Variant report

Variant	rs55962203
Chromosome Location	chr2:39591640-39591641
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39575333..39576889-chr2:39590648..39593621,2	K562	blood:

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

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

rs_ID	r²[population]
rs11893648	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11897610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023735	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023815	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55737728	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55802549	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56327620	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56962434	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57765159	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58899133	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6544219	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6748834	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6750130	1.00[AMR][1000 genomes]
rs6761146	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73923850	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73923852	1.00[AMR][1000 genomes]
rs73923853	1.00[AMR][1000 genomes]
rs73924007	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924017	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7573036	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	36 gene(s)	inside rSNPs	diseases
4	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS 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	21 gene(s)	inside rSNPs	diseases
11	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv833847	chr2:39410762-39604640	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv533445	chr2:39412970-39605266	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv873887	chr2:39468676-39601889	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39572200-39597600	Weak transcription	Osteobl	bone
2	chr2:39584400-39598400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:39584400-39604600	Weak transcription	Right Ventricle	heart
4	chr2:39587000-39596800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:39587000-39597000	Weak transcription	NHLF	lung
6	chr2:39587000-39608800	Weak transcription	Pancreas	Pancrea
7	chr2:39587200-39604400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:39587800-39594400	Weak transcription	Stomach Mucosa	stomach
9	chr2:39587800-39604800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:39588000-39595400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:39588000-39607800	Weak transcription	Ovary	ovary
12	chr2:39588000-39608800	Weak transcription	Lung	lung
13	chr2:39588000-39609000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:39588000-39630400	Weak transcription	Placenta	Placenta
15	chr2:39588200-39599800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:39588200-39602800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:39588200-39603000	Weak transcription	Adipose Nuclei	Adipose
18	chr2:39588400-39596800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:39588400-39603000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:39588600-39599400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:39589400-39594800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:39589600-39595600	Weak transcription	Primary T cells from cord blood	blood
23	chr2:39590000-39597000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:39590000-39604800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:39590200-39593600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:39590200-39594200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:39590200-39597000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:39590200-39597200	Weak transcription	NHDF-Ad	bronchial
29	chr2:39590200-39597400	Weak transcription	NHEK	skin
30	chr2:39590200-39598200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:39590200-39598400	Weak transcription	Fetal Lung	lung
32	chr2:39590200-39599800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:39590200-39602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:39590200-39602800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:39590200-39604800	Weak transcription	HSMMtube	muscle
36	chr2:39590400-39591800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr2:39590400-39598200	Weak transcription	Primary B cells from cord blood	blood
38	chr2:39590400-39599800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:39590400-39600400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:39590400-39602400	Weak transcription	Liver	Liver
41	chr2:39590600-39593600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:39590600-39593600	Weak transcription	HepG2	liver
43	chr2:39590600-39598200	Weak transcription	Fetal Intestine Large	intestine
44	chr2:39590600-39598200	Weak transcription	HSMM	muscle
45	chr2:39590600-39598400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:39590600-39598600	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:39590600-39601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:39590600-39601200	Weak transcription	Fetal Stomach	stomach
49	chr2:39590600-39602200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:39590800-39591800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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