Variant report

Variant	rs2031940
Chromosome Location	chr14:64192304-64192305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10498511	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158502	1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158503	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158504	0.96[EUR][1000 genomes]
rs11158506	1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844499	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11845405	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11845471	0.96[EUR][1000 genomes]
rs11845514	0.82[EUR][1000 genomes]
rs11845765	0.96[EUR][1000 genomes]
rs11846081	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11847188	1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847332	1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849082	0.96[EUR][1000 genomes]
rs12147926	0.87[EUR][1000 genomes]
rs17101346	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101348	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17101355	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17101371	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101374	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2031941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742622	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4346121	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55665448	0.91[EUR][1000 genomes]
rs55706628	0.91[EUR][1000 genomes]
rs55758170	0.82[EUR][1000 genomes]
rs55763522	0.87[EUR][1000 genomes]
rs55797516	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55874427	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55919053	0.96[EUR][1000 genomes]
rs56015314	0.91[EUR][1000 genomes]
rs56021364	0.82[EUR][1000 genomes]
rs56051693	0.96[EUR][1000 genomes]
rs56060943	0.82[EUR][1000 genomes]
rs56094435	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105514	0.96[EUR][1000 genomes]
rs56113838	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56169803	0.82[EUR][1000 genomes]
rs56247501	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56280069	0.96[EUR][1000 genomes]
rs56301550	0.82[EUR][1000 genomes]
rs56342043	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56388534	0.96[EUR][1000 genomes]
rs56858295	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56973820	0.91[EUR][1000 genomes]
rs61692440	0.87[EUR][1000 genomes]
rs61984031	0.82[EUR][1000 genomes]
rs61984033	0.82[EUR][1000 genomes]
rs61984036	0.82[EUR][1000 genomes]
rs61984045	0.82[EUR][1000 genomes]
rs61984046	0.82[EUR][1000 genomes]
rs61984048	0.82[EUR][1000 genomes]
rs61984051	0.87[EUR][1000 genomes]
rs61984055	0.82[EUR][1000 genomes]
rs61985669	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985670	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985671	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985672	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985674	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985677	0.91[EUR][1000 genomes]
rs61985680	0.91[EUR][1000 genomes]
rs61985681	0.91[EUR][1000 genomes]
rs61985682	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61985687	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61985689	0.91[EUR][1000 genomes]
rs61985690	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985691	0.82[EUR][1000 genomes]
rs6573528	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573529	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7141460	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs7142737	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144490	1.00[CEU][hapmap]
rs7145740	1.00[CEU][hapmap]
rs7148755	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs7149625	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154057	1.00[JPT][hapmap]
rs7154718	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154795	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7154883	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155351	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156219	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7156468	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157815	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263634	0.91[EUR][1000 genomes]
rs73263671	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263676	0.87[EUR][1000 genomes]
rs73265705	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73265710	1.00[ASN][1000 genomes]
rs73265719	0.96[EUR][1000 genomes]
rs73265728	1.00[ASN][1000 genomes]
rs73265743	0.96[EUR][1000 genomes]
rs73267621	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73267644	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8003077	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8003101	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003314	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006901	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8010642	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012866	1.00[JPT][hapmap]
rs8013242	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8017282	0.87[EUR][1000 genomes]
rs8017835	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8018034	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018194	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018382	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018872	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019280	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8020831	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8020833	0.91[EUR][1000 genomes]
rs8020893	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9671362	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1048645	chr14:64057327-64283872	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1037824	chr14:64119493-64254025	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1044325	chr14:64142976-64201537	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64130800-64192600	Weak transcription	Right Ventricle	heart
2	chr14:64145200-64192600	Weak transcription	HSMM	muscle
3	chr14:64179200-64192400	Weak transcription	Ovary	ovary
4	chr14:64180000-64192600	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:64181000-64192400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:64181200-64192600	Weak transcription	K562	blood
7	chr14:64183000-64192600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:64184800-64192400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr14:64185000-64192400	Weak transcription	Aorta	Aorta
10	chr14:64185000-64192600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:64185000-64193400	Weak transcription	Left Ventricle	heart
12	chr14:64185400-64192400	Weak transcription	A549	lung
13	chr14:64185600-64192400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr14:64185800-64192600	Weak transcription	Colonic Mucosa	Colon
15	chr14:64186200-64193400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr14:64186400-64192400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:64186400-64192800	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:64187000-64192400	Weak transcription	Fetal Brain Female	brain
19	chr14:64187000-64193800	Weak transcription	Lung	lung
20	chr14:64187200-64192400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:64187200-64193200	Weak transcription	Fetal Intestine Small	intestine
22	chr14:64187400-64192800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:64188000-64192400	Weak transcription	Fetal Stomach	stomach
24	chr14:64188200-64192400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:64188200-64192400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:64188200-64193200	Weak transcription	Fetal Thymus	thymus
27	chr14:64188200-64193800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:64188400-64192400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:64188800-64193600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:64189600-64192400	Weak transcription	Fetal Lung	lung
31	chr14:64189600-64193800	Weak transcription	Esophagus	oesophagus
32	chr14:64189800-64192400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr14:64189800-64192400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr14:64190200-64192400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr14:64190200-64192800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:64190600-64192600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr14:64190600-64194200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr14:64190800-64192400	Enhancers	Primary B cells from cord blood	blood
39	chr14:64190800-64192400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:64190800-64192800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:64191000-64193400	Weak transcription	Small Intestine	intestine
42	chr14:64191000-64193800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:64191200-64192400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr14:64191200-64192400	Weak transcription	Brain Angular Gyrus	brain
45	chr14:64191200-64192400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:64191200-64192400	Enhancers	Fetal Brain Male	brain
47	chr14:64191200-64193800	Weak transcription	Spleen	Spleen
48	chr14:64191200-64195000	Active TSS	GM12878-XiMat	blood
49	chr14:64191200-64195200	Active TSS	Hela-S3	cervix
50	chr14:64191400-64193800	Weak transcription	Pancreas	Pancrea

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