Variant report

Variant	rs55736379
Chromosome Location	chr3:47701915-47701916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1038391	1.00[EUR][1000 genomes]
rs11130134	1.00[EUR][1000 genomes]
rs11714816	1.00[EUR][1000 genomes]
rs1486916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1809487	1.00[AMR][1000 genomes]
rs2170814	1.00[EUR][1000 genomes]
rs2351249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2593817	1.00[AMR][1000 genomes]
rs319683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34675858	1.00[AMR][1000 genomes]
rs4383546	1.00[EUR][1000 genomes]
rs4858833	1.00[EUR][1000 genomes]
rs4858834	1.00[EUR][1000 genomes]
rs4858855	1.00[EUR][1000 genomes]
rs55808934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442066	1.00[AMR][1000 genomes]
rs73831515	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831528	0.81[AFR][1000 genomes]
rs73831540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900691	1.00[AMR][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	nsv1003072	chr3:47673628-47869154	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv590232	chr3:47681881-47765547	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv876758	chr3:47681881-47842234	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47654400-47707600	Weak transcription	Stomach Mucosa	stomach
2	chr3:47655800-47765600	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:47656600-47790800	Strong transcription	Fetal Thymus	thymus
4	chr3:47661400-47711400	Weak transcription	Colonic Mucosa	Colon
5	chr3:47672000-47718600	Weak transcription	Right Ventricle	heart
6	chr3:47673600-47719200	Weak transcription	Small Intestine	intestine
7	chr3:47674200-47705000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:47675000-47703800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:47677200-47707400	Weak transcription	HMEC	breast
10	chr3:47677200-47715400	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:47677200-47720000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:47677400-47711600	Weak transcription	Brain Substantia Nigra	brain
13	chr3:47677800-47704600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr3:47677800-47712000	Weak transcription	Brain Angular Gyrus	brain
15	chr3:47678000-47717800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:47682200-47704200	Strong transcription	Primary B cells from cord blood	blood
17	chr3:47683000-47703800	Weak transcription	Esophagus	oesophagus
18	chr3:47684200-47711800	Weak transcription	Ovary	ovary
19	chr3:47684400-47702200	Weak transcription	NHLF	lung
20	chr3:47684600-47705200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:47684800-47703800	Weak transcription	Lung	lung
22	chr3:47684800-47705200	Weak transcription	Aorta	Aorta
23	chr3:47684800-47718400	Weak transcription	Spleen	Spleen
24	chr3:47688200-47704200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:47688200-47705200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:47688200-47763400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:47688400-47702600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr3:47688600-47702600	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:47688600-47710600	Weak transcription	Adipose Nuclei	Adipose
30	chr3:47688600-47718000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr3:47689800-47711800	Weak transcription	Left Ventricle	heart
32	chr3:47689800-47714200	Weak transcription	Psoas Muscle	Psoas
33	chr3:47690200-47702800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:47692800-47719200	Weak transcription	Gastric	stomach
35	chr3:47693800-47705000	Weak transcription	Pancreas	Pancrea
36	chr3:47694400-47745800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:47695000-47704400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr3:47695000-47705600	Strong transcription	Liver	Liver
39	chr3:47695000-47713800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr3:47695200-47737200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr3:47695400-47704200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr3:47695800-47702600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr3:47697000-47702200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:47697000-47709200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:47697200-47703800	Weak transcription	Thymus	Thymus
46	chr3:47697600-47702000	Strong transcription	HSMM	muscle
47	chr3:47697600-47704200	Strong transcription	Hela-S3	cervix
48	chr3:47697800-47704200	Strong transcription	K562	blood
49	chr3:47697800-47706400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr3:47698200-47702800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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