Variant report

Variant	rs62305514
Chromosome Location	chr4:86852771-86852772
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs346499	0.89[ASN][1000 genomes]
rs346500	0.91[ASN][1000 genomes]
rs62305513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62305515	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62305516	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];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	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv879519	chr4:86786204-86871282	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv879520	chr4:86829529-86918232	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86844400-86853800	Weak transcription	Gastric	stomach
2	chr4:86847000-86853200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr4:86848600-86856000	Weak transcription	Primary B cells from cord blood	blood
4	chr4:86849600-86852800	Enhancers	Fetal Thymus	thymus
5	chr4:86849800-86853400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:86850000-86853800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:86850400-86854400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr4:86850600-86853000	Enhancers	Left Ventricle	heart
9	chr4:86850800-86854000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:86850800-86854200	Active TSS	Fetal Kidney	kidney
11	chr4:86851000-86853000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr4:86851000-86853000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:86851200-86853800	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:86851200-86863200	Weak transcription	Psoas Muscle	Psoas
15	chr4:86851400-86853000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:86851400-86853200	Weak transcription	Osteobl	bone
17	chr4:86851400-86853600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:86851400-86853600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:86851400-86853600	Weak transcription	Aorta	Aorta
20	chr4:86851400-86853600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:86851400-86853600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr4:86851400-86853600	Enhancers	HUVEC	blood vessel
23	chr4:86851400-86853800	Weak transcription	Lung	lung
24	chr4:86851400-86854400	Weak transcription	Spleen	Spleen
25	chr4:86851400-86861600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr4:86851400-86865800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:86851400-86874600	Weak transcription	HSMMtube	muscle
28	chr4:86851600-86852800	Enhancers	Brain Anterior Caudate	brain
29	chr4:86851600-86853000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr4:86851600-86853000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:86851600-86853000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:86851600-86853400	Weak transcription	NHLF	lung
33	chr4:86851600-86853600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:86851600-86853600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:86851600-86853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr4:86851600-86853600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:86851600-86853600	Weak transcription	Fetal Brain Female	brain
38	chr4:86851600-86853600	Weak transcription	Pancreas	Pancrea
39	chr4:86851600-86853600	Weak transcription	Right Atrium	heart
40	chr4:86851600-86853800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:86851600-86853800	Weak transcription	Primary T cells from cord blood	blood
42	chr4:86851600-86853800	Weak transcription	Brain Angular Gyrus	brain
43	chr4:86851600-86853800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr4:86851600-86853800	Weak transcription	Placenta	Placenta
45	chr4:86851600-86853800	Enhancers	Dnd41	blood
46	chr4:86851600-86854000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr4:86851600-86854000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr4:86851600-86854600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:86851600-86858200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr4:86851600-86870000	Weak transcription	HSMM	muscle

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