Variant report

Variant	rs62374676
Chromosome Location	chr5:112410198-112410199
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	chr5:112403827..112406035-chr5:112407847..112410916,3	K562	blood:

Extended variants
information (count: 31 )
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[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]
rs62373350	1.00[EUR][1000 genomes]
rs62373352	1.00[EUR][1000 genomes]
rs62374682	1.00[AFR][1000 genomes];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:5 , 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	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
3	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
4	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
5	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
4	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:112384200-112411000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:112390800-112410800	Weak transcription	Fetal Intestine Small	intestine
7	chr5:112391600-112439000	Weak transcription	Gastric	stomach
8	chr5:112395000-112411600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:112395600-112417600	Weak transcription	Brain Angular Gyrus	brain
10	chr5:112395600-112420400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:112396000-112417200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:112398800-112412400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:112399000-112432800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:112399200-112417600	Weak transcription	Fetal Kidney	kidney
15	chr5:112399800-112441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:112400000-112417600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:112400200-112411400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:112400200-112416800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:112400200-112416800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:112400400-112411200	Weak transcription	Thymus	Thymus
21	chr5:112400800-112423800	Weak transcription	Aorta	Aorta
22	chr5:112401800-112410600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:112402600-112425600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:112402800-112410600	Weak transcription	Fetal Intestine Large	intestine
25	chr5:112402800-112410600	Weak transcription	Pancreas	Pancrea
26	chr5:112403000-112410600	Weak transcription	Spleen	Spleen
27	chr5:112403800-112418400	Weak transcription	Brain Substantia Nigra	brain
28	chr5:112404000-112413800	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:112404000-112426000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr5:112404200-112410800	Weak transcription	Brain Germinal Matrix	brain
31	chr5:112404400-112411800	Strong transcription	Stomach Smooth Muscle	stomach
32	chr5:112404400-112428000	Weak transcription	Placenta	Placenta
33	chr5:112404400-112436800	Weak transcription	Fetal Brain Male	brain
34	chr5:112404600-112410600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:112404600-112411200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:112404600-112411600	Weak transcription	Fetal Lung	lung
37	chr5:112404600-112417000	Weak transcription	HSMMtube	muscle
38	chr5:112404800-112425400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr5:112405200-112410400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:112405200-112410600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:112405600-112410600	Weak transcription	Adipose Nuclei	Adipose
42	chr5:112405800-112410800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:112405800-112410800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:112406000-112416800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:112406800-112413600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:112406800-112416800	Weak transcription	HMEC	breast
47	chr5:112407000-112410400	Weak transcription	Esophagus	oesophagus
48	chr5:112407000-112416800	Weak transcription	NHEK	skin
49	chr5:112407200-112411600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:112407200-112417000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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