Variant report

Variant	rs629560
Chromosome Location	chr6:36511391-36511392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36510774..36513528-chr6:36514327..36515918,2	MCF-7	breast:
2	chr6:36510007..36526277-chr6:36558145..36566762,35	K562	blood:

Variant related genes	Relation type
ENSG00000112081	Chromatin interaction
ENSG00000112079	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

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

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36456400-36512600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:36463800-36513600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:36476800-36512200	Weak transcription	Brain Angular Gyrus	brain
4	chr6:36478400-36513600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:36478400-36514000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:36478800-36512400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:36479600-36514400	Weak transcription	Spleen	Spleen
8	chr6:36481400-36512000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:36484600-36514000	Weak transcription	Pancreas	Pancrea
10	chr6:36484800-36512400	Weak transcription	Right Atrium	heart
11	chr6:36488800-36513800	Weak transcription	Aorta	Aorta
12	chr6:36491800-36512400	Weak transcription	Small Intestine	intestine
13	chr6:36492400-36514000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:36494000-36512000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:36494400-36512000	Weak transcription	NHEK	skin
16	chr6:36494400-36512400	Weak transcription	Esophagus	oesophagus
17	chr6:36496000-36513400	Weak transcription	Psoas Muscle	Psoas
18	chr6:36496200-36514200	Weak transcription	Gastric	stomach
19	chr6:36496600-36511400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:36497600-36512400	Weak transcription	Right Ventricle	heart
21	chr6:36500000-36514000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:36502000-36511800	Weak transcription	A549	lung
23	chr6:36505600-36511800	Strong transcription	Fetal Intestine Large	intestine
24	chr6:36506200-36512400	Weak transcription	Lung	lung
25	chr6:36507600-36512000	Weak transcription	Brain Germinal Matrix	brain
26	chr6:36508000-36512000	Weak transcription	Fetal Kidney	kidney
27	chr6:36508000-36512200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:36508000-36513400	Weak transcription	Brain Anterior Caudate	brain
29	chr6:36508000-36513600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:36508000-36513600	Weak transcription	Brain Substantia Nigra	brain
31	chr6:36508200-36511400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:36508200-36511400	Weak transcription	HSMMtube	muscle
33	chr6:36508200-36512000	Weak transcription	Fetal Lung	lung
34	chr6:36508200-36512200	Genic enhancers	Dnd41	blood
35	chr6:36508200-36512200	Weak transcription	HMEC	breast
36	chr6:36508200-36512400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:36508200-36512400	Weak transcription	HUVEC	blood vessel
38	chr6:36508200-36513600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:36508400-36511400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:36508400-36512000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:36508400-36512000	Weak transcription	Brain Hippocampus Middle	brain
42	chr6:36508400-36512000	Weak transcription	Fetal Muscle Leg	muscle
43	chr6:36508400-36512000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr6:36508400-36512200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr6:36508400-36512200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:36508400-36512400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:36508400-36513200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr6:36508400-36513200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr6:36508400-36513400	Weak transcription	Fetal Brain Female	brain
50	chr6:36508400-36513600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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