Variant report

Variant	rs797494
Chromosome Location	chr13:51265605-51265606
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs706593	0.82[EUR][1000 genomes]
rs797509	0.86[EUR][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	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription 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	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51254400-51267800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr13:51256200-51268400	Enhancers	Fetal Thymus	thymus
3	chr13:51258800-51265800	Weak transcription	Right Ventricle	heart
4	chr13:51259800-51266000	Weak transcription	Spleen	Spleen
5	chr13:51259800-51268400	Weak transcription	Small Intestine	intestine
6	chr13:51260000-51267200	Weak transcription	Psoas Muscle	Psoas
7	chr13:51260200-51265800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr13:51260200-51265800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:51260200-51267200	Weak transcription	Right Atrium	heart
10	chr13:51260200-51268000	Weak transcription	HMEC	breast
11	chr13:51260400-51265800	Weak transcription	NHDF-Ad	bronchial
12	chr13:51260600-51265800	Weak transcription	Fetal Lung	lung
13	chr13:51261200-51267600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr13:51261800-51267200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:51262200-51267200	Weak transcription	Brain Substantia Nigra	brain
16	chr13:51264200-51265800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr13:51264200-51266600	Enhancers	Fetal Muscle Leg	muscle
18	chr13:51264400-51266600	Enhancers	Dnd41	blood
19	chr13:51264600-51266000	Enhancers	Thymus	Thymus
20	chr13:51264600-51269400	Enhancers	Left Ventricle	heart
21	chr13:51264800-51265800	Weak transcription	Placenta	Placenta
22	chr13:51264800-51267200	Enhancers	HUVEC	blood vessel
23	chr13:51264800-51267600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:51264800-51267800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr13:51265000-51266200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:51265000-51267800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:51265000-51268600	Enhancers	Brain Hippocampus Middle	brain
28	chr13:51265000-51268600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr13:51265200-51265800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr13:51265200-51266000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr13:51265200-51266200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:51265200-51266400	Enhancers	HSMM	muscle
33	chr13:51265200-51266600	Enhancers	K562	blood
34	chr13:51265200-51267600	Weak transcription	Brain Germinal Matrix	brain
35	chr13:51265200-51267600	Enhancers	Osteobl	bone
36	chr13:51265200-51275600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:51265400-51266000	Enhancers	Primary T cells from cord blood	blood
38	chr13:51265400-51266000	Enhancers	Brain Angular Gyrus	brain
39	chr13:51265400-51266200	Enhancers	Fetal Intestine Small	intestine
40	chr13:51265400-51266400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:51265400-51266800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:51265400-51267800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:51265400-51268600	Enhancers	HSMMtube	muscle
44	chr13:51265400-51269200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr13:51265600-51266000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr13:51265600-51266000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr13:51265600-51266200	Enhancers	Brain Anterior Caudate	brain
48	chr13:51265600-51266200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr13:51265600-51266400	Enhancers	Rectal Smooth Muscle	rectum
50	chr13:51265600-51267200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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