Variant report

Variant	rs112133229
Chromosome Location	chr13:50272478-50272479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50265861..50268328-chr13:50270535..50273310,2	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	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv819200	chr13:50272099-50274553	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50266000-50273000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:50266000-50278200	Weak transcription	Lung	lung
3	chr13:50266000-50284200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:50266200-50272600	Weak transcription	Fetal Intestine Small	intestine
5	chr13:50266200-50272800	Weak transcription	Aorta	Aorta
6	chr13:50266200-50272800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr13:50266200-50273000	Weak transcription	Adipose Nuclei	Adipose
8	chr13:50266200-50273000	Weak transcription	Ovary	ovary
9	chr13:50266200-50274200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr13:50266200-50274400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr13:50266200-50275000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr13:50266200-50275000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:50266200-50275000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr13:50266200-50275000	Weak transcription	Fetal Brain Male	brain
15	chr13:50266200-50275000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr13:50266200-50275000	Weak transcription	Thymus	Thymus
17	chr13:50266200-50275000	Weak transcription	GM12878-XiMat	blood
18	chr13:50266200-50275000	Weak transcription	Hela-S3	cervix
19	chr13:50266200-50275000	Weak transcription	NHDF-Ad	bronchial
20	chr13:50266200-50275200	Weak transcription	Brain Hippocampus Middle	brain
21	chr13:50266200-50275200	Weak transcription	HSMMtube	muscle
22	chr13:50266200-50275400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr13:50266200-50275400	Weak transcription	Brain Substantia Nigra	brain
24	chr13:50266200-50275400	Weak transcription	Fetal Kidney	kidney
25	chr13:50266200-50275400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr13:50266200-50275400	Weak transcription	Right Ventricle	heart
27	chr13:50266200-50275400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr13:50266200-50275600	Weak transcription	Fetal Lung	lung
29	chr13:50266200-50279200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr13:50266200-50279400	Weak transcription	Brain Angular Gyrus	brain
31	chr13:50266200-50279400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr13:50266200-50282200	Weak transcription	Brain Germinal Matrix	brain
33	chr13:50266200-50285600	Weak transcription	NHLF	lung
34	chr13:50266200-50286000	Weak transcription	Psoas Muscle	Psoas
35	chr13:50266200-50289400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr13:50266200-50289600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr13:50266200-50295200	Weak transcription	Spleen	Spleen
38	chr13:50266200-50296000	Weak transcription	K562	blood
39	chr13:50266200-50298600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr13:50266200-50298800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr13:50266200-50307800	Weak transcription	Gastric	stomach
42	chr13:50266200-50316000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr13:50266400-50273000	Weak transcription	Liver	Liver
44	chr13:50266400-50274000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:50266400-50274200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr13:50266400-50274200	Weak transcription	Fetal Thymus	thymus
47	chr13:50266400-50274400	Weak transcription	HepG2	liver
48	chr13:50266400-50274600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr13:50266400-50274800	Weak transcription	Primary B cells from cord blood	blood
50	chr13:50266400-50274800	Weak transcription	Duodenum Mucosa	Duodenum

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