Variant report

Variant	rs10467820
Chromosome Location	chr14:68919016-68919017
allele	A/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:68874422..68876560-chr14:68917210..68919042,2	MCF-7	breast:
2	chr14:68883175..68885283-chr14:68918450..68920761,2	MCF-7	breast:
3	chr14:68917244..68919949-chr14:68930755..68933686,2	MCF-7	breast:
4	chr14:68916802..68919938-chr14:68924497..68927794,5	MCF-7	breast:
5	chr14:68868560..68870207-chr14:68918172..68920356,2	MCF-7	breast:
6	chr14:68917252..68919453-chr14:68919984..68923283,3	MCF-7	breast:
7	chr14:68719926..68722886-chr14:68917535..68919411,2	MCF-7	breast:
8	chr14:68914099..68917436-chr14:68918441..68922631,3	K562	blood:
9	chr14:68918175..68920737-chr14:68921753..68924276,3	K562	blood:
10	chr14:68917247..68930048-chr14:69249444..69264210,56	MCF-7	breast:
11	chr14:68914261..68916800-chr14:68917548..68919754,2	MCF-7	breast:
12	chr14:68918630..68920344-chr14:68927220..68929899,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10130683	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10133813	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10135247	0.82[JPT][hapmap]
rs10136055	0.82[JPT][hapmap]
rs10138140	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10139107	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs10146058	0.85[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs10146772	0.88[CEU][hapmap];0.93[GIH][hapmap];0.94[MEX][hapmap]
rs10148720	0.83[ASN][1000 genomes]
rs10149340	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10149349	0.84[EUR][1000 genomes]
rs10782456	0.81[ASN][1000 genomes]
rs12435914	0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs12587397	0.89[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs12886429	0.87[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs12886864	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1468279	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1956534	0.96[GIH][hapmap];0.81[MEX][hapmap]
rs2040783	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2074562	0.84[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2074563	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074564	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074565	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2093202	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2097800	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2107340	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2331701	0.96[CEU][hapmap]
rs2717217	0.82[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2842322	0.80[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs3784122	0.82[JPT][hapmap]
rs3784123	0.82[JPT][hapmap]
rs3784124	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4411448	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902594	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902595	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs4902596	0.82[ASN][1000 genomes]
rs5004090	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61986936	0.83[ASN][1000 genomes]
rs6573837	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs746663	0.96[CEU][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap]
rs8012610	0.88[CEU][hapmap];0.81[JPT][hapmap]
rs9323508	0.93[GIH][hapmap];0.81[JPT][hapmap]
rs9323512	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[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	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
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10467820	MAP3K9	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68911800-68921200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:68915400-68924800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:68915600-68925400	Weak transcription	Colonic Mucosa	Colon
4	chr14:68916000-68919400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:68916000-68919600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:68916200-68919200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:68916600-68921200	Weak transcription	Primary B cells from cord blood	blood
8	chr14:68916600-68924800	Weak transcription	Fetal Kidney	kidney
9	chr14:68916800-68925600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:68918000-68921200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:68918200-68919400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:68918200-68919400	Enhancers	Liver	Liver
13	chr14:68918600-68919400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:68918600-68921200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:68918600-68921200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:68918600-68921200	Weak transcription	Colon Smooth Muscle	Colon
17	chr14:68918600-68925600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:68918800-68919400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:68918800-68921200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:68918800-68921200	Weak transcription	Fetal Lung	lung
21	chr14:68918800-68921200	Weak transcription	A549	lung
22	chr14:68918800-68921400	Weak transcription	Psoas Muscle	Psoas
23	chr14:68918800-68924600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:68918800-68925600	Weak transcription	Left Ventricle	heart
25	chr14:68919000-68921200	Weak transcription	Aorta	Aorta
26	chr14:68919000-68924800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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