Variant report

Variant	rs6794067
Chromosome Location	chr3:119365696-119365697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119361516..119364108-chr3:119364269..119367239,2	K562	blood:
2	chr3:119365198..119367042-chr3:119394724..119396860,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138495	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12023	0.89[GIH][hapmap];0.88[MEX][hapmap]
rs13062697	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13091305	0.82[TSI][hapmap]
rs13095802	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13323756	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17281793	0.82[EUR][1000 genomes]
rs2293235	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2319013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2873788	0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs34775086	0.91[GIH][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.82[EUR][1000 genomes]
rs6773852	0.81[EUR][1000 genomes]
rs6786295	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6789504	0.81[EUR][1000 genomes]
rs6792223	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71325390	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9810361	0.81[EUR][1000 genomes]
rs9822052	0.82[EUR][1000 genomes]
rs9835803	0.97[ASN][1000 genomes]
rs9837943	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9865825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9873256	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9873609	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1014394	chr3:119360506-119412275	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6794067	COX17	cis	lymphoblastoid	seeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119349800-119378800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:119352000-119378600	Weak transcription	Thymus	Thymus
3	chr3:119352600-119367000	Weak transcription	Ovary	ovary
4	chr3:119354000-119387600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:119356200-119389000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:119356800-119390000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:119356800-119391800	Weak transcription	Brain Substantia Nigra	brain
8	chr3:119356800-119391800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:119357200-119383800	Weak transcription	Primary B cells from cord blood	blood
10	chr3:119357800-119366600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr3:119357800-119367000	Weak transcription	Fetal Intestine Large	intestine
12	chr3:119357800-119386400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:119358000-119371200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:119358000-119390600	Weak transcription	Brain Anterior Caudate	brain
15	chr3:119358000-119391800	Weak transcription	Colonic Mucosa	Colon
16	chr3:119358200-119366200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:119358200-119372600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:119358400-119366800	Weak transcription	Esophagus	oesophagus
19	chr3:119358400-119367000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:119358400-119376600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:119358600-119366600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr3:119358600-119371600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr3:119358600-119372400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:119358600-119376800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr3:119360400-119366600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:119360800-119367800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:119361200-119365800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:119361200-119366800	Weak transcription	Pancreas	Pancrea
29	chr3:119361200-119367000	Weak transcription	Gastric	stomach
30	chr3:119361200-119369000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:119361200-119378800	Weak transcription	Fetal Thymus	thymus
32	chr3:119361200-119394400	Weak transcription	Brain Angular Gyrus	brain
33	chr3:119361400-119366200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr3:119361400-119366200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr3:119361400-119366800	Weak transcription	Spleen	Spleen
36	chr3:119361400-119372600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr3:119361400-119378800	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:119361600-119366800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr3:119362000-119366200	Weak transcription	Fetal Intestine Small	intestine
40	chr3:119362000-119366600	Weak transcription	Fetal Stomach	stomach
41	chr3:119362000-119366800	Weak transcription	GM12878-XiMat	blood
42	chr3:119362200-119365800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:119362200-119366000	Weak transcription	Aorta	Aorta
44	chr3:119362200-119367000	Weak transcription	Lung	lung
45	chr3:119362200-119371400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr3:119362400-119366600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr3:119362400-119368600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:119362400-119387400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:119362600-119365800	Weak transcription	HUVEC	blood vessel
50	chr3:119362600-119366000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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