Variant report

Variant	rs62373350
Chromosome Location	chr5:112406928-112406929
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112402187..112405327-chr5:112405857..112410029,4	K562	blood:
2	chr5:112400600..112402613-chr5:112406837..112408952,2	K562	blood:
3	chr5:112404865..112407461-chr5:112436712..112439575,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11952087	0.83[EUR][1000 genomes]
rs35555142	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3756600	0.83[EUR][1000 genomes]
rs4235792	0.83[EUR][1000 genomes]
rs4259163	0.83[EUR][1000 genomes]
rs4454046	0.83[EUR][1000 genomes]
rs4458560	0.83[EUR][1000 genomes]
rs4527591	0.83[EUR][1000 genomes]
rs4582268	0.83[EUR][1000 genomes]
rs4705541	0.83[EUR][1000 genomes]
rs4705781	0.83[EUR][1000 genomes]
rs60681208	1.00[EUR][1000 genomes]
rs62373352	1.00[EUR][1000 genomes]
rs62374676	1.00[EUR][1000 genomes]
rs62374682	1.00[EUR][1000 genomes]
rs62374707	1.00[EUR][1000 genomes]
rs62374708	0.83[EUR][1000 genomes]
rs62374709	0.83[EUR][1000 genomes]
rs62374711	0.83[EUR][1000 genomes]
rs6594684	0.83[EUR][1000 genomes]
rs6594689	0.83[EUR][1000 genomes]
rs6872711	0.83[EUR][1000 genomes]
rs6886491	0.83[EUR][1000 genomes]
rs6894948	0.83[EUR][1000 genomes]
rs73237129	0.83[EUR][1000 genomes]
rs7703001	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv15902	chr5:112369563-112410775	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599395	chr5:112370311-112428869	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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
6	nsv1032798	chr5:112392380-112408177	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv528441	chr5:112406862-112408944	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
2	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
5	chr5:112383200-112409400	Strong transcription	Liver	Liver
6	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:112384200-112411000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:112390800-112410800	Weak transcription	Fetal Intestine Small	intestine
9	chr5:112391600-112439000	Weak transcription	Gastric	stomach
10	chr5:112395000-112411600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:112395600-112417600	Weak transcription	Brain Angular Gyrus	brain
12	chr5:112395600-112420400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:112395800-112408600	Weak transcription	Brain Anterior Caudate	brain
14	chr5:112395800-112409000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:112396000-112417200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:112398400-112407400	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:112398600-112407000	Strong transcription	NHEK	skin
18	chr5:112398600-112409800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:112398800-112412400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:112399000-112432800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:112399200-112417600	Weak transcription	Fetal Kidney	kidney
22	chr5:112399800-112408400	Weak transcription	Right Atrium	heart
23	chr5:112399800-112441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:112400000-112417600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:112400200-112411400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:112400200-112416800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:112400200-112416800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:112400400-112411200	Weak transcription	Thymus	Thymus
29	chr5:112400800-112423800	Weak transcription	Aorta	Aorta
30	chr5:112401800-112410600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:112402000-112407000	Strong transcription	Esophagus	oesophagus
32	chr5:112402400-112408200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr5:112402600-112407800	Weak transcription	Primary T cells from cord blood	blood
34	chr5:112402600-112425600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:112402800-112410600	Weak transcription	Fetal Intestine Large	intestine
36	chr5:112402800-112410600	Weak transcription	Pancreas	Pancrea
37	chr5:112403000-112407200	Weak transcription	Lung	lung
38	chr5:112403000-112408400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr5:112403000-112409000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:112403000-112410600	Weak transcription	Spleen	Spleen
41	chr5:112403800-112418400	Weak transcription	Brain Substantia Nigra	brain
42	chr5:112404000-112413800	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:112404000-112426000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr5:112404200-112410800	Weak transcription	Brain Germinal Matrix	brain
45	chr5:112404400-112408200	Strong transcription	Left Ventricle	heart
46	chr5:112404400-112411800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr5:112404400-112428000	Weak transcription	Placenta	Placenta
48	chr5:112404400-112436800	Weak transcription	Fetal Brain Male	brain
49	chr5:112404600-112408000	Weak transcription	Right Ventricle	heart
50	chr5:112404600-112408600	Weak transcription	Fetal Stomach	stomach

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