Variant report

Variant	rs797498
Chromosome Location	chr13:51272084-51272085
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51271422..51272928-chr13:51274925..51277429,2	K562	blood:

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

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

rs_ID	r²[population]
rs1772866	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2540523	0.92[CHB][hapmap]
rs706593	0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs797496	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs797504	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs797505	0.93[ASN][1000 genomes]
rs797506	0.93[ASN][1000 genomes]
rs797507	0.91[ASN][1000 genomes]
rs797509	0.89[AFR][1000 genomes];0.87[ASN][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51265200-51275600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:51266000-51274600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr13:51266400-51272200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:51268200-51272400	Weak transcription	Fetal Stomach	stomach
5	chr13:51268200-51272400	Weak transcription	Right Atrium	heart
6	chr13:51268200-51274800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr13:51268400-51272600	Weak transcription	Stomach Mucosa	stomach
8	chr13:51268400-51274200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:51268400-51277200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr13:51268600-51272200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:51268600-51272200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr13:51268600-51272400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr13:51268600-51272400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr13:51268600-51272400	Weak transcription	Fetal Lung	lung
15	chr13:51268600-51272400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr13:51268600-51272400	Weak transcription	Osteobl	bone
17	chr13:51268600-51273600	Weak transcription	HSMM	muscle
18	chr13:51268600-51273800	Weak transcription	HSMMtube	muscle
19	chr13:51268600-51274200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:51268600-51274400	Weak transcription	NHDF-Ad	bronchial
21	chr13:51268800-51273800	Weak transcription	Fetal Intestine Large	intestine
22	chr13:51268800-51274600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:51269200-51272200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:51269400-51296800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:51270600-51272800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:51270600-51272800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:51270600-51272800	Enhancers	Fetal Muscle Leg	muscle
28	chr13:51270600-51272800	Enhancers	Left Ventricle	heart
29	chr13:51270600-51272800	Enhancers	Psoas Muscle	Psoas
30	chr13:51270600-51276200	Enhancers	Fetal Heart	heart
31	chr13:51270800-51275000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:51271000-51274600	Weak transcription	Aorta	Aorta
33	chr13:51271200-51272400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr13:51271400-51272200	Enhancers	HUVEC	blood vessel
35	chr13:51271400-51272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr13:51271400-51272600	Enhancers	Adipose Nuclei	Adipose
37	chr13:51271600-51272800	Enhancers	Brain Substantia Nigra	brain
38	chr13:51271600-51272800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr13:51271800-51272200	Weak transcription	Brain Anterior Caudate	brain
40	chr13:51271800-51272200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:51271800-51272200	Weak transcription	Right Ventricle	heart
42	chr13:51271800-51272600	Enhancers	Primary T cells from cord blood	blood
43	chr13:51271800-51272800	Enhancers	Dnd41	blood
44	chr13:51271800-51272800	Enhancers	HMEC	breast
45	chr13:51271800-51273000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr13:51271800-51281800	Weak transcription	Lung	lung
47	chr13:51272000-51272400	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr13:51272000-51272400	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr13:51272000-51272800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr13:51272000-51272800	Enhancers	Cortex derived primary cultured neurospheres	brain

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