Variant report

Variant	rs73265704
Chromosome Location	chr14:64162572-64162573
allele	C/T
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	chr14:64162474..64164920-chr14:64183303..64185230,2	MCF-7	breast:
3	chr14:64151631..64155224-chr14:64161191..64163209,3	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs28594107	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57382236	1.00[EUR][1000 genomes]
rs59574119	1.00[EUR][1000 genomes]
rs60622367	1.00[EUR][1000 genomes]
rs60770727	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61294226	1.00[EUR][1000 genomes]
rs6573526	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6573527	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7146546	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7152052	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154057	1.00[EUR][1000 genomes]
rs7154795	1.00[EUR][1000 genomes]
rs7155345	1.00[EUR][1000 genomes]
rs73263609	1.00[EUR][1000 genomes]
rs73263615	1.00[EUR][1000 genomes]
rs73263621	1.00[EUR][1000 genomes]
rs73263701	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265710	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265721	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265728	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265735	1.00[EUR][1000 genomes]
rs73265739	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73267623	1.00[EUR][1000 genomes]
rs73280648	1.00[EUR][1000 genomes]
rs73280651	1.00[EUR][1000 genomes]
rs8004836	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8010598	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8012866	1.00[EUR][1000 genomes]
rs8018439	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8018580	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8020030	1.00[EUR][1000 genomes]
rs8020691	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64109000-64183800	Weak transcription	Spleen	Spleen
2	chr14:64120600-64164200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:64126600-64163200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:64130600-64163600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr14:64130800-64192600	Weak transcription	Right Ventricle	heart
6	chr14:64137600-64180400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:64137800-64177000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:64139600-64166400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:64139800-64178200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:64140200-64165200	Weak transcription	Gastric	stomach
11	chr14:64141200-64168200	Weak transcription	Psoas Muscle	Psoas
12	chr14:64141400-64168200	Weak transcription	Aorta	Aorta
13	chr14:64141800-64167800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr14:64141800-64168200	Weak transcription	Small Intestine	intestine
15	chr14:64142000-64168200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr14:64142200-64168800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:64142400-64164000	Weak transcription	Primary B cells from cord blood	blood
18	chr14:64142800-64168200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:64143200-64180600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:64143400-64168000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:64143600-64166400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr14:64143800-64167800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:64143800-64172400	Weak transcription	A549	lung
24	chr14:64143800-64182200	Weak transcription	Fetal Lung	lung
25	chr14:64143800-64182200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:64144200-64168600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:64145000-64168200	Weak transcription	Fetal Intestine Small	intestine
28	chr14:64145200-64168000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:64145200-64168200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:64145200-64169200	Weak transcription	Lung	lung
31	chr14:64145200-64182000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:64145200-64182200	Weak transcription	Thymus	Thymus
33	chr14:64145200-64184600	Weak transcription	Left Ventricle	heart
34	chr14:64145200-64192600	Weak transcription	HSMM	muscle
35	chr14:64145400-64169200	Weak transcription	Colonic Mucosa	Colon
36	chr14:64145800-64179800	Weak transcription	Hela-S3	cervix
37	chr14:64149400-64168200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr14:64153200-64166400	Weak transcription	HUVEC	blood vessel
39	chr14:64153200-64184000	Weak transcription	Liver	Liver
40	chr14:64153400-64168200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr14:64153400-64174200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr14:64153400-64182200	Weak transcription	Adipose Nuclei	Adipose
43	chr14:64153400-64182200	Weak transcription	Dnd41	blood
44	chr14:64154000-64166600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:64154200-64179800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:64154400-64164400	Weak transcription	HSMMtube	muscle
47	chr14:64154400-64165000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:64154400-64173200	Weak transcription	NHEK	skin
49	chr14:64154600-64173400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:64154800-64184000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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