86[ASN][1000 genomes]
rs2581922	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2581923	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2584856	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2584862	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2649667	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2729353	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2729363	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2729377	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2729384	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2729387	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2729394	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2848626	0.85[ASN][1000 genomes]
rs2848634	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2848640	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3851117	0.83[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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2848635	TIMM10	cis	Heart Left Ventricle	GTEx
rs2848635	TIMM10	cis	Artery Aorta	GTEx
rs2848635	TIMM10	cis	Artery Tibial	GTEx
rs2848635	TIMM10	cis	multi-tissue	Pritchard
rs2848635	TIMM10	cis	Esophagus Muscularis	GTEx
rs2848635	TIMM10	cis	Esophagus Mucosa	GTEx
rs2848635	TIMM10	cis	Muscle Skeletal	GTEx
rs2848635	TIMM10	cis	Thyroid	GTEx
rs2848635	TIMM10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57250600-57259600	Strong transcription	Pancreas	Pancrea
2	chr11:57250800-57259600	Strong transcription	HepG2	liver
3	chr11:57250800-57266000	Weak transcription	Right Atrium	heart
4	chr11:57251000-57254000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr11:57251000-57254600	Weak transcription	NHLF	lung
6	chr11:57251000-57254800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:57251000-57260600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:57251000-57261400	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:57251000-57266800	Weak transcription	HUVEC	blood vessel
10	chr11:57251000-57267400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:57251200-57254000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:57251200-57254600	Weak transcription	Psoas Muscle	Psoas
13	chr11:57251200-57254600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:57251200-57255200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:57251200-57255200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:57251200-57257600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:57251200-57259600	Strong transcription	Liver	Liver
18	chr11:57251200-57260800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:57251200-57260800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:57251200-57261000	Weak transcription	Brain Angular Gyrus	brain
21	chr11:57251200-57261000	Weak transcription	Dnd41	blood
22	chr11:57251200-57263800	Strong transcription	Ovary	ovary
23	chr11:57251200-57266800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:57251200-57266800	Weak transcription	HSMM	muscle
25	chr11:57251200-57280600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:57251400-57254600	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:57251400-57255600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:57251400-57258200	Weak transcription	NHDF-Ad	bronchial
29	chr11:57251400-57261200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:57251400-57266000	Weak transcription	Brain Substantia Nigra	brain
31	chr11:57251400-57266200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:57251400-57266400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:57251400-57266800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:57251400-57279200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr11:57251400-57281200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:57251600-57255800	Weak transcription	Fetal Heart	heart
37	chr11:57251600-57257000	Weak transcription	Fetal Lung	lung
38	chr11:57251600-57258800	Strong transcription	Adipose Nuclei	Adipose
39	chr11:57251600-57259600	Strong transcription	Fetal Intestine Small	intestine
40	chr11:57251600-57259800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr11:57251600-57260800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:57251600-57266800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:57251800-57254000	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:57251800-57257400	Strong transcription	Left Ventricle	heart
45	chr11:57251800-57266200	Strong transcription	Fetal Stomach	stomach
46	chr11:57252000-57254400	Weak transcription	Esophagus	oesophagus
47	chr11:57252000-57256600	Weak transcription	Primary T cells from cord blood	blood
48	chr11:57252000-57259200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:57252000-57259200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:57252000-57259200	Strong transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links