Variant report

Variant	rs61972743
Chromosome Location	chr13:95920470-95920471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16952754	0.94[EUR][1000 genomes]
rs17189540	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17268275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17268282	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4148456	0.94[EUR][1000 genomes]
rs4148459	0.90[EUR][1000 genomes]
rs4148466	0.88[EUR][1000 genomes]
rs61965939	0.88[EUR][1000 genomes]
rs61965965	0.84[EUR][1000 genomes]
rs61972720	0.90[EUR][1000 genomes]
rs61972725	0.94[EUR][1000 genomes]
rs61972742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61972757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61972758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61972759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61974960	0.81[AMR][1000 genomes]
rs74105487	0.84[EUR][1000 genomes]
rs873705	0.84[EUR][1000 genomes]
rs9302049	0.84[EUR][1000 genomes]
rs9590204	0.88[EUR][1000 genomes]
rs9590205	0.88[EUR][1000 genomes]
rs9590230	0.84[AMR][1000 genomes];0.90[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	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95880600-95922600	Weak transcription	Psoas Muscle	Psoas
2	chr13:95896200-95923400	Weak transcription	Ovary	ovary
3	chr13:95897000-95927400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr13:95908000-95926600	Weak transcription	Gastric	stomach
5	chr13:95910200-95927400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:95913600-95932800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr13:95916400-95922000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr13:95917000-95931400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr13:95918400-95923400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:95918600-95921000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr13:95918800-95922800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr13:95919000-95921200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:95919000-95922600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr13:95919000-95922800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr13:95919000-95923200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:95919000-95925600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:95919000-95930000	Weak transcription	Esophagus	oesophagus
18	chr13:95919200-95922800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:95919400-95921200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:95919400-95921200	Enhancers	NHLF	lung
21	chr13:95919400-95923200	Enhancers	HSMM	muscle
22	chr13:95919400-95923600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:95919400-95924200	Enhancers	Fetal Stomach	stomach
24	chr13:95919600-95920600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:95919600-95920600	Enhancers	Fetal Muscle Leg	muscle
26	chr13:95919600-95920800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:95919600-95920800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr13:95919600-95920800	Enhancers	Fetal Lung	lung
29	chr13:95919600-95920800	Enhancers	HMEC	breast
30	chr13:95919600-95921200	Enhancers	Lung	lung
31	chr13:95919600-95922000	Enhancers	Colon Smooth Muscle	Colon
32	chr13:95919600-95923000	Genic enhancers	K562	blood
33	chr13:95919600-95923400	Enhancers	Osteobl	bone
34	chr13:95919600-95924800	Enhancers	HUVEC	blood vessel
35	chr13:95919800-95920600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:95919800-95921000	Enhancers	Fetal Kidney	kidney
37	chr13:95919800-95921200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr13:95919800-95921200	Enhancers	Fetal Intestine Small	intestine
39	chr13:95919800-95922000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:95919800-95922600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr13:95919800-95923600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr13:95919800-95924600	Enhancers	Rectal Smooth Muscle	rectum
43	chr13:95919800-95928000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr13:95920000-95920600	Enhancers	Pancreas	Pancrea
45	chr13:95920000-95920800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr13:95920000-95920800	Enhancers	Placenta	Placenta
47	chr13:95920000-95921000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:95920000-95921000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr13:95920000-95923600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr13:95920000-95923600	Weak transcription	Duodenum Mucosa	Duodenum

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