Variant report

Variant	rs9323508
Chromosome Location	chr14:68890110-68890111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1006816	0.82[CHB][hapmap]
rs10132294	0.89[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10138140	0.93[GIH][hapmap];0.80[JPT][hapmap]
rs10146772	0.91[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10162434	0.91[JPT][hapmap]
rs10467820	0.93[GIH][hapmap];0.81[JPT][hapmap]
rs10873213	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11158743	0.82[JPT][hapmap]
rs12886864	0.93[GIH][hapmap];0.81[JPT][hapmap]
rs1468279	0.83[ASW][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap]
rs1956534	0.84[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap]
rs1956537	0.82[CHB][hapmap]
rs2074563	0.83[ASW][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap]
rs2074565	0.93[GIH][hapmap];0.81[JPT][hapmap]
rs2097800	0.83[ASW][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap]
rs2107340	0.81[JPT][hapmap]
rs2331701	0.82[JPT][hapmap]
rs3784120	0.82[CHB][hapmap]
rs4902579	0.83[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4902583	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs4902584	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs5004090	0.81[JPT][hapmap]
rs6573837	0.81[JPT][hapmap]
rs746663	0.86[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs8012610	0.95[CHB][hapmap];1.00[JPT][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9323508	KIAA0247	cis	parietal	SCAN
rs9323508	ACTN1	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68877200-68890600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:68881000-68890600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:68882400-68893400	Weak transcription	Fetal Intestine Small	intestine
4	chr14:68884000-68890200	Weak transcription	Primary B cells from cord blood	blood
5	chr14:68884200-68890800	Weak transcription	Colon Smooth Muscle	Colon
6	chr14:68885200-68893600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:68886000-68890600	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:68886200-68894800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:68886600-68903200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:68887800-68890600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:68887800-68890800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:68888000-68891000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:68888000-68893400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:68888000-68901000	Weak transcription	Primary T cells from cord blood	blood
15	chr14:68888200-68891800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:68888200-68892600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:68888200-68893200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:68888800-68893600	Weak transcription	Lung	lung
19	chr14:68889000-68893600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:68890000-68891000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr14:68890000-68891000	Enhancers	Primary B cells from peripheral blood	blood

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