Variant report

Variant	rs17101371
Chromosome Location	chr14:64165826-64165827
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64161006..64163776-chr14:64164012..64166616,2	K562	blood:
2	chr14:64165066..64167025-chr14:64168024..64169735,2	MCF-7	breast:
3	chr14:64156400..64158030-chr14:64165092..64167701,2	MCF-7	breast:

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10498511	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158497	0.87[EUR][1000 genomes]
rs11158502	1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158503	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158504	0.87[EUR][1000 genomes]
rs11158506	1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844499	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11845405	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs11845471	0.87[EUR][1000 genomes]
rs11845514	0.91[EUR][1000 genomes]
rs11845765	0.87[EUR][1000 genomes]
rs11846081	1.00[EUR][1000 genomes]
rs11847033	0.87[EUR][1000 genomes]
rs11847188	1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847332	1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849082	0.87[EUR][1000 genomes]
rs11850853	0.87[EUR][1000 genomes]
rs12147764	0.83[EUR][1000 genomes]
rs12147926	0.96[EUR][1000 genomes]
rs17101346	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101348	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17101355	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17101374	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2031940	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2031941	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742622	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4346121	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55665448	1.00[EUR][1000 genomes]
rs55706628	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55758170	0.91[EUR][1000 genomes]
rs55763522	0.96[EUR][1000 genomes]
rs55797516	1.00[EUR][1000 genomes]
rs55874427	1.00[EUR][1000 genomes]
rs55919053	0.87[EUR][1000 genomes]
rs56015314	0.82[EUR][1000 genomes]
rs56021364	0.91[EUR][1000 genomes]
rs56051693	0.87[EUR][1000 genomes]
rs56060943	0.91[EUR][1000 genomes]
rs56094435	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105514	0.87[EUR][1000 genomes]
rs56113838	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56169803	0.91[EUR][1000 genomes]
rs56247501	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56280069	0.87[EUR][1000 genomes]
rs56301550	0.91[EUR][1000 genomes]
rs56342043	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56388534	0.87[EUR][1000 genomes]
rs56858295	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56973820	1.00[EUR][1000 genomes]
rs59420981	0.87[EUR][1000 genomes]
rs61692440	0.96[EUR][1000 genomes]
rs61984029	0.87[EUR][1000 genomes]
rs61984031	0.91[EUR][1000 genomes]
rs61984033	0.91[EUR][1000 genomes]
rs61984036	0.91[EUR][1000 genomes]
rs61984044	0.87[EUR][1000 genomes]
rs61984045	0.91[EUR][1000 genomes]
rs61984046	0.91[EUR][1000 genomes]
rs61984048	0.91[EUR][1000 genomes]
rs61984051	0.96[EUR][1000 genomes]
rs61984055	0.91[EUR][1000 genomes]
rs61985669	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985670	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985671	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985672	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985674	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985677	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985680	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985681	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61985682	1.00[EUR][1000 genomes]
rs61985687	1.00[EUR][1000 genomes]
rs61985689	1.00[EUR][1000 genomes]
rs61985690	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985691	0.91[EUR][1000 genomes]
rs6573528	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573529	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7141460	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7142737	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144490	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7145740	1.00[CEU][hapmap]
rs7148755	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7149625	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154057	1.00[JPT][hapmap]
rs7154718	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154795	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7154883	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155351	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156219	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7156468	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157815	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263634	1.00[EUR][1000 genomes]
rs73263671	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73263676	0.96[EUR][1000 genomes]
rs73265705	1.00[EUR][1000 genomes]
rs73265710	1.00[ASN][1000 genomes]
rs73265719	0.87[EUR][1000 genomes]
rs73265728	1.00[ASN][1000 genomes]
rs73265743	0.87[EUR][1000 genomes]
rs73267621	0.91[EUR][1000 genomes]
rs8003077	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs8003101	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003314	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006901	0.91[EUR][1000 genomes]
rs8010642	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012866	1.00[JPT][hapmap]
rs8013242	1.00[EUR][1000 genomes]
rs8017282	0.96[EUR][1000 genomes]
rs8017835	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8018034	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018194	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018382	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018872	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019280	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8020831	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs8020833	1.00[EUR][1000 genomes]
rs8020893	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9671362	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3432445	chr14:64162248-64191918	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64109000-64183800	Weak transcription	Spleen	Spleen
2	chr14:64130800-64192600	Weak transcription	Right Ventricle	heart
3	chr14:64137600-64180400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:64137800-64177000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:64139600-64166400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr14:64139800-64178200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:64141200-64168200	Weak transcription	Psoas Muscle	Psoas
8	chr14:64141400-64168200	Weak transcription	Aorta	Aorta
9	chr14:64141800-64167800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr14:64141800-64168200	Weak transcription	Small Intestine	intestine
11	chr14:64142000-64168200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr14:64142200-64168800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:64142800-64168200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:64143200-64180600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:64143400-64168000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:64143600-64166400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr14:64143800-64167800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:64143800-64172400	Weak transcription	A549	lung
19	chr14:64143800-64182200	Weak transcription	Fetal Lung	lung
20	chr14:64143800-64182200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:64144200-64168600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:64145000-64168200	Weak transcription	Fetal Intestine Small	intestine
23	chr14:64145200-64168000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr14:64145200-64168200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr14:64145200-64169200	Weak transcription	Lung	lung
26	chr14:64145200-64182000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:64145200-64182200	Weak transcription	Thymus	Thymus
28	chr14:64145200-64184600	Weak transcription	Left Ventricle	heart
29	chr14:64145200-64192600	Weak transcription	HSMM	muscle
30	chr14:64145400-64169200	Weak transcription	Colonic Mucosa	Colon
31	chr14:64145800-64179800	Weak transcription	Hela-S3	cervix
32	chr14:64149400-64168200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:64153200-64166400	Weak transcription	HUVEC	blood vessel
34	chr14:64153200-64184000	Weak transcription	Liver	Liver
35	chr14:64153400-64168200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr14:64153400-64174200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:64153400-64182200	Weak transcription	Adipose Nuclei	Adipose
38	chr14:64153400-64182200	Weak transcription	Dnd41	blood
39	chr14:64154000-64166600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:64154200-64179800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:64154400-64173200	Weak transcription	NHEK	skin
42	chr14:64154600-64173400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:64154800-64184000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:64157600-64178200	Weak transcription	Fetal Muscle Leg	muscle
45	chr14:64159600-64167800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:64159800-64167600	Weak transcription	Osteobl	bone
47	chr14:64159800-64169200	Weak transcription	Placenta	Placenta
48	chr14:64160200-64168200	Weak transcription	Primary T cells from cord blood	blood
49	chr14:64160800-64167600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr14:64160800-64168200	Weak transcription	GM12878-XiMat	blood

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