Variant report

Variant	rs73278096
Chromosome Location	chr14:65820248-65820249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65801912..65803776-chr14:65819342..65822288,2	MCF-7	breast:
2	chr14:65692463..65695041-chr14:65818683..65822827,3	MCF-7	breast:
3	chr14:65813667..65817419-chr14:65818159..65821659,6	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs17102600	0.84[AFR][1000 genomes]
rs56921348	0.84[AFR][1000 genomes]
rs57134875	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57309452	0.91[AFR][1000 genomes]
rs58794139	0.91[AFR][1000 genomes]
rs58832122	1.00[AMR][1000 genomes]
rs59515554	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59633486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61155946	1.00[AMR][1000 genomes]
rs61226824	1.00[AMR][1000 genomes]
rs73278046	0.84[AFR][1000 genomes]
rs73278048	1.00[AFR][1000 genomes]
rs73278079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280130	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280134	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282270	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282279	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282289	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282292	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282299	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282301	1.00[AMR][1000 genomes]
rs73282302	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284108	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284134	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284147	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284154	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284161	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284170	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284186	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286112	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8016432	1.00[AMR][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	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65803400-65821000	Weak transcription	Esophagus	oesophagus
2	chr14:65812000-65822800	Weak transcription	Gastric	stomach
3	chr14:65813800-65821200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:65813800-65823600	Weak transcription	Thymus	Thymus
5	chr14:65814000-65821400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:65814000-65823400	Weak transcription	Small Intestine	intestine
7	chr14:65814000-65824800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:65814200-65822200	Weak transcription	Primary T cells from cord blood	blood
9	chr14:65814800-65820800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:65814800-65823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:65815400-65821200	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:65815400-65824000	Weak transcription	Brain Angular Gyrus	brain
13	chr14:65816000-65821200	Weak transcription	Pancreas	Pancrea
14	chr14:65816000-65822800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:65816600-65820600	Weak transcription	Fetal Intestine Large	intestine
16	chr14:65816800-65821200	Enhancers	Primary B cells from cord blood	blood
17	chr14:65816800-65828000	Enhancers	Primary B cells from peripheral blood	blood
18	chr14:65817200-65821000	Weak transcription	Fetal Intestine Small	intestine
19	chr14:65818000-65823400	Enhancers	GM12878-XiMat	blood
20	chr14:65819600-65820400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:65819600-65820400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr14:65819600-65823200	Enhancers	Hela-S3	cervix
23	chr14:65819600-65823400	Enhancers	HMEC	breast
24	chr14:65819600-65823400	Enhancers	NHEK	skin
25	chr14:65819600-65823600	Enhancers	Stomach Mucosa	stomach
26	chr14:65819600-65824400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:65819600-65824800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:65819800-65820400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:65819800-65820400	Enhancers	A549	lung
30	chr14:65819800-65820400	Enhancers	HSMM	muscle
31	chr14:65819800-65820400	Enhancers	Osteobl	bone
32	chr14:65819800-65821000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr14:65819800-65821400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:65819800-65824400	Enhancers	Placenta	Placenta
35	chr14:65819800-65824600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:65819800-65824800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr14:65820000-65821200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr14:65820000-65821200	Weak transcription	Psoas Muscle	Psoas
39	chr14:65820000-65822400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr14:65820000-65823600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:65820200-65821400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr14:65820200-65822400	Weak transcription	NHDF-Ad	bronchial
43	chr14:65820200-65823000	Weak transcription	HUVEC	blood vessel
44	chr14:65820200-65823200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:65820200-65823200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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