Variant report

Variant	rs1233080
Chromosome Location	chr6:36481760-36481761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36478709..36482254-chr6:36484077..36487660,3	K562	blood:
2	chr6:36479455..36482254-chr6:36484077..36487230,3	K562	blood:
3	chr6:36438533..36440442-chr6:36481123..36483555,2	K562	blood:
4	chr6:36472144..36476208-chr6:36480337..36484283,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1003250	0.82[AMR][1000 genomes]
rs12214285	0.83[AMR][1000 genomes]
rs584196	0.84[AMR][1000 genomes]
rs595954	0.83[AMR][1000 genomes]
rs605684	0.84[AMR][1000 genomes]
rs614028	0.84[AMR][1000 genomes]
rs619011	0.84[AMR][1000 genomes]
rs621796	0.84[AMR][1000 genomes]
rs632943	0.84[AMR][1000 genomes]
rs659726	0.84[AMR][1000 genomes]
rs6923993	0.84[AMR][1000 genomes]
rs7744363	0.84[AMR][1000 genomes]
rs853881	0.87[AMR][1000 genomes]
rs853882	0.84[AMR][1000 genomes]
rs860513	0.82[AMR][1000 genomes]
rs9357214	0.84[AMR][1000 genomes]
rs9470285	0.81[AMR][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	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv5260	chr6:36471464-36516119	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS 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	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1233080	ETV7	cis	Whole Blood	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36430800-36488800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:36456400-36512600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:36457400-36484400	Weak transcription	Right Atrium	heart
4	chr6:36463000-36507200	Weak transcription	Fetal Brain Male	brain
5	chr6:36463600-36493600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr6:36463800-36493400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr6:36463800-36513600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:36465600-36489800	Weak transcription	Psoas Muscle	Psoas
9	chr6:36468000-36482400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:36468000-36487000	Weak transcription	Aorta	Aorta
11	chr6:36469000-36482400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:36470600-36498800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr6:36472800-36483200	Strong transcription	Fetal Muscle Leg	muscle
14	chr6:36472800-36483400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr6:36473600-36482000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:36473600-36491400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:36473600-36492200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:36473600-36500000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:36473800-36482800	Weak transcription	Hela-S3	cervix
20	chr6:36473800-36490400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:36474000-36495200	Weak transcription	Fetal Heart	heart
22	chr6:36474200-36482800	Weak transcription	GM12878-XiMat	blood
23	chr6:36474200-36483000	Weak transcription	Small Intestine	intestine
24	chr6:36474200-36486800	Weak transcription	A549	lung
25	chr6:36474400-36483600	Weak transcription	Brain Substantia Nigra	brain
26	chr6:36474600-36482400	Weak transcription	HMEC	breast
27	chr6:36475200-36482000	Weak transcription	Fetal Kidney	kidney
28	chr6:36475200-36482200	Weak transcription	HepG2	liver
29	chr6:36475600-36483200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:36475600-36485400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr6:36476000-36485400	Strong transcription	Primary T cells from cord blood	blood
32	chr6:36476200-36483000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:36476200-36497800	Strong transcription	Dnd41	blood
34	chr6:36476400-36482400	Strong transcription	Left Ventricle	heart
35	chr6:36476400-36482600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr6:36476400-36483400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:36476600-36484400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr6:36476600-36484400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:36476600-36487200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:36476800-36482000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:36476800-36485000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:36476800-36486400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:36476800-36512200	Weak transcription	Brain Angular Gyrus	brain
44	chr6:36477000-36483200	Strong transcription	Placenta	Placenta
45	chr6:36477400-36507400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr6:36477800-36483800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr6:36478000-36483600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:36478200-36482800	Weak transcription	Colonic Mucosa	Colon
49	chr6:36478200-36483200	Strong transcription	Fetal Stomach	stomach
50	chr6:36478200-36489600	Weak transcription	K562	blood

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