Variant report

Variant	rs55949784
Chromosome Location	chr3:196216920-196216921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196215382..196218284-chr3:196226840..196230501,3	K562	blood:
2	chr3:196215210..196217235-chr3:196222277..196224657,2	K562	blood:
3	chr3:196209607..196212494-chr3:196216409..196218817,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56867889	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57804899	1.00[AMR][1000 genomes]
rs57849945	1.00[AMR][1000 genomes]
rs59386010	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891240	1.00[AMR][1000 genomes]
rs73891248	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891254	1.00[AMR][1000 genomes]
rs73891256	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891257	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891262	1.00[AMR][1000 genomes]
rs73891265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73891267	1.00[AMR][1000 genomes]
rs73891269	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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	45 gene(s)	inside rSNPs	diseases
4	nsv469831	chr3:196071603-196235225	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv482542	chr3:196071603-196235225	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	esv2752687	chr3:196147690-196286690	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv878186	chr3:196158773-196219794	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1010483	chr3:196210054-196319543	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv536896	chr3:196210054-196319543	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196194200-196217400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr3:196196800-196217000	Strong transcription	Fetal Intestine Small	intestine
3	chr3:196197000-196220000	Weak transcription	Stomach Mucosa	stomach
4	chr3:196197200-196223800	Strong transcription	Fetal Thymus	thymus
5	chr3:196199400-196227000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:196200400-196218200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:196210600-196217400	Weak transcription	Fetal Heart	heart
8	chr3:196210600-196219000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr3:196210800-196226000	Weak transcription	Psoas Muscle	Psoas
10	chr3:196212000-196222000	Weak transcription	HSMM	muscle
11	chr3:196213000-196226800	Weak transcription	Fetal Kidney	kidney
12	chr3:196213200-196222000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:196213400-196225800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr3:196213800-196226600	Weak transcription	Brain Substantia Nigra	brain
15	chr3:196214200-196217200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:196214200-196223000	Weak transcription	Brain Germinal Matrix	brain
17	chr3:196214200-196225000	Weak transcription	Ovary	ovary
18	chr3:196214200-196225400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr3:196214200-196225400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:196214200-196226000	Weak transcription	A549	lung
21	chr3:196214400-196217200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:196214400-196217400	Weak transcription	Brain Angular Gyrus	brain
23	chr3:196214400-196217600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:196214400-196219800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:196214400-196221400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr3:196214400-196221600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr3:196214400-196222000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:196214400-196222000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:196214400-196222400	Weak transcription	HUVEC	blood vessel
30	chr3:196214400-196222600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:196214400-196222800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr3:196214400-196223000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:196214400-196223000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr3:196214400-196225000	Weak transcription	Small Intestine	intestine
35	chr3:196214400-196225800	Weak transcription	HSMMtube	muscle
36	chr3:196214400-196225800	Weak transcription	NHEK	skin
37	chr3:196214400-196226000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:196214400-196226000	Weak transcription	Colon Smooth Muscle	Colon
39	chr3:196214400-196226000	Weak transcription	Esophagus	oesophagus
40	chr3:196214400-196226000	Weak transcription	Gastric	stomach
41	chr3:196214400-196226200	Weak transcription	Right Ventricle	heart
42	chr3:196214400-196226400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr3:196214400-196226600	Weak transcription	Aorta	Aorta
44	chr3:196214400-196226800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr3:196214400-196226800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:196214400-196226800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:196214400-196226800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr3:196214400-196226800	Weak transcription	Brain Anterior Caudate	brain
49	chr3:196214400-196226800	Weak transcription	Pancreas	Pancrea
50	chr3:196214400-196227000	Weak transcription	Brain Cingulate Gyrus	brain

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