Variant report

Variant	rs191669482
Chromosome Location	chr13:50195032-50195033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	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
3	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	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
6	nsv949162	chr13:50120985-50195882	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv2752657	chr13:50144995-50244150	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	esv3510552	chr13:50194960-50197650	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50190600-50195800	Weak transcription	Ovary	ovary
2	chr13:50191200-50199400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:50192400-50196600	Weak transcription	Fetal Lung	lung
4	chr13:50192800-50196600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr13:50194600-50202000	Weak transcription	Esophagus	oesophagus
6	chr13:50194800-50195800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr13:50194800-50195800	Weak transcription	Fetal Heart	heart
8	chr13:50194800-50195800	Weak transcription	Left Ventricle	heart
9	chr13:50194800-50195800	Weak transcription	Right Ventricle	heart
10	chr13:50194800-50196000	Weak transcription	Right Atrium	heart
11	chr13:50194800-50196600	Weak transcription	Adipose Nuclei	Adipose
12	chr13:50194800-50196600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr13:50194800-50198800	Weak transcription	Lung	lung
14	chr13:50194800-50198800	Weak transcription	Spleen	Spleen
15	chr13:50194800-50199200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:50194800-50199200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr13:50194800-50199600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:50194800-50199600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:50194800-50199600	Weak transcription	Gastric	stomach
20	chr13:50194800-50199600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr13:50194800-50200000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr13:50194800-50201800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr13:50194800-50202000	Weak transcription	Primary B cells from cord blood	blood
24	chr13:50194800-50202000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr13:50194800-50202000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr13:50194800-50202000	Weak transcription	Fetal Thymus	thymus
27	chr13:50194800-50202000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr13:50194800-50202200	Weak transcription	Colonic Mucosa	Colon
29	chr13:50194800-50202200	Weak transcription	K562	blood
30	chr13:50195000-50195800	Weak transcription	HepG2	liver
31	chr13:50195000-50196600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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