Variant report

Variant	rs346499
Chromosome Location	chr4:86852539-86852540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs189395	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs189396	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2043647	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2136782	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2164538	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2575681	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2575682	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2589505	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2589510	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2665869	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2665876	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs346469	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs346470	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs346472	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs346473	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs346476	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs346477	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs346482	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs346483	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs346486	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs346487	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs346489	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs346490	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs346491	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs346493	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs346494	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs346495	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs346496	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs346500	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346501	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62305513	0.91[ASN][1000 genomes]
rs62305514	0.89[ASN][1000 genomes]
rs62305518	0.90[AMR][1000 genomes];0.93[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:90 , 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	chr4:86850000-86852600	Enhancers	Fetal Muscle Leg	muscle
7	chr4:86850000-86853800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:86850400-86854400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr4:86850600-86853000	Enhancers	Left Ventricle	heart
10	chr4:86850800-86854000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:86850800-86854200	Active TSS	Fetal Kidney	kidney
12	chr4:86851000-86852600	Active TSS	Duodenum Mucosa	Duodenum
13	chr4:86851000-86853000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr4:86851000-86853000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:86851200-86853800	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:86851200-86863200	Weak transcription	Psoas Muscle	Psoas
17	chr4:86851400-86852600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr4:86851400-86852600	Weak transcription	Right Ventricle	heart
19	chr4:86851400-86852600	Enhancers	Stomach Mucosa	stomach
20	chr4:86851400-86853000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:86851400-86853200	Weak transcription	Osteobl	bone
22	chr4:86851400-86853600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:86851400-86853600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:86851400-86853600	Weak transcription	Aorta	Aorta
25	chr4:86851400-86853600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:86851400-86853600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:86851400-86853600	Enhancers	HUVEC	blood vessel
28	chr4:86851400-86853800	Weak transcription	Lung	lung
29	chr4:86851400-86854400	Weak transcription	Spleen	Spleen
30	chr4:86851400-86861600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr4:86851400-86865800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:86851400-86874600	Weak transcription	HSMMtube	muscle
33	chr4:86851600-86852600	Enhancers	Colonic Mucosa	Colon
34	chr4:86851600-86852800	Enhancers	Brain Anterior Caudate	brain
35	chr4:86851600-86853000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr4:86851600-86853000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr4:86851600-86853000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:86851600-86853400	Weak transcription	NHLF	lung
39	chr4:86851600-86853600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:86851600-86853600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:86851600-86853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:86851600-86853600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:86851600-86853600	Weak transcription	Fetal Brain Female	brain
44	chr4:86851600-86853600	Weak transcription	Pancreas	Pancrea
45	chr4:86851600-86853600	Weak transcription	Right Atrium	heart
46	chr4:86851600-86853800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr4:86851600-86853800	Weak transcription	Primary T cells from cord blood	blood
48	chr4:86851600-86853800	Weak transcription	Brain Angular Gyrus	brain
49	chr4:86851600-86853800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr4:86851600-86853800	Weak transcription	Placenta	Placenta

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