Variant report

Variant	rs614028
Chromosome Location	chr6:36484252-36484253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36479455..36482254-chr6:36484077..36487230,3	K562	blood:
2	chr6:36482340..36485371-chr6:36486077..36489751,4	K562	blood:
3	chr6:36478709..36482254-chr6:36484077..36487660,3	K562	blood:
4	chr6:36483866..36485672-chr6:36560119..36562919,2	K562	blood:
5	chr6:36472144..36476208-chr6:36480337..36484283,3	MCF-7	breast:
6	chr6:36483451..36486025-chr6:36561545..36563381,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112081	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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10440841	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10947609	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12209346	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12214285	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1744654	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3752478	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3798471	0.87[AMR][1000 genomes];0.85[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];0.93[ASN][1000 genomes]
rs4295471	0.86[YRI][hapmap]
rs4711450	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4711452	1.00[CHB][hapmap];0.91[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];0.92[ASN][1000 genomes]
rs515129	0.87[ASN][1000 genomes]
rs515186	0.83[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];0.88[ASN][1000 genomes]
rs544267	0.96[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];0.87[ASN][1000 genomes]
rs547966	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs566742	0.95[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];0.92[ASN][1000 genomes]
rs584196	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs584418	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59440875	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs595954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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];0.84[ASN][1000 genomes]
rs605684	0.96[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs609067	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs619011	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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs628213	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs629721	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs632943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6457918	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs648125	0.88[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes]
rs659726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs664370	0.95[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]
rs668499	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs6923993	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6941918	0.85[ASN][1000 genomes]
rs73411054	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7744363	0.96[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]
rs853873	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs853881	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs853882	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs860513	0.85[AMR][1000 genomes];0.94[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];0.96[ASN][1000 genomes]
rs9394350	0.81[YRI][hapmap]
rs9470274	0.95[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	0.95[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];0.91[ASN][1000 genomes]
rs9470309	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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
rs614028	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	chr6:36468000-36487000	Weak transcription	Aorta	Aorta
10	chr6:36470600-36498800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:36473600-36491400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:36473600-36492200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:36473600-36500000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:36473800-36490400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:36474000-36495200	Weak transcription	Fetal Heart	heart
16	chr6:36474200-36486800	Weak transcription	A549	lung
17	chr6:36475600-36485400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr6:36476000-36485400	Strong transcription	Primary T cells from cord blood	blood
19	chr6:36476200-36497800	Strong transcription	Dnd41	blood
20	chr6:36476600-36484400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr6:36476600-36484400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:36476600-36487200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:36476800-36485000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr6:36476800-36486400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:36476800-36512200	Weak transcription	Brain Angular Gyrus	brain
26	chr6:36477400-36507400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr6:36478200-36489600	Weak transcription	K562	blood
28	chr6:36478400-36484400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:36478400-36487000	Weak transcription	Gastric	stomach
30	chr6:36478400-36493600	Weak transcription	Esophagus	oesophagus
31	chr6:36478400-36507400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:36478400-36507800	Strong transcription	Fetal Thymus	thymus
33	chr6:36478400-36513600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr6:36478400-36514000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:36478600-36487000	Weak transcription	Brain Anterior Caudate	brain
36	chr6:36478600-36490000	Weak transcription	Right Ventricle	heart
37	chr6:36478600-36493000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:36478800-36485800	Strong transcription	Primary hematopoietic stem cells	blood
39	chr6:36478800-36497400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:36478800-36512400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:36479000-36493000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:36479200-36491400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:36479600-36514400	Weak transcription	Spleen	Spleen
44	chr6:36479800-36490400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:36480200-36493800	Weak transcription	Stomach Mucosa	stomach
46	chr6:36480200-36496000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr6:36480800-36487000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:36480800-36487000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr6:36481400-36485200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:36481400-36512000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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