Variant report

Variant	rs61950730
Chromosome Location	chr13:49631614-49631615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1159972	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11617719	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11620305	0.95[EUR][1000 genomes]
rs12429554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17477129	0.81[EUR][1000 genomes]
rs35468616	0.83[AMR][1000 genomes]
rs61950726	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61950727	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7990472	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv455882	chr13:49531551-49679157	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv561593	chr13:49531551-49679157	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
5	esv1803100	chr13:49576474-49655941	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49551400-49638800	Weak transcription	Pancreas	Pancrea
2	chr13:49573400-49634800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr13:49582200-49659000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr13:49584200-49649200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr13:49592800-49649600	Weak transcription	Fetal Intestine Large	intestine
6	chr13:49594800-49636000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr13:49598000-49650200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr13:49599000-49649200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr13:49601800-49660600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:49603200-49649200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr13:49603200-49652200	Weak transcription	Dnd41	blood
12	chr13:49604800-49636400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:49605200-49643400	Weak transcription	HSMM	muscle
14	chr13:49608800-49638800	Weak transcription	Ovary	ovary
15	chr13:49608800-49658800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr13:49618600-49636000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr13:49620600-49636200	Weak transcription	Primary T cells from cord blood	blood
18	chr13:49625600-49636600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr13:49625600-49642600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:49626000-49636200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:49626200-49650200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr13:49627200-49636800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr13:49627200-49656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr13:49627400-49634600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr13:49627400-49635200	Weak transcription	Right Ventricle	heart
26	chr13:49627400-49635600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr13:49627400-49638600	Weak transcription	Left Ventricle	heart
28	chr13:49627400-49656800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:49627400-49672400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr13:49627600-49635200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:49628000-49634400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:49628200-49634000	Weak transcription	Hela-S3	cervix
33	chr13:49628200-49636800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr13:49628200-49639000	Weak transcription	Colon Smooth Muscle	Colon
35	chr13:49628600-49632600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr13:49628600-49634800	Weak transcription	NHEK	skin
37	chr13:49628600-49635200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:49628600-49656600	Weak transcription	Thymus	Thymus
39	chr13:49628800-49632200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr13:49628800-49634400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:49628800-49638800	Weak transcription	Primary B cells from cord blood	blood
42	chr13:49628800-49657000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr13:49629000-49635600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:49629000-49665600	Weak transcription	Lung	lung
45	chr13:49629200-49650200	Weak transcription	Fetal Muscle Leg	muscle
46	chr13:49629400-49631800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr13:49629600-49634400	Weak transcription	Placenta	Placenta
48	chr13:49629600-49649400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr13:49629600-49650000	Weak transcription	Fetal Stomach	stomach
50	chr13:49629600-49665400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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