Variant report

Variant	rs6713002
Chromosome Location	chr2:86185291-86185292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86178306..86181703-chr2:86184579..86188621,5	MCF-7	breast:
2	chr2:86181209..86184209-chr2:86184954..86187247,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10181091	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186005	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10460588	0.86[AMR][1000 genomes]
rs11127010	0.87[AMR][1000 genomes]
rs11127011	0.87[AMR][1000 genomes]
rs11890514	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11891625	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12470643	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12472588	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12473456	0.89[AMR][1000 genomes]
rs12476390	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12714161	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13000793	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13397189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438153	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1438155	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1866242	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2083168	0.80[EUR][1000 genomes]
rs2099616	0.80[EUR][1000 genomes]
rs2099617	0.80[EUR][1000 genomes]
rs2276626	0.84[ASN][1000 genomes]
rs3937593	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4514874	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4832227	0.81[AMR][1000 genomes]
rs6547651	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6547654	0.80[EUR][1000 genomes]
rs6708525	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6714363	0.86[AMR][1000 genomes]
rs6728146	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6737454	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6756342	0.86[AMR][1000 genomes]
rs7595420	0.80[EUR][1000 genomes]
rs7599326	0.82[EUR][1000 genomes]
rs893442	0.80[EUR][1000 genomes]
rs934829	0.80[EUR][1000 genomes]
rs934831	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6713002	IMMT	Cis_1M	lymphoblastoid	RTeQTL
rs6713002	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs6713002	IMMT	cis	uninvolved skin	skin_eQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86178800-86188200	Enhancers	Fetal Muscle Leg	muscle
2	chr2:86180200-86187600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:86180800-86188600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:86181000-86186600	Weak transcription	K562	blood
5	chr2:86181800-86186200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:86182600-86187600	Weak transcription	Esophagus	oesophagus
7	chr2:86183400-86185800	Weak transcription	A549	lung
8	chr2:86183600-86187600	Weak transcription	Pancreas	Pancrea
9	chr2:86183800-86190800	Weak transcription	Stomach Mucosa	stomach
10	chr2:86184200-86186600	Weak transcription	Psoas Muscle	Psoas
11	chr2:86184400-86187600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:86184600-86185600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:86184600-86186400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:86184600-86186600	Weak transcription	HSMMtube	muscle
15	chr2:86184600-86188400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:86184800-86187400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:86184800-86188200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:86185200-86187000	Enhancers	Fetal Muscle Trunk	muscle

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