Variant report

Variant	rs2005012
Chromosome Location	chr6:131166004-131166005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1043596	0.91[EUR][1000 genomes]
rs11754472	0.92[ASN][1000 genomes]
rs12194612	0.93[EUR][1000 genomes]
rs2183967	0.88[ASN][1000 genomes]
rs3777434	0.88[ASN][1000 genomes]
rs3777435	0.89[ASN][1000 genomes]
rs3777436	0.89[ASN][1000 genomes]
rs4075264	0.92[ASN][1000 genomes]
rs4897468	0.98[ASN][1000 genomes]
rs4897469	0.92[ASN][1000 genomes]
rs59946987	0.92[ASN][1000 genomes]
rs6569707	0.91[ASN][1000 genomes]
rs6569708	0.91[ASN][1000 genomes]
rs6569710	0.88[ASN][1000 genomes]
rs6919007	0.91[ASN][1000 genomes]
rs6936553	0.90[ASN][1000 genomes]
rs7739379	0.92[ASN][1000 genomes]
rs7760965	0.91[ASN][1000 genomes]
rs7761415	0.91[ASN][1000 genomes]
rs7770860	0.89[ASN][1000 genomes]
rs7775013	0.89[ASN][1000 genomes]
rs867707	0.91[EUR][1000 genomes]
rs872577	0.97[ASN][1000 genomes]
rs915172	0.92[EUR][1000 genomes]
rs928592	0.81[EUR][1000 genomes]
rs933063	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9385564	0.90[ASN][1000 genomes]
rs9388861	0.91[ASN][1000 genomes]
rs9388863	0.89[ASN][1000 genomes]
rs9402292	0.97[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	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2005012	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131132000-131173800	Weak transcription	HSMMtube	muscle
2	chr6:131136400-131174400	Weak transcription	Left Ventricle	heart
3	chr6:131149000-131172600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:131149400-131213200	Weak transcription	Pancreas	Pancrea
5	chr6:131150600-131183400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:131151600-131216600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:131152800-131168000	Weak transcription	Fetal Kidney	kidney
8	chr6:131154000-131173800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:131155000-131174600	Weak transcription	Aorta	Aorta
10	chr6:131157600-131170200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:131157800-131168200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:131157800-131170200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:131158000-131172200	Weak transcription	Brain Anterior Caudate	brain
14	chr6:131158200-131173800	Weak transcription	NH-A	brain
15	chr6:131158200-131179400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:131158200-131190600	Weak transcription	Spleen	Spleen
17	chr6:131158200-131214400	Weak transcription	Lung	lung
18	chr6:131158400-131168200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:131158600-131174400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:131159000-131174600	Weak transcription	Placenta	Placenta
21	chr6:131159000-131229000	Weak transcription	Colonic Mucosa	Colon
22	chr6:131159600-131174400	Weak transcription	A549	lung
23	chr6:131160200-131167600	Weak transcription	NHDF-Ad	bronchial
24	chr6:131160600-131167000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:131160600-131179200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr6:131161000-131186600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:131161200-131168000	Weak transcription	Primary B cells from cord blood	blood
28	chr6:131161200-131168600	Weak transcription	NHLF	lung
29	chr6:131161200-131174400	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:131161200-131174400	Weak transcription	Fetal Intestine Small	intestine
31	chr6:131161400-131172000	Weak transcription	Brain Substantia Nigra	brain
32	chr6:131161400-131172200	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:131161600-131176800	Weak transcription	Dnd41	blood
34	chr6:131161800-131186400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:131162800-131166600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:131162800-131168200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:131162800-131168200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr6:131162800-131168200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:131162800-131169800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:131162800-131170200	Weak transcription	Psoas Muscle	Psoas
41	chr6:131162800-131170400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr6:131162800-131173800	Weak transcription	HSMM	muscle
43	chr6:131162800-131174400	Weak transcription	Ovary	ovary
44	chr6:131162800-131174600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:131163000-131170400	Weak transcription	Osteobl	bone
46	chr6:131163000-131170800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:131163000-131174600	Weak transcription	Fetal Intestine Large	intestine
48	chr6:131163200-131168200	Weak transcription	Fetal Lung	lung
49	chr6:131163600-131174600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr6:131163800-131166800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links