Variant report

Variant	rs73184687
Chromosome Location	chr13:49763685-49763686
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1475265	1.00[AFR][1000 genomes]
rs17477129	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61949514	1.00[AFR][1000 genomes]
rs61950790	1.00[AFR][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	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	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
3	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
2	chr13:49724400-49765000	Weak transcription	A549	lung
3	chr13:49737800-49788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:49738000-49777000	Weak transcription	Small Intestine	intestine
5	chr13:49738400-49785200	Strong transcription	Liver	Liver
6	chr13:49738600-49785000	Strong transcription	Dnd41	blood
7	chr13:49739000-49768200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:49739000-49774200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:49739600-49786400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:49740200-49786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:49740400-49784800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr13:49740600-49768400	Strong transcription	Fetal Thymus	thymus
13	chr13:49740600-49769000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr13:49740600-49772800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr13:49740600-49786600	Strong transcription	Placenta	Placenta
16	chr13:49741600-49783400	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr13:49742600-49783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr13:49742800-49774400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr13:49745600-49783400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr13:49747400-49764000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:49747400-49766400	Weak transcription	Aorta	Aorta
22	chr13:49747400-49772000	Weak transcription	Esophagus	oesophagus
23	chr13:49747400-49772000	Weak transcription	Spleen	Spleen
24	chr13:49748800-49790600	Weak transcription	K562	blood
25	chr13:49749400-49767600	Strong transcription	Primary hematopoietic stem cells	blood
26	chr13:49749400-49768200	Strong transcription	Fetal Intestine Large	intestine
27	chr13:49749400-49774000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr13:49750200-49769000	Strong transcription	Fetal Muscle Leg	muscle
29	chr13:49750800-49766200	Strong transcription	HSMM	muscle
30	chr13:49750800-49768400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr13:49751200-49768200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr13:49751400-49767800	Strong transcription	NH-A	brain
33	chr13:49753200-49766400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:49753200-49766400	Weak transcription	Lung	lung
35	chr13:49753200-49767400	Weak transcription	Gastric	stomach
36	chr13:49753200-49787600	Weak transcription	Psoas Muscle	Psoas
37	chr13:49753400-49765200	Weak transcription	Brain Angular Gyrus	brain
38	chr13:49753400-49772000	Weak transcription	Colonic Mucosa	Colon
39	chr13:49754800-49769400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr13:49756600-49785400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr13:49756600-49786400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr13:49756800-49782800	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr13:49757000-49768800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr13:49757000-49769600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:49757200-49767000	Strong transcription	Primary T cells from cord blood	blood
46	chr13:49757200-49774400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr13:49757600-49771800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr13:49757800-49767400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr13:49757800-49774600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr13:49758000-49764200	Strong transcription	Fetal Brain Female	brain

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