Variant report

Variant	rs55861914
Chromosome Location	chr2:98610288-98610289
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11679828	0.82[AFR][1000 genomes]
rs11688829	0.82[AFR][1000 genomes]
rs11692470	0.82[AFR][1000 genomes]
rs13032883	0.87[AFR][1000 genomes]
rs28624680	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688392	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34974566	0.81[AFR][1000 genomes]
rs35255677	0.84[AFR][1000 genomes]
rs35783535	0.82[AFR][1000 genomes]
rs56210806	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57836517	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57970329	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58161649	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60066040	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61132054	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73959805	1.00[AMR][1000 genomes]
rs73960444	0.83[AFR][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	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98598600-98610400	Weak transcription	Placenta	Placenta
2	chr2:98600200-98611600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:98606200-98610400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:98606200-98611200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:98606200-98611200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:98606400-98611000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:98607600-98610400	Enhancers	Liver	Liver
8	chr2:98607800-98610400	Enhancers	Fetal Lung	lung
9	chr2:98607800-98610400	Enhancers	Stomach Mucosa	stomach
10	chr2:98608000-98610400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:98608200-98610400	Weak transcription	Gastric	stomach
12	chr2:98608200-98610400	Weak transcription	Left Ventricle	heart
13	chr2:98608200-98610400	Weak transcription	Pancreas	Pancrea
14	chr2:98608200-98611400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:98608200-98611400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:98608200-98611400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:98608200-98611400	Weak transcription	Lung	lung
18	chr2:98608200-98611600	Weak transcription	Spleen	Spleen
19	chr2:98608400-98610800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:98608400-98611000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr2:98608600-98612800	Active TSS	GM12878-XiMat	blood
22	chr2:98609200-98610400	Enhancers	Small Intestine	intestine
23	chr2:98609200-98610600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:98609200-98613400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:98609400-98610400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr2:98609400-98610400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:98609400-98610400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:98609400-98610400	Enhancers	Brain Angular Gyrus	brain
29	chr2:98609400-98610400	Enhancers	Colon Smooth Muscle	Colon
30	chr2:98609400-98610400	Enhancers	Fetal Brain Male	brain
31	chr2:98609400-98610600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr2:98609400-98610600	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr2:98609400-98610800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr2:98609400-98610800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr2:98609400-98610800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr2:98609400-98610800	Enhancers	Fetal Heart	heart
37	chr2:98609400-98610800	Flanking Active TSS	NHDF-Ad	bronchial
38	chr2:98609400-98611000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:98609400-98611000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr2:98609400-98611000	Flanking Active TSS	NHEK	skin
41	chr2:98609400-98611400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:98609400-98613000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:98609400-98613200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:98609600-98610400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:98609600-98610400	Enhancers	Adipose Nuclei	Adipose
46	chr2:98609600-98610400	Enhancers	A549	lung
47	chr2:98609600-98610400	Enhancers	HUVEC	blood vessel
48	chr2:98609600-98611000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:98609800-98610400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:98609800-98610400	Active TSS	iPS-18 Cell Line	embryonic stem cell

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