Variant report

Variant	rs2285418
Chromosome Location	chr19:36133528-36133529
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr19:36132384-36133790	K562	blood:	n/a	chr19:36133744-36133753
2	POLR2A	chr19:36133290-36134923	K562	blood:	n/a	n/a
3	MAX	chr19:36133300-36133632	K562	blood:	n/a	n/a
4	HEY1	chr19:36133435-36133701	K562	blood:	n/a	n/a
5	EP300	chr19:36133496-36133560	K562	blood:	n/a	n/a
6	MAZ	chr19:36133445-36133638	K562	blood:	n/a	n/a
7	POLR2A	chr19:36133288-36133626	GM12892	blood:	n/a	n/a
8	POLR2A	chr19:36133278-36133663	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr19:36132160-36136260	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZNF263	chr19:36133357-36135356	HEK293-T-REx	kidney:	n/a	chr19:36133665-36133674 chr19:36134816-36134825
11	ZBTB7A	chr19:36133351-36133824	K562	blood:	n/a	chr19:36133744-36133753
12	POLR2A	chr19:36133153-36136391	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35739560..35741618-chr19:36133175..36135201,2	K562	blood:
2	chr19:35772633..35774155-chr19:36132847..36134898,2	MCF-7	breast:
3	chr19:36133193..36134764-chr20:62371084..62372843,2	MCF-7	breast:
4	chr19:36118103..36121861-chr19:36131558..36136331,8	MCF-7	breast:
5	chr19:36047553..36049280-chr19:36132209..36134429,2	MCF-7	breast:
6	chr19:35758925..35762628-chr19:36133039..36136228,4	MCF-7	breast:
7	chr19:36108327..36112195-chr19:36132084..36135351,3	MCF-7	breast:
8	chr19:36118147..36121531-chr19:36133247..36136800,5	MCF-7	breast:
9	chr19:36133481..36135868-chr19:36206189..36210381,3	K562	blood:
10	chr19:35757206..35760502-chr19:36133299..36134978,3	K562	blood:
11	chr19:36034982..36037694-chr19:36132556..36134454,2	MCF-7	breast:
12	chr19:36048687..36051481-chr19:36131939..36134818,2	K562	blood:

No data

Variant related genes	Relation type
ETV2	TF binding region
ENSG00000105699	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000125520	Chromatin interaction
ENSG00000105697	Chromatin interaction
ENSG00000105698	Chromatin interaction
ENSG00000249115	Chromatin interaction
ENSG00000105675	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000126254	Chromatin interaction
ENSG00000105677	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2272538	0.88[ASN][1000 genomes]
rs2285412	0.89[ASN][1000 genomes]
rs56185035	0.94[ASN][1000 genomes]
rs57095084	0.89[ASN][1000 genomes]
rs59328743	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6510499	0.83[AMR][1000 genomes]
rs7252115	0.88[ASN][1000 genomes]
rs7252341	0.82[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2285418	COX6B1	cis	multi-tissue	Pritchard

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36120800-36134000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:36123000-36134000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:36123400-36133600	Weak transcription	Fetal Brain Male	brain
4	chr19:36124200-36134000	Weak transcription	Psoas Muscle	Psoas
5	chr19:36128000-36134000	Weak transcription	HSMM	muscle
6	chr19:36128000-36134400	Weak transcription	Fetal Kidney	kidney
7	chr19:36129000-36133600	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:36129000-36133800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr19:36129000-36133800	Weak transcription	Hela-S3	cervix
10	chr19:36129000-36134000	Weak transcription	Aorta	Aorta
11	chr19:36129000-36134000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:36129000-36134000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:36129000-36134000	Weak transcription	Brain Substantia Nigra	brain
14	chr19:36129000-36134000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr19:36129000-36134200	Weak transcription	Brain Angular Gyrus	brain
16	chr19:36129000-36134200	Weak transcription	HSMMtube	muscle
17	chr19:36129200-36133600	Weak transcription	Brain Germinal Matrix	brain
18	chr19:36129200-36134000	Weak transcription	Gastric	stomach
19	chr19:36129200-36134000	Weak transcription	Ovary	ovary
20	chr19:36129200-36134000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr19:36129400-36134000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:36129400-36134000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr19:36129400-36134000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:36129400-36134000	Weak transcription	Left Ventricle	heart
25	chr19:36129400-36134200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:36129600-36133600	Weak transcription	A549	lung
27	chr19:36129600-36133800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:36129600-36133800	Weak transcription	Brain Hippocampus Middle	brain
29	chr19:36129600-36134000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:36129600-36134000	Weak transcription	Brain Anterior Caudate	brain
31	chr19:36129600-36134000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr19:36130600-36134200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr19:36132200-36133600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr19:36132200-36133800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr19:36132200-36133800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr19:36132200-36133800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr19:36132200-36134000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr19:36132200-36134000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:36132200-36134000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:36132200-36134000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr19:36132200-36134000	Enhancers	Primary B cells from peripheral blood	blood
42	chr19:36132200-36134000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr19:36132200-36134000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr19:36132200-36134000	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr19:36132200-36134000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:36132200-36134000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:36132200-36134000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr19:36132200-36134000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr19:36132200-36134000	Enhancers	Adipose Nuclei	Adipose
50	chr19:36132200-36134000	Enhancers	HUVEC	blood vessel

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