Variant report

Variant	rs6975
Chromosome Location	chr6:131156102-131156103
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP3-324N14.2.1-1	chr6:131156010-131158273	ENSG00000256162

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1044303	0.83[EUR][1000 genomes]
rs12199765	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12202038	0.86[EUR][1000 genomes]
rs1360756	0.82[EUR][1000 genomes]
rs1413754	0.83[EUR][1000 genomes]
rs2236075	0.86[EUR][1000 genomes]
rs2236081	0.85[EUR][1000 genomes]
rs2236082	0.85[EUR][1000 genomes]
rs2281490	0.86[EUR][1000 genomes]
rs915171	0.82[CEU][hapmap]
rs9388856	0.83[EUR][1000 genomes]
rs9388857	0.83[EUR][1000 genomes]
rs9402288	0.83[EUR][1000 genomes]
rs9402289	0.83[EUR][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
rs6975	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131132000-131159200	Weak transcription	HSMM	muscle
2	chr6:131132000-131173800	Weak transcription	HSMMtube	muscle
3	chr6:131136400-131174400	Weak transcription	Left Ventricle	heart
4	chr6:131147600-131157800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:131148000-131157000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:131148800-131158000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:131149000-131172600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr6:131149400-131213200	Weak transcription	Pancreas	Pancrea
9	chr6:131149600-131160400	Weak transcription	Fetal Brain Male	brain
10	chr6:131150400-131161400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:131150600-131183400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:131151600-131157600	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:131151600-131158200	Genic enhancers	HepG2	liver
14	chr6:131151600-131216600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:131152400-131159400	Weak transcription	Adipose Nuclei	Adipose
16	chr6:131152400-131161800	Strong transcription	Fetal Intestine Large	intestine
17	chr6:131152800-131168000	Weak transcription	Fetal Kidney	kidney
18	chr6:131153400-131159600	Weak transcription	Fetal Stomach	stomach
19	chr6:131153600-131162400	Weak transcription	Fetal Lung	lung
20	chr6:131154000-131173800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:131154600-131160800	Weak transcription	Fetal Intestine Small	intestine
22	chr6:131154800-131156200	Flanking Active TSS	Liver	Liver
23	chr6:131155000-131160200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:131155000-131174600	Weak transcription	Aorta	Aorta
25	chr6:131155800-131156200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:131156000-131158200	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links