Variant report

Variant	rs2239914
Chromosome Location	chr19:36123403-36123404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36122630..36126489-chr19:36132572..36136134,4	MCF-7	breast:
2	chr19:36122571..36124876-chr19:36134444..36137720,3	MCF-7	breast:
3	chr19:36106418..36107940-chr19:36120636..36123625,2	MCF-7	breast:
4	chr19:36118444..36125285-chr19:36125367..36133017,11	MCF-7	breast:
5	chr19:36122767..36124652-chr19:36137589..36140100,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126267	Chromatin interaction
ENSG00000105672	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2285414	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2285415	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4547459	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4806180	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4806181	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4806183	0.83[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs756783	0.87[ASN][1000 genomes]
rs756784	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110747	0.84[ASW][hapmap];0.82[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs916659	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv911629	chr19:36122886-36136449	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2239914	ETV2	cis	Liver	GTEx
rs2239914	ETV2	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36120600-36129800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:36120800-36126200	Weak transcription	Right Atrium	heart
3	chr19:36120800-36129600	Strong transcription	Skeletal Muscle Male	skeletal muscle
4	chr19:36120800-36132400	Weak transcription	Fetal Heart	heart
5	chr19:36120800-36134000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:36121000-36129000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:36121000-36129600	Strong transcription	Fetal Stomach	stomach
8	chr19:36121200-36124800	Strong transcription	Right Ventricle	heart
9	chr19:36121200-36125000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr19:36121200-36125200	Strong transcription	NHEK	skin
11	chr19:36121200-36128000	Strong transcription	HSMM	muscle
12	chr19:36121200-36129000	Strong transcription	Adipose Nuclei	Adipose
13	chr19:36121200-36129200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr19:36121200-36129200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr19:36121200-36129400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:36121200-36129400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr19:36121200-36129400	Strong transcription	Liver	Liver
18	chr19:36121200-36129600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:36121200-36129600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:36121200-36129600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr19:36121200-36129600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:36121200-36129600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:36121200-36129600	Strong transcription	Fetal Thymus	thymus
24	chr19:36121400-36124600	Strong transcription	Fetal Lung	lung
25	chr19:36121400-36125600	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr19:36121400-36126400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:36121400-36129000	Strong transcription	Colonic Mucosa	Colon
28	chr19:36121400-36129000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr19:36121400-36129200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:36121400-36129200	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr19:36121400-36129200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr19:36121400-36129400	Strong transcription	Fetal Muscle Leg	muscle
33	chr19:36121400-36129600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:36121400-36129600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:36121400-36129600	Strong transcription	Fetal Intestine Large	intestine
36	chr19:36121400-36129600	Strong transcription	Fetal Intestine Small	intestine
37	chr19:36121600-36124000	Genic enhancers	Placenta	Placenta
38	chr19:36121600-36124400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
39	chr19:36121600-36124800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:36121600-36125200	Strong transcription	HMEC	breast
41	chr19:36121600-36125400	Strong transcription	Brain Cingulate Gyrus	brain
42	chr19:36121600-36125600	Strong transcription	Rectal Smooth Muscle	rectum
43	chr19:36121600-36125800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:36121600-36125800	Strong transcription	Esophagus	oesophagus
45	chr19:36121600-36125800	Strong transcription	HSMMtube	muscle
46	chr19:36121600-36126200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:36121600-36126200	Strong transcription	Brain Substantia Nigra	brain
48	chr19:36121600-36128400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:36121600-36128400	Strong transcription	NH-A	brain
50	chr19:36121600-36128800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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