Variant report

Variant	rs58307523
Chromosome Location	chr14:31371338-31371339
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	chr14:31359962..31362507-chr14:31370920..31372508,2	MCF-7	breast:
2	chr14:31365626..31367876-chr14:31370827..31372505,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11623403	0.84[EUR][1000 genomes]
rs11625978	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1977130	0.83[EUR][1000 genomes]
rs2295129	0.88[EUR][1000 genomes]
rs55843943	0.84[EUR][1000 genomes]
rs56136496	0.84[EUR][1000 genomes]
rs57706775	0.84[EUR][1000 genomes]
rs61976773	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61976775	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61976776	0.84[EUR][1000 genomes]
rs61976779	0.84[EUR][1000 genomes]
rs61976796	0.84[EUR][1000 genomes]
rs61976799	0.84[EUR][1000 genomes]
rs6571374	0.82[EUR][1000 genomes]
rs67898509	0.83[EUR][1000 genomes]
rs7140551	0.84[EUR][1000 genomes]
rs7150316	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7150699	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8008780	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9671318	0.84[EUR][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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832762	chr14:31238634-31414038	Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv564173	chr14:31358377-31400682	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv901584	chr14:31358377-31409010	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv564174	chr14:31365884-31400682	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv564175	chr14:31365884-31409010	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv564176	chr14:31365884-31413492	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv901585	chr14:31365884-31433473	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31345400-31382600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:31346600-31382600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:31347000-31384600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:31347000-31394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:31348000-31372600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:31348200-31376800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:31350200-31377800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:31355200-31378400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:31355800-31414400	Weak transcription	Spleen	Spleen
11	chr14:31356200-31378800	Weak transcription	Brain Germinal Matrix	brain
12	chr14:31356200-31412800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:31358000-31428200	Weak transcription	Small Intestine	intestine
14	chr14:31358400-31378400	Weak transcription	Aorta	Aorta
15	chr14:31359200-31371400	Weak transcription	HUVEC	blood vessel
16	chr14:31359600-31375200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:31360200-31435600	Weak transcription	Gastric	stomach
18	chr14:31360400-31381800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:31361200-31379400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:31361400-31377200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr14:31361600-31380600	Weak transcription	Stomach Mucosa	stomach
22	chr14:31361600-31384400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:31361800-31394200	Weak transcription	Fetal Brain Male	brain
24	chr14:31362000-31381400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:31362200-31378800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:31362200-31414400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
28	chr14:31362600-31382400	Strong transcription	Liver	Liver
29	chr14:31362800-31372200	Strong transcription	HepG2	liver
30	chr14:31363000-31379200	Weak transcription	Fetal Heart	heart
31	chr14:31363000-31394400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr14:31363000-31430600	Weak transcription	Brain Angular Gyrus	brain
33	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
34	chr14:31363400-31371800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:31363400-31383000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr14:31363600-31371800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr14:31363600-31375800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:31363800-31381400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:31364400-31415400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:31364600-31371400	Weak transcription	HMEC	breast
41	chr14:31364800-31373200	Weak transcription	NHDF-Ad	bronchial
42	chr14:31364800-31377800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr14:31364800-31379000	Weak transcription	Fetal Kidney	kidney
44	chr14:31364800-31393200	Weak transcription	Brain Substantia Nigra	brain
45	chr14:31365000-31375000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr14:31365200-31373400	Weak transcription	Hela-S3	cervix
47	chr14:31365200-31378600	Weak transcription	Brain Hippocampus Middle	brain
48	chr14:31365400-31371600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr14:31365600-31373200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr14:31365600-31375000	Weak transcription	NHEK	skin

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