Variant report

Variant	rs73348098
Chromosome Location	chr14:45501597-45501598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45500095..45501795-chr17:41400297..41401961,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17115763	1.00[AMR][1000 genomes]
rs73340618	1.00[AMR][1000 genomes]
rs73340627	1.00[AMR][1000 genomes]
rs73348086	1.00[AMR][1000 genomes]
rs73348091	1.00[AMR][1000 genomes]
rs73348277	1.00[AMR][1000 genomes]
rs73348284	1.00[AMR][1000 genomes]
rs73348291	1.00[AMR][1000 genomes]
rs73349823	1.00[AMR][1000 genomes]
rs73350014	1.00[AMR][1000 genomes]
rs73352208	1.00[AMR][1000 genomes]
rs73352236	1.00[AMR][1000 genomes]
rs73352240	1.00[AMR][1000 genomes]
rs73352243	1.00[AMR][1000 genomes]
rs73353653	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1038384	chr14:45447187-45521583	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1260	chr14:45457666-45502671	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45437000-45507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:45438000-45501800	Weak transcription	Fetal Kidney	kidney
4	chr14:45450000-45501800	Weak transcription	Lung	lung
5	chr14:45458200-45507400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:45458800-45503400	Weak transcription	HUVEC	blood vessel
7	chr14:45459400-45507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:45461200-45501800	Weak transcription	HSMMtube	muscle
9	chr14:45462400-45506200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:45463600-45507000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr14:45464400-45507400	Weak transcription	Spleen	Spleen
12	chr14:45464600-45507400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:45464600-45507600	Weak transcription	Hela-S3	cervix
14	chr14:45465600-45507800	Weak transcription	Fetal Heart	heart
15	chr14:45465800-45524000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:45465800-45552600	Weak transcription	HMEC	breast
17	chr14:45466200-45508600	Weak transcription	HepG2	liver
18	chr14:45466400-45503000	Weak transcription	Esophagus	oesophagus
19	chr14:45466400-45508000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:45468600-45507400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:45469400-45506200	Weak transcription	Psoas Muscle	Psoas
22	chr14:45470400-45507400	Weak transcription	Right Ventricle	heart
23	chr14:45470600-45507600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr14:45476400-45507600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:45477400-45502600	Weak transcription	A549	lung
26	chr14:45479000-45506000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:45480400-45507600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr14:45480800-45501800	Weak transcription	Colonic Mucosa	Colon
29	chr14:45482800-45545400	Weak transcription	NHDF-Ad	bronchial
30	chr14:45485200-45507400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr14:45486800-45501600	Weak transcription	Fetal Lung	lung
32	chr14:45487000-45507400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr14:45487800-45501800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:45487800-45503400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:45487800-45507400	Weak transcription	Gastric	stomach
36	chr14:45488000-45506200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:45488600-45501600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:45488600-45501800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr14:45488600-45501800	Weak transcription	Brain Angular Gyrus	brain
40	chr14:45488600-45507800	Weak transcription	Fetal Brain Male	brain
41	chr14:45488800-45507400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:45489200-45505800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:45489400-45501800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:45489800-45506200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:45490200-45504200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:45491400-45503400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr14:45492000-45503200	Weak transcription	Brain Germinal Matrix	brain
48	chr14:45492400-45504200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:45492600-45504400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:45492800-45506400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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