Variant report

Variant	rs12587397
Chromosome Location	chr14:68920095-68920096
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68883175..68885283-chr14:68918450..68920761,2	MCF-7	breast:
2	chr14:68919841..68921381-chr7:69620883..69622403,2	K562	blood:
3	chr14:68868560..68870207-chr14:68918172..68920356,2	MCF-7	breast:
4	chr14:68917252..68919453-chr14:68919984..68923283,3	MCF-7	breast:
5	chr14:68914099..68917436-chr14:68918441..68922631,3	K562	blood:
6	chr14:68918175..68920737-chr14:68921753..68924276,3	K562	blood:
7	chr14:68917247..68930048-chr14:69249444..69264210,56	MCF-7	breast:
8	chr14:68918630..68920344-chr14:68927220..68929899,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10130683	0.83[ASN][1000 genomes]
rs10132294	0.90[GIH][hapmap];0.81[JPT][hapmap]
rs10133813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10135247	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10136055	0.89[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.83[ASN][1000 genomes]
rs10138140	0.89[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10139107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142629	0.83[ASN][1000 genomes]
rs10146058	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10146321	0.84[GIH][hapmap]
rs10148720	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149340	0.80[ASN][1000 genomes]
rs10162434	0.81[JPT][hapmap]
rs10467820	0.89[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs10782456	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11158743	0.89[GIH][hapmap]
rs12435914	0.82[JPT][hapmap]
rs12886429	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.96[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12886864	0.89[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12889666	0.80[MEX][hapmap]
rs12889770	0.80[MEX][hapmap]
rs1468279	0.89[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2040783	0.82[ASN][1000 genomes]
rs2074562	0.82[JPT][hapmap]
rs2074563	0.89[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2074564	0.84[ASN][1000 genomes]
rs2074565	0.88[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2093202	0.84[ASN][1000 genomes]
rs2097800	0.89[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2107340	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2717217	0.82[JPT][hapmap]
rs2753404	0.81[JPT][hapmap]
rs2842318	0.86[ASN][1000 genomes]
rs2842322	0.82[JPT][hapmap]
rs3784122	0.81[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.83[ASN][1000 genomes]
rs3784123	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs3784124	0.84[ASN][1000 genomes]
rs4411448	0.82[ASN][1000 genomes]
rs4899242	0.81[ASN][1000 genomes]
rs4902590	0.83[ASN][1000 genomes]
rs4902591	0.83[ASN][1000 genomes]
rs4902592	0.84[ASN][1000 genomes]
rs4902595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902596	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5004090	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6573837	0.91[JPT][hapmap];0.83[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
rs12587397	KIAA0247	cis	cerebellum	SCAN

Chromatin state (count:19 , 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	chr14:68916600-68921200	Weak transcription	Primary B cells from cord blood	blood
5	chr14:68916600-68924800	Weak transcription	Fetal Kidney	kidney
6	chr14:68916800-68925600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:68918000-68921200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:68918600-68921200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:68918600-68921200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:68918600-68921200	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:68918600-68925600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:68918800-68921200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:68918800-68921200	Weak transcription	Fetal Lung	lung
14	chr14:68918800-68921200	Weak transcription	A549	lung
15	chr14:68918800-68921400	Weak transcription	Psoas Muscle	Psoas
16	chr14:68918800-68924600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:68918800-68925600	Weak transcription	Left Ventricle	heart
18	chr14:68919000-68921200	Weak transcription	Aorta	Aorta
19	chr14:68919000-68924800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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