Variant report

Variant	rs62374709
Chromosome Location	chr5:112443173-112443174
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	chr5:112433359..112435186-chr5:112441396..112444395,2	K562	blood:
2	chr5:112428215..112429903-chr5:112440936..112443304,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11952087	1.00[EUR][1000 genomes]
rs35555142	0.83[EUR][1000 genomes]
rs4235792	1.00[EUR][1000 genomes]
rs4259163	1.00[EUR][1000 genomes]
rs4454046	1.00[EUR][1000 genomes]
rs4458560	1.00[EUR][1000 genomes]
rs4527591	1.00[EUR][1000 genomes]
rs4582268	1.00[EUR][1000 genomes]
rs4705541	1.00[EUR][1000 genomes]
rs4705781	1.00[EUR][1000 genomes]
rs60681208	0.83[EUR][1000 genomes]
rs62373350	0.83[EUR][1000 genomes]
rs62373352	0.83[EUR][1000 genomes]
rs62374676	0.83[EUR][1000 genomes]
rs62374682	0.83[EUR][1000 genomes]
rs62374707	0.83[EUR][1000 genomes]
rs62374708	1.00[EUR][1000 genomes]
rs62374711	1.00[EUR][1000 genomes]
rs6594684	1.00[EUR][1000 genomes]
rs6594689	1.00[EUR][1000 genomes]
rs6872711	1.00[EUR][1000 genomes]
rs73237129	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7703001	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats 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 target site	31 gene(s)	inside rSNPs	diseases
2	nsv1018344	chr5:112390951-112458853	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:112411200-112443400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:112424400-112448000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:112426200-112445000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:112426600-112453000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:112426800-112450200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:112426800-112450600	Weak transcription	Primary T cells from cord blood	blood
8	chr5:112426800-112450600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:112426800-112453800	Weak transcription	HSMMtube	muscle
10	chr5:112427000-112453800	Weak transcription	Fetal Kidney	kidney
11	chr5:112427200-112448200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:112427600-112443200	Weak transcription	Brain Substantia Nigra	brain
13	chr5:112428600-112445000	Weak transcription	Placenta	Placenta
14	chr5:112431200-112461600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:112432200-112443200	Weak transcription	Lung	lung
16	chr5:112432200-112450200	Weak transcription	Spleen	Spleen
17	chr5:112432200-112454600	Weak transcription	Pancreas	Pancrea
18	chr5:112433800-112443800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:112434000-112459200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:112437600-112445800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:112437800-112454400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:112438000-112444400	Weak transcription	HMEC	breast
23	chr5:112438000-112450600	Weak transcription	Aorta	Aorta
24	chr5:112438000-112454200	Weak transcription	Psoas Muscle	Psoas
25	chr5:112438200-112444800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:112438200-112450000	Weak transcription	Adipose Nuclei	Adipose
27	chr5:112438200-112450200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:112438200-112452800	Weak transcription	Brain Anterior Caudate	brain
29	chr5:112439600-112454600	Weak transcription	Esophagus	oesophagus
30	chr5:112439800-112452600	Weak transcription	Fetal Lung	lung
31	chr5:112440000-112443400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:112440000-112445600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:112440000-112450000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:112440200-112445800	Weak transcription	Ovary	ovary
35	chr5:112440200-112446600	Weak transcription	Right Ventricle	heart
36	chr5:112440200-112447800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:112440200-112447800	Weak transcription	Right Atrium	heart
38	chr5:112440200-112448000	Weak transcription	Fetal Muscle Leg	muscle
39	chr5:112440200-112450000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:112440200-112450000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:112440200-112450000	Weak transcription	Fetal Stomach	stomach
42	chr5:112440200-112454200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:112440400-112445800	Weak transcription	Fetal Heart	heart
44	chr5:112441000-112444400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:112441200-112444400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:112441200-112444400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:112441400-112444400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:112441400-112444400	Weak transcription	NHEK	skin
49	chr5:112441600-112443600	Enhancers	Left Ventricle	heart
50	chr5:112441600-112444400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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