Variant report

Variant	rs10130919
Chromosome Location	chr14:68306787-68306788
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10131048	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10132318	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10133239	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133262	0.83[GIH][hapmap]
rs10135927	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10137614	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137930	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141638	0.89[CEU][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10146380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150007	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1015023	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs1040598	0.92[MEX][hapmap];0.87[AMR][1000 genomes]
rs10483805	0.88[CEU][hapmap]
rs10873208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158693	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11158694	0.87[AMR][1000 genomes]
rs11158695	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11158697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158700	0.82[AMR][1000 genomes]
rs11158701	0.82[AMR][1000 genomes]
rs11620947	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11622521	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622535	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624166	0.86[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11626332	0.85[AMR][1000 genomes]
rs11626590	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11626594	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11626769	0.89[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11626778	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627417	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627565	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847628	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12431490	0.81[AMR][1000 genomes]
rs12432558	0.92[MEX][hapmap]
rs12433710	0.80[AMR][1000 genomes]
rs12434751	0.81[AMR][1000 genomes]
rs12586329	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12588401	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12886915	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12891047	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12891164	0.89[LWK][hapmap];0.92[MEX][hapmap];0.91[AMR][1000 genomes]
rs12892221	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12893157	0.87[AMR][1000 genomes]
rs12896666	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1543391	0.82[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes]
rs17104681	0.88[CHD][hapmap]
rs17104700	0.88[CHD][hapmap]
rs17783094	0.89[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17783124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17783160	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]
rs1810523	0.84[LWK][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs181561	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs181562	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs181563	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.87[MKK][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181564	0.81[CEU][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs181565	0.83[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes]
rs181566	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs181567	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs181570	0.81[CEU][hapmap];0.83[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs181572	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs181574	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs181575	0.92[CEU][hapmap];1.00[GIH][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs181576	0.81[CEU][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1950769	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1955470	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1956345	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]
rs1956346	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1956347	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1956348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964828	0.86[AMR][1000 genomes]
rs2235962	0.88[CEU][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.83[AMR][1000 genomes]
rs2235963	0.88[CEU][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.86[AMR][1000 genomes]
rs2235965	0.88[CEU][hapmap];0.83[AMR][1000 genomes]
rs2235966	0.87[CEU][hapmap];0.84[AMR][1000 genomes]
rs2235967	0.92[MEX][hapmap]
rs2295106	0.86[AMR][1000 genomes]
rs2295107	0.87[LWK][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs2295108	0.88[CEU][hapmap]
rs2331403	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28373844	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28604984	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28623567	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28713367	0.81[AMR][1000 genomes]
rs2874131	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2874132	0.87[LWK][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs35272075	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3742884	0.88[CHD][hapmap]
rs4143685	0.87[AMR][1000 genomes]
rs4284565	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4402486	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4569184	0.88[CEU][hapmap];0.96[GIH][hapmap]
rs4902517	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4902518	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4902519	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs55999745	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142433	0.90[AMR][1000 genomes]
rs7143496	0.82[GIH][hapmap];0.84[LWK][hapmap];0.92[MEX][hapmap];0.89[AMR][1000 genomes]
rs7143521	0.88[CHD][hapmap]
rs7149482	0.89[CEU][hapmap];0.83[GIH][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7150860	0.88[CHD][hapmap]
rs7151091	0.86[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7151495	0.87[AMR][1000 genomes]
rs7154635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157288	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7159109	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159489	0.86[AMR][1000 genomes]
rs7159622	0.91[AMR][1000 genomes]
rs7160196	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72723196	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72725103	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72725114	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72725127	0.81[AMR][1000 genomes]
rs764088	0.84[AMR][1000 genomes]
rs767972	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8003431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004611	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8006089	0.96[CEU][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8009358	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8009455	0.85[ASN][1000 genomes]
rs8010086	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8011120	0.84[CEU][hapmap];0.89[AMR][1000 genomes]
rs8011393	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs8011690	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8012974	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8017007	0.85[ASN][1000 genomes]
rs8017013	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs932554	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs932555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs961700	0.86[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs986382	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10130919	FAM71D	cis	parietal	SCAN
rs10130919	CHURC1	cis	parietal	SCAN
rs10130919	PIGH	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68287400-68312800	Weak transcription	Aorta	Aorta
2	chr14:68287400-68312800	Weak transcription	Esophagus	oesophagus
3	chr14:68287400-68315200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:68287600-68317800	Weak transcription	Spleen	Spleen
5	chr14:68287800-68310600	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:68287800-68318200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr14:68288000-68306800	Weak transcription	A549	lung
8	chr14:68291400-68312600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:68294200-68315000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:68294200-68316600	Weak transcription	Placenta	Placenta
11	chr14:68294400-68312400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:68294600-68312000	Weak transcription	Fetal Stomach	stomach
13	chr14:68294600-68312400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:68294600-68318200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:68294800-68312800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:68298200-68312800	Weak transcription	Primary T cells from cord blood	blood
17	chr14:68300600-68312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:68300600-68336200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:68301800-68312800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:68303000-68315000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr14:68303200-68311600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr14:68303200-68311600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:68303200-68315000	Weak transcription	Primary B cells from cord blood	blood
24	chr14:68303200-68318200	Weak transcription	Ovary	ovary
25	chr14:68303200-68331800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:68303400-68312000	Weak transcription	Fetal Intestine Small	intestine
27	chr14:68303800-68312800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:68305000-68312600	Weak transcription	Dnd41	blood
29	chr14:68305200-68312800	Weak transcription	Pancreas	Pancrea
30	chr14:68305600-68310000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:68306000-68311000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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