Variant report

Variant	rs12886915
Chromosome Location	chr14:68242898-68242899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10130919	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]
rs10131048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133239	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10137614	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10137930	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10146380	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1015023	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1040598	0.85[CEU][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10483805	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10873208	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11158693	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.86[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]
rs11158694	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11158695	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]
rs11158697	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11621019	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs11622521	0.95[ASN][1000 genomes]
rs11622535	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11623756	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11624166	0.86[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11626594	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11626778	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11627100	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11627417	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11627565	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11844492	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11847628	0.88[CEU][hapmap];0.97[GIH][hapmap];0.80[MEX][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12432558	0.85[MEX][hapmap]
rs12433710	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs12586329	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12588401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891164	0.89[CEU][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12892221	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]
rs12893157	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12896666	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543391	0.89[CEU][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17104681	0.88[CHD][hapmap]
rs17104700	0.88[CHD][hapmap]
rs17783124	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17783160	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1810523	0.89[CEU][hapmap];0.81[GIH][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs181561	0.85[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs181562	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs181563	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs181564	0.85[CEU][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs181565	0.92[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs181566	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs181567	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs181570	0.85[CEU][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs181572	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs181574	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs181575	0.96[CEU][hapmap];0.97[GIH][hapmap];0.80[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs181576	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1950769	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1955470	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]
rs1956345	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1956346	0.88[CEU][hapmap]
rs1956347	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1956348	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1964828	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2235962	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2235963	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2235965	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2235966	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2235967	0.85[CEU][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes]
rs2295106	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2295107	0.89[CEU][hapmap];0.81[GIH][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2295108	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28373844	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28604984	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28623567	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2874131	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];0.99[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]
rs2874132	0.89[CEU][hapmap];0.81[GIH][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3742884	0.88[CHD][hapmap]
rs4143685	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4569184	1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4902517	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]
rs4902518	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55999745	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7142433	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7143496	0.89[CEU][hapmap];0.84[GIH][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7143521	0.88[CHD][hapmap]
rs7149482	0.84[MEX][hapmap]
rs7150860	0.88[CHD][hapmap]
rs7151091	0.86[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7154635	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7157288	0.83[ASN][1000 genomes]
rs7159109	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7159622	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7159982	0.85[EUR][1000 genomes]
rs7160196	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs767972	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]
rs8003431	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8006089	0.85[CEU][hapmap];0.97[GIH][hapmap]
rs8009358	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8009455	0.81[ASN][1000 genomes]
rs8011120	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8011393	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs8017007	0.81[ASN][1000 genomes]
rs8017013	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8018709	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs932554	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs932555	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs961700	0.86[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs986382	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12886915	FAM71D	cis	parietal	SCAN
rs12886915	CHURC1	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68206200-68251000	Weak transcription	K562	blood
2	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:68213000-68280800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:68213200-68243200	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:68213400-68281200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:68213600-68279600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:68213800-68280600	Strong transcription	Liver	Liver
8	chr14:68214000-68258200	Strong transcription	Brain Germinal Matrix	brain
9	chr14:68214600-68281000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:68214800-68266800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:68214800-68276200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr14:68214800-68280200	Strong transcription	Fetal Thymus	thymus
13	chr14:68216600-68267200	Strong transcription	Fetal Stomach	stomach
14	chr14:68220000-68251200	Strong transcription	Fetal Muscle Trunk	muscle
15	chr14:68220200-68273000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:68223800-68257600	Strong transcription	Stomach Smooth Muscle	stomach
17	chr14:68224200-68244000	Strong transcription	Fetal Muscle Leg	muscle
18	chr14:68224800-68281000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:68225000-68281000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:68226000-68248800	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:68226000-68257600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr14:68226200-68257600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:68226200-68257600	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr14:68226200-68281000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:68226400-68257600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:68226400-68257600	Strong transcription	Brain Anterior Caudate	brain
27	chr14:68226400-68257600	Strong transcription	Brain Cingulate Gyrus	brain
28	chr14:68226400-68257600	Strong transcription	Brain Hippocampus Middle	brain
29	chr14:68226400-68257600	Strong transcription	Fetal Lung	lung
30	chr14:68226400-68257600	Strong transcription	Ovary	ovary
31	chr14:68226400-68257800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:68226400-68257800	Strong transcription	Primary T cells from cord blood	blood
33	chr14:68226400-68258000	Strong transcription	Dnd41	blood
34	chr14:68226400-68258400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:68226400-68258600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:68226400-68262200	Strong transcription	Fetal Brain Female	brain
37	chr14:68226400-68272800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:68226400-68273200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:68226400-68276000	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr14:68226400-68277800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:68226400-68278200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:68226400-68279800	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr14:68226400-68280600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr14:68226400-68280800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:68226400-68280800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr14:68226400-68281000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr14:68226600-68251600	Strong transcription	Left Ventricle	heart
48	chr14:68226600-68251800	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr14:68226600-68257600	Strong transcription	Thymus	Thymus
50	chr14:68226800-68257600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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