Variant report

Variant	rs619011
Chromosome Location	chr6:36476592-36476593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36474397..36477191-chr6:36544292..36546123,2	MCF-7	breast:
2	chr6:36474628..36477147-chr6:36484775..36487210,3	K562	blood:
3	chr6:36470331..36472950-chr6:36474034..36477426,3	K562	blood:
4	chr6:36409564..36413749-chr6:36473812..36477926,5	K562	blood:
5	chr6:36470157..36472950-chr6:36474808..36477426,3	K562	blood:
6	chr6:36475084..36480133-chr6:36561035..36564418,5	MCF-7	breast:
7	chr6:36410776..36413749-chr6:36473812..36476738,2	K562	blood:

Variant related genes	Relation type
ENSG00000179165	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000112078	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1003250	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10440841	0.92[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10947609	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12209346	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12214285	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12215889	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1233080	0.84[AMR][1000 genomes]
rs1570368	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1744654	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3752478	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3798471	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4140593	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4295471	0.86[YRI][hapmap]
rs4711450	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4711452	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4711453	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs515129	0.86[ASN][1000 genomes]
rs515186	0.82[ASN][1000 genomes]
rs517890	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs522179	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs544267	0.92[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs546272	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs546353	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs547026	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs547966	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs566742	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57389119	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs584196	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs584418	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59440875	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs595954	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs597153	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs600192	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs605684	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs609067	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs614028	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs621796	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs628213	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs628314	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs629297	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs629560	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs629721	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs632943	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6457918	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs648125	0.83[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes]
rs659726	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs664370	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs668499	0.95[CEU][hapmap];0.87[CHB][hapmap]
rs6923993	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6941918	0.84[ASN][1000 genomes]
rs73411054	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7744363	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs853873	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs853881	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs853882	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs860513	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9296184	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9357214	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9394350	0.81[YRI][hapmap]
rs9470274	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9470278	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9470285	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9470309	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][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
rs619011	ETV7	cis	Whole Blood	GTEx

Chromatin state (count:126 , 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	chr6:36437800-36477600	Strong transcription	Fetal Thymus	thymus
3	chr6:36447200-36477600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:36447400-36477800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:36450000-36479800	Weak transcription	Stomach Mucosa	stomach
6	chr6:36456400-36512600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:36457400-36484400	Weak transcription	Right Atrium	heart
8	chr6:36461400-36481400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:36462200-36477800	Strong transcription	Primary hematopoietic stem cells	blood
10	chr6:36462600-36477400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:36463000-36507200	Weak transcription	Fetal Brain Male	brain
12	chr6:36463600-36493600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr6:36463800-36478000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:36463800-36493400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr6:36463800-36513600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:36464200-36477600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:36465200-36477800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:36465400-36477400	Weak transcription	NHEK	skin
19	chr6:36465400-36477600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:36465400-36477600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:36465600-36489800	Weak transcription	Psoas Muscle	Psoas
22	chr6:36467800-36477800	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:36467800-36479800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr6:36468000-36476600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:36468000-36477600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr6:36468000-36482400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:36468000-36487000	Weak transcription	Aorta	Aorta
28	chr6:36469000-36482400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:36469400-36477200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:36469400-36477200	Strong transcription	Primary B cells from cord blood	blood
31	chr6:36469600-36479000	Strong transcription	HSMM	muscle
32	chr6:36470400-36477600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:36470400-36480400	Strong transcription	Fetal Lung	lung
34	chr6:36470600-36498800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr6:36471400-36477600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:36471800-36476600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:36472800-36483200	Strong transcription	Fetal Muscle Leg	muscle
38	chr6:36472800-36483400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr6:36473000-36476600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
40	chr6:36473200-36476600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr6:36473200-36480200	Strong transcription	HSMMtube	muscle
42	chr6:36473600-36477600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr6:36473600-36482000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:36473600-36491400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr6:36473600-36492200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:36473600-36500000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:36473800-36477600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr6:36473800-36477800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:36473800-36479200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr6:36473800-36482800	Weak transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links