Variant report

Variant	rs61752712
Chromosome Location	chr13:48657526-48657527
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17071548	1.00[EUR][1000 genomes]
rs17071560	1.00[EUR][1000 genomes]
rs56945534	1.00[EUR][1000 genomes]
rs74074170	1.00[EUR][1000 genomes]
rs74074184	1.00[EUR][1000 genomes]
rs9332251	1.00[EUR][1000 genomes]
rs9332256	1.00[EUR][1000 genomes]
rs9332287	1.00[EUR][1000 genomes]
rs9332296	1.00[EUR][1000 genomes]
rs9332298	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats 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 miRNA target site	42 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	chr13:48640200-48661200	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr13:48644200-48657600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
3	chr13:48644200-48659800	Strong transcription	Stomach Smooth Muscle	stomach
4	chr13:48645200-48657600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr13:48645200-48661000	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr13:48645400-48657600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr13:48645400-48657600	Strong transcription	NHLF	lung
8	chr13:48645600-48659800	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr13:48645600-48660400	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr13:48645600-48660600	Strong transcription	Osteobl	bone
11	chr13:48645800-48660600	Strong transcription	HSMM	muscle
12	chr13:48645800-48661000	Strong transcription	HepG2	liver
13	chr13:48646000-48660000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:48646000-48660000	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr13:48646200-48658200	Strong transcription	NHDF-Ad	bronchial
16	chr13:48646200-48661000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr13:48646400-48660400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr13:48646600-48657600	Strong transcription	Brain Substantia Nigra	brain
19	chr13:48646600-48658200	Strong transcription	Colon Smooth Muscle	Colon
20	chr13:48646600-48660400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:48646600-48660600	Strong transcription	Adipose Nuclei	Adipose
22	chr13:48646800-48658000	Strong transcription	NH-A	brain
23	chr13:48646800-48660000	Strong transcription	Fetal Intestine Large	intestine
24	chr13:48646800-48660400	Strong transcription	Placenta	Placenta
25	chr13:48647000-48660600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:48647000-48660800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:48647000-48662400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr13:48647200-48660000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr13:48647200-48660600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:48647400-48660600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:48647400-48660600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr13:48647400-48660600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr13:48647400-48663600	Weak transcription	Small Intestine	intestine
34	chr13:48647600-48660400	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr13:48647800-48658400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:48648000-48658200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:48648200-48658000	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr13:48648200-48660000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr13:48648600-48658800	Strong transcription	Fetal Lung	lung
40	chr13:48648600-48659800	Strong transcription	Fetal Muscle Leg	muscle
41	chr13:48648600-48660600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr13:48648600-48660600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr13:48648600-48660600	Strong transcription	Liver	Liver
44	chr13:48648600-48660600	Strong transcription	Fetal Thymus	thymus
45	chr13:48648600-48660800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr13:48648600-48661000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr13:48648600-48667400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr13:48648800-48660800	Strong transcription	Primary B cells from cord blood	blood
49	chr13:48649400-48660400	Strong transcription	NHEK	skin
50	chr13:48649400-48661000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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