Variant report

Variant	rs550325629
Chromosome Location	chr13:51272690-51272691
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: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1037350	chr13:51272518-51447354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr13:51265200-51275600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:51266000-51274600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr13:51268200-51274800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr13:51268400-51274200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:51268400-51277200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr13:51268600-51273600	Weak transcription	HSMM	muscle
7	chr13:51268600-51273800	Weak transcription	HSMMtube	muscle
8	chr13:51268600-51274200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:51268600-51274400	Weak transcription	NHDF-Ad	bronchial
10	chr13:51268800-51273800	Weak transcription	Fetal Intestine Large	intestine
11	chr13:51268800-51274600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:51269400-51296800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:51270600-51272800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:51270600-51272800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:51270600-51272800	Enhancers	Fetal Muscle Leg	muscle
16	chr13:51270600-51272800	Enhancers	Left Ventricle	heart
17	chr13:51270600-51272800	Enhancers	Psoas Muscle	Psoas
18	chr13:51270600-51276200	Enhancers	Fetal Heart	heart
19	chr13:51270800-51275000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:51271000-51274600	Weak transcription	Aorta	Aorta
21	chr13:51271600-51272800	Enhancers	Brain Substantia Nigra	brain
22	chr13:51271600-51272800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr13:51271800-51272800	Enhancers	Dnd41	blood
24	chr13:51271800-51272800	Enhancers	HMEC	breast
25	chr13:51271800-51273000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr13:51271800-51281800	Weak transcription	Lung	lung
27	chr13:51272000-51272800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:51272000-51272800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr13:51272000-51272800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:51272000-51272800	Enhancers	Fetal Intestine Small	intestine
31	chr13:51272000-51272800	Enhancers	Fetal Thymus	thymus
32	chr13:51272000-51272800	Enhancers	NH-A	brain
33	chr13:51272200-51272800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr13:51272200-51272800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:51272200-51272800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:51272200-51272800	Enhancers	Brain Anterior Caudate	brain
37	chr13:51272200-51272800	Enhancers	Right Ventricle	heart
38	chr13:51272200-51272800	Flanking Active TSS	HUVEC	blood vessel
39	chr13:51272200-51272800	Enhancers	NHEK	skin
40	chr13:51272400-51272800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr13:51272400-51272800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr13:51272400-51272800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr13:51272400-51272800	Enhancers	Brain Cingulate Gyrus	brain
44	chr13:51272400-51272800	Enhancers	Brain Hippocampus Middle	brain
45	chr13:51272400-51272800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr13:51272400-51272800	Enhancers	Fetal Lung	lung
47	chr13:51272400-51272800	Enhancers	Fetal Stomach	stomach
48	chr13:51272400-51272800	Enhancers	Pancreas	Pancrea
49	chr13:51272400-51272800	Enhancers	Right Atrium	heart
50	chr13:51272400-51272800	Enhancers	Skeletal Muscle Female	skeletal muscle

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