Variant report

Variant	rs761513
Chromosome Location	chr14:68134989-68134990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67894301..67896561-chr14:68133942..68135577,2	K562	blood:
2	chr14:68132675..68135592-chr14:68137064..68139756,3	K562	blood:
3	chr14:68134983..68137070-chr14:68155296..68156947,2	MCF-7	breast:
4	chr14:68133955..68137188-chr14:68149480..68152660,3	MCF-7	breast:
5	chr14:68132783..68137458-chr14:68138173..68142358,7	MCF-7	breast:
6	chr14:68132291..68135760-chr14:68139732..68142533,5	K562	blood:

Variant related genes	Relation type
ENSG00000100568	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10459532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1059238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1120877	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11620761	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11622441	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11623700	1.00[ASW][hapmap];1.00[CEU][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];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11623711	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11623785	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11623961	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11624498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11624868	0.85[EUR][1000 genomes]
rs11625839	0.93[EUR][1000 genomes]
rs11627201	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11628860	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12050393	1.00[ASW][hapmap];1.00[CEU][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];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1555193	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17104490	0.82[ASW][hapmap];0.83[CEU][hapmap];0.95[GIH][hapmap];0.86[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs17104526	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17104544	0.82[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17104550	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17104597	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17104621	0.88[AMR][1000 genomes]
rs17249472	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17852293	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1955469	0.81[MEX][hapmap]
rs1955472	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1955473	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2234511	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2320029	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28390085	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28532066	0.82[EUR][1000 genomes]
rs28873201	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3742880	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][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];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3742881	1.00[ASW][hapmap];0.92[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742882	0.81[MEX][hapmap]
rs3742883	0.81[MEX][hapmap]
rs4899221	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4899222	1.00[ASW][hapmap];0.83[CEU][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4902506	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902508	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4902511	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4902512	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55900323	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56244142	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56256221	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60581344	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6573790	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs6573794	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6573795	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7140310	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]
rs7142897	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144076	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7144124	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7144186	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs7148327	0.83[CEU][hapmap]
rs7151205	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7151230	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs7152326	0.91[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7155788	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7159889	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72721082	0.85[EUR][1000 genomes]
rs72721090	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72723111	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72723126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72723137	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72723144	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723150	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72723152	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72723154	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72723155	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72723156	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72723158	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72723160	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72723163	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72723166	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72723167	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs742865	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs742867	0.82[LWK][hapmap]
rs761514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8009250	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8013767	1.00[ASW][hapmap];1.00[CEU][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];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8017147	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8017326	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8019831	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8020591	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs932475	0.81[MEX][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	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs761513	C14orf162	cis	parietal	SCAN
rs761513	ZBTB1	cis	cerebellum	SCAN
rs761513	RDH11	cis	Nerve Tibial	GTEx
rs761513	RDH11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68111000-68135200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:68115600-68135200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:68117000-68139400	Weak transcription	Psoas Muscle	Psoas
4	chr14:68119400-68140400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:68120800-68135400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:68123800-68139400	Weak transcription	Fetal Brain Male	brain
7	chr14:68124000-68136400	Weak transcription	Pancreas	Pancrea
8	chr14:68124000-68139600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:68124000-68140200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:68124000-68140200	Weak transcription	Right Ventricle	heart
11	chr14:68124200-68139400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:68124400-68135400	Weak transcription	Brain Germinal Matrix	brain
13	chr14:68124400-68136600	Weak transcription	Gastric	stomach
14	chr14:68124400-68138000	Weak transcription	Ovary	ovary
15	chr14:68124400-68139400	Weak transcription	Aorta	Aorta
16	chr14:68124400-68139400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:68124400-68139400	Weak transcription	Spleen	Spleen
18	chr14:68124400-68139600	Weak transcription	Colonic Mucosa	Colon
19	chr14:68124400-68140400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:68124400-68140800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:68124800-68138400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:68124800-68139200	Weak transcription	Lung	lung
23	chr14:68125000-68139600	Weak transcription	HUVEC	blood vessel
24	chr14:68125800-68138400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr14:68125800-68140200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:68126000-68139400	Weak transcription	Fetal Brain Female	brain
27	chr14:68126600-68139400	Weak transcription	Fetal Lung	lung
28	chr14:68126600-68139400	Weak transcription	Hela-S3	cervix
29	chr14:68126600-68140000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:68126800-68135200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:68126800-68135200	Weak transcription	Brain Substantia Nigra	brain
32	chr14:68126800-68135400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:68126800-68139600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:68126800-68140400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr14:68127000-68138600	Weak transcription	HepG2	liver
36	chr14:68127000-68139400	Weak transcription	NH-A	brain
37	chr14:68127200-68139400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:68127200-68139400	Weak transcription	HSMMtube	muscle
39	chr14:68127400-68139600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:68127600-68138400	Weak transcription	Esophagus	oesophagus
41	chr14:68127800-68139400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr14:68127800-68140200	Weak transcription	A549	lung
43	chr14:68128000-68135400	Weak transcription	Fetal Intestine Large	intestine
44	chr14:68128200-68138800	Weak transcription	Left Ventricle	heart
45	chr14:68128600-68140000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr14:68128800-68139400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:68129400-68139400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:68129400-68139400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:68129600-68139800	Weak transcription	Placenta	Placenta
50	chr14:68130000-68139400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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