Variant report

Variant	rs8019592
Chromosome Location	chr14:68863020-68863021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68859762..68864000-chr14:68864300..68866609,3	K562	blood:
2	chr14:68862313..68866033-chr14:69260307..69264039,7	MCF-7	breast:
3	chr14:68605654..68608460-chr14:68861850..68864803,2	MCF-7	breast:
4	chr14:68858725..68872867-chr14:69250734..69263104,36	MCF-7	breast:
5	chr14:68861164..68863928-chr14:68868911..68870731,2	K562	blood:
6	chr14:68407825..68409663-chr14:68862342..68864207,2	MCF-7	breast:
7	chr14:68862930..68865913-chr14:68933149..68936719,4	MCF-7	breast:
8	chr14:68712152..68714666-chr14:68861670..68863441,2	MCF-7	breast:
9	chr14:68862987..68864595-chr14:68942546..68944061,2	MCF-7	breast:
10	chr14:68862766..68869873-chr14:69251663..69259874,10	MCF-7	breast:
11	chr14:68829073..68831953-chr14:68862651..68864586,2	MCF-7	breast:
12	chr14:68863006..68865932-chr14:69077018..69079780,3	MCF-7	breast:
13	chr11:62623040..62625036-chr14:68860166..68863068,2	MCF-7	breast:
14	chr14:68773029..68777937-chr14:68858584..68866534,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000255717	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10747299	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11158737	1.00[JPT][hapmap]
rs11158742	1.00[JPT][hapmap]
rs12435006	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12588330	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12897307	1.00[JPT][hapmap]
rs17755674	1.00[JPT][hapmap]
rs1956538	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2064910	1.00[JPT][hapmap]
rs2331703	0.85[CHD][hapmap];0.85[GIH][hapmap]
rs2331704	0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs2525507	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs2753403	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs2842320	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs3784118	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3966077	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4899241	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899243	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs4902571	0.83[GIH][hapmap]
rs4902578	1.00[JPT][hapmap]
rs4902580	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4902581	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4902587	1.00[JPT][hapmap]
rs4902588	1.00[JPT][hapmap]
rs4902589	1.00[JPT][hapmap]
rs7145422	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7152152	0.83[GIH][hapmap]
rs7154175	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8003606	1.00[CHB][hapmap]
rs8013184	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8015516	0.85[GIH][hapmap]
rs9323510	1.00[JPT][hapmap]
rs975422	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8019592	MAP3K9	cis	parietal	SCAN
rs8019592	CHURC1	cis	parietal	SCAN
rs8019592	MED6	cis	cerebellum	SCAN
rs8019592	UPF0639	cis	cerebellum	SCAN
rs8019592	EIF2S1	cis	cerebellum	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68852200-68864200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:68854400-68863800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:68856600-68865400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:68857000-68865800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr14:68857200-68863200	Enhancers	Fetal Muscle Leg	muscle
6	chr14:68858000-68865200	Enhancers	NHLF	lung
7	chr14:68858000-68865800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:68858200-68865600	Enhancers	Placenta	Placenta
9	chr14:68858400-68865200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:68858600-68864200	Weak transcription	Pancreas	Pancrea
11	chr14:68858800-68865600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:68859000-68865400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:68859000-68865800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:68859200-68865200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:68859600-68863800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:68859600-68864400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:68859800-68863600	Weak transcription	HepG2	liver
18	chr14:68859800-68864000	Weak transcription	HSMMtube	muscle
19	chr14:68859800-68871400	Weak transcription	Gastric	stomach
20	chr14:68860000-68863800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:68860000-68863800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr14:68860000-68863800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:68860200-68863200	Enhancers	Fetal Lung	lung
24	chr14:68860600-68863200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:68860600-68863600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr14:68860600-68864600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:68860600-68865600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:68860800-68863200	Enhancers	Ovary	ovary
29	chr14:68860800-68863800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:68860800-68864000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:68860800-68865000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr14:68860800-68865400	Enhancers	NHDF-Ad	bronchial
33	chr14:68861000-68865400	Enhancers	Osteobl	bone
34	chr14:68861200-68863600	Weak transcription	Primary B cells from cord blood	blood
35	chr14:68861200-68863600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr14:68861200-68866400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr14:68861200-68869400	Weak transcription	Liver	Liver
38	chr14:68861600-68863600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:68861600-68863800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr14:68861600-68864200	Weak transcription	Small Intestine	intestine
41	chr14:68861800-68863800	Weak transcription	Spleen	Spleen
42	chr14:68861800-68864600	Weak transcription	Stomach Mucosa	stomach
43	chr14:68861800-68866800	Weak transcription	Psoas Muscle	Psoas
44	chr14:68861800-68871400	Weak transcription	Right Ventricle	heart
45	chr14:68862000-68864000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr14:68862000-68864000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr14:68862000-68864000	Weak transcription	Fetal Thymus	thymus
48	chr14:68862000-68864200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:68862000-68864200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr14:68862000-68864200	Weak transcription	Esophagus	oesophagus

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