Variant report

Variant	rs73334925
Chromosome Location	chr14:45542382-45542383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45541896..45544769-chr14:45547601..45549115,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11848546	0.85[AMR][1000 genomes]
rs11850346	0.85[AMR][1000 genomes]
rs57077651	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57177994	1.00[AMR][1000 genomes]
rs57264888	1.00[AMR][1000 genomes]
rs61269813	1.00[AMR][1000 genomes]
rs61416111	1.00[AMR][1000 genomes]
rs73340647	1.00[AMR][1000 genomes]
rs73340650	1.00[AMR][1000 genomes]
rs73349813	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73352210	1.00[AMR][1000 genomes]
rs73352237	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats 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	45 gene(s)	inside rSNPs	diseases
2	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription 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 target site	40 gene(s)	inside rSNPs	diseases
10	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45465800-45552600	Weak transcription	HMEC	breast
2	chr14:45482800-45545400	Weak transcription	NHDF-Ad	bronchial
3	chr14:45508400-45552400	Weak transcription	GM12878-XiMat	blood
4	chr14:45508400-45552600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr14:45509200-45543400	Weak transcription	Lung	lung
6	chr14:45509200-45552600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:45509200-45552600	Weak transcription	Aorta	Aorta
8	chr14:45509200-45552600	Weak transcription	Pancreas	Pancrea
9	chr14:45509200-45552800	Weak transcription	Right Ventricle	heart
10	chr14:45509200-45553000	Weak transcription	Gastric	stomach
11	chr14:45515800-45543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:45516200-45552600	Weak transcription	Thymus	Thymus
13	chr14:45516400-45552600	Weak transcription	NH-A	brain
14	chr14:45516400-45552800	Weak transcription	Fetal Brain Male	brain
15	chr14:45516800-45552600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:45524200-45552600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:45524600-45545200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:45524600-45545200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:45524600-45552400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr14:45524600-45552600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr14:45524800-45542400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:45524800-45542400	Weak transcription	Fetal Thymus	thymus
23	chr14:45524800-45542400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr14:45524800-45543000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr14:45524800-45544400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:45524800-45551800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:45524800-45552400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:45524800-45552400	Weak transcription	Dnd41	blood
29	chr14:45524800-45552600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:45524800-45552600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:45524800-45552600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr14:45524800-45552800	Weak transcription	Placenta	Placenta
33	chr14:45524800-45553400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr14:45525800-45552600	Weak transcription	Brain Angular Gyrus	brain
35	chr14:45526200-45552400	Weak transcription	Primary B cells from cord blood	blood
36	chr14:45526800-45542400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:45526800-45552400	Weak transcription	Brain Anterior Caudate	brain
38	chr14:45527200-45551800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr14:45528600-45550800	Weak transcription	HepG2	liver
40	chr14:45528800-45552000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr14:45529000-45552600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:45529200-45552600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr14:45533800-45551800	Weak transcription	Fetal Intestine Small	intestine
44	chr14:45535200-45552400	Weak transcription	Brain Hippocampus Middle	brain
45	chr14:45535400-45552600	Weak transcription	HSMM	muscle
46	chr14:45535400-45552600	Weak transcription	Osteobl	bone
47	chr14:45535600-45552400	Weak transcription	Primary T cells from cord blood	blood
48	chr14:45535600-45552600	Weak transcription	Colon Smooth Muscle	Colon
49	chr14:45535600-45552600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:45535600-45553000	Weak transcription	Small Intestine	intestine

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