Variant report

Variant	rs7140310
Chromosome Location	chr14:68110737-68110738
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:68110623-68110801	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:68110626-68110877	MCF-7	breast:	n/a	n/a
3	POLR2A	chr14:68109679-68111355	K562	blood:	n/a	n/a
4	BATF	chr14:68110509-68110772	GM12878	blood:	n/a	n/a
5	ZNF384	chr14:68110392-68110818	K562	blood:	n/a	n/a
6	ZNF384	chr14:68110457-68110816	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:68110692-68110780	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68109490..68111866-chr14:68118643..68121450,2	K562	blood:
2	chr14:68107571..68111399-chr14:68112560..68116097,6	K562	blood:

Variant related genes	Relation type
ARG2	TF binding region
ENSG00000081181	Chromatin interaction
ENSG00000258626	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10459532	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1059238	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1120877	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11620761	0.88[EUR][1000 genomes]
rs11622441	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11623700	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11623711	0.84[EUR][1000 genomes]
rs11623785	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11623961	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11624498	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11624868	0.85[EUR][1000 genomes]
rs11625839	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11627201	0.85[EUR][1000 genomes]
rs11628860	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12050393	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.99[EUR][1000 genomes]
rs1555193	1.00[CEU][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.86[EUR][1000 genomes]
rs17104490	0.83[CEU][hapmap];0.95[GIH][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs17104526	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17104544	1.00[CEU][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17104550	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17104597	0.96[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17249472	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1955472	0.85[EUR][1000 genomes]
rs1955473	0.85[EUR][1000 genomes]
rs2234511	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2320029	0.92[CEU][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.85[EUR][1000 genomes]
rs28390085	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28532066	0.82[EUR][1000 genomes]
rs28873201	0.88[EUR][1000 genomes]
rs3742880	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3742881	0.92[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.98[EUR][1000 genomes]
rs4899221	0.81[EUR][1000 genomes]
rs4899222	0.83[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap]
rs4902506	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4902508	0.98[EUR][1000 genomes]
rs4902511	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs4902512	0.85[EUR][1000 genomes]
rs55900323	0.86[EUR][1000 genomes]
rs56244142	0.98[EUR][1000 genomes]
rs56256221	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60581344	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6573790	0.91[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap]
rs6573794	0.86[EUR][1000 genomes]
rs6573795	0.85[EUR][1000 genomes]
rs7142897	0.98[EUR][1000 genomes]
rs7144076	0.85[EUR][1000 genomes]
rs7144124	0.82[EUR][1000 genomes]
rs7144186	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs7148327	0.83[CEU][hapmap]
rs7151205	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7151230	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs7152326	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7155788	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7159889	0.86[EUR][1000 genomes]
rs72721082	0.85[EUR][1000 genomes]
rs72721090	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72723111	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72723115	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72723122	0.98[EUR][1000 genomes]
rs72723126	0.98[EUR][1000 genomes]
rs72723137	0.98[EUR][1000 genomes]
rs72723144	0.98[EUR][1000 genomes]
rs72723150	0.88[EUR][1000 genomes]
rs72723152	0.85[EUR][1000 genomes]
rs72723154	0.86[EUR][1000 genomes]
rs72723155	0.85[EUR][1000 genomes]
rs72723156	0.85[EUR][1000 genomes]
rs72723158	0.85[EUR][1000 genomes]
rs72723160	0.86[EUR][1000 genomes]
rs72723163	0.86[EUR][1000 genomes]
rs72723166	0.86[EUR][1000 genomes]
rs72723167	0.87[EUR][1000 genomes]
rs761513	1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.98[EUR][1000 genomes]
rs761514	0.99[EUR][1000 genomes]
rs8009250	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8013767	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8017147	0.86[EUR][1000 genomes]
rs8017326	0.82[EUR][1000 genomes]
rs8019831	0.96[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs8020591	1.00[CEU][hapmap];0.88[EUR][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	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7140310	C14orf162	cis	parietal	SCAN
rs7140310	RDH11	Cis_1M	lymphoblastoid	RTeQTL
rs7140310	ZBTB1	cis	cerebellum	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68087200-68112400	Weak transcription	Aorta	Aorta
2	chr14:68087800-68112000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:68088000-68112400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:68088000-68112400	Weak transcription	Brain Angular Gyrus	brain
5	chr14:68088000-68112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:68088800-68123000	Weak transcription	Fetal Brain Male	brain
7	chr14:68089400-68112200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:68089600-68116200	Weak transcription	Fetal Kidney	kidney
9	chr14:68089800-68113400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:68090000-68114800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:68090000-68115800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:68090200-68111000	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:68090200-68112000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:68090200-68112200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:68090200-68112400	Weak transcription	Brain Anterior Caudate	brain
16	chr14:68090400-68112200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr14:68090800-68111200	Weak transcription	HUVEC	blood vessel
18	chr14:68090800-68111800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:68090800-68112200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:68091800-68111000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:68091800-68112200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:68091800-68116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:68092000-68112400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:68096600-68112400	Weak transcription	HepG2	liver
25	chr14:68100000-68112200	Weak transcription	Pancreas	Pancrea
26	chr14:68100600-68114600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:68100800-68112200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:68100800-68112200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:68101600-68114200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr14:68101800-68112200	Weak transcription	Placenta	Placenta
31	chr14:68102000-68112200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:68103400-68112800	Weak transcription	HSMMtube	muscle
33	chr14:68103600-68111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:68103600-68112200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:68103600-68112200	Weak transcription	Primary T cells from cord blood	blood
36	chr14:68103600-68112400	Weak transcription	Brain Hippocampus Middle	brain
37	chr14:68103800-68111200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:68103800-68111400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:68103800-68112200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:68105800-68110800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr14:68105800-68112200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:68105800-68112800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr14:68106000-68113200	Weak transcription	Psoas Muscle	Psoas
44	chr14:68106000-68114800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr14:68106200-68112400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr14:68106800-68113000	Weak transcription	NH-A	brain
47	chr14:68107600-68112200	Weak transcription	Thymus	Thymus
48	chr14:68107600-68115400	Weak transcription	NHLF	lung
49	chr14:68107800-68112000	Weak transcription	Esophagus	oesophagus
50	chr14:68108400-68112200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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