Variant report

Variant	rs199630638
Chromosome Location	chr13:110431999-110432000
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:110404473..110407455-chr13:110429957..110432658,3	K562	blood:
2	chr13:110359448..110362939-chr13:110431472..110434391,4	K562	blood:
3	chr13:110431371..110432927-chr13:111365497..111367425,2	K562	blood:
4	chr13:110430383..110434613-chr13:110438487..110441138,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185950	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000153487	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv826790	chr13:110395165-110463032	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv826791	chr13:110397733-110462553	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv826792	chr13:110398678-110462209	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1047427	chr13:110412864-110446417	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv826793	chr13:110423187-110448628	Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv826794	chr13:110424916-110448628	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
9	nsv826795	chr13:110425465-110448628	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
10	nsv826796	chr13:110430886-110442431	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a
11	esv1834749	chr13:110431891-110441483	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110417000-110432400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr13:110423000-110433400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:110423200-110433200	Weak transcription	Gastric	stomach
4	chr13:110424800-110433200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:110425000-110432000	Weak transcription	Fetal Stomach	stomach
6	chr13:110425000-110433400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:110425000-110433400	Weak transcription	Esophagus	oesophagus
8	chr13:110425000-110433400	Weak transcription	Pancreas	Pancrea
9	chr13:110425000-110433400	Weak transcription	Spleen	Spleen
10	chr13:110425400-110432600	Weak transcription	Fetal Intestine Small	intestine
11	chr13:110428200-110433400	Active TSS	Right Ventricle	heart
12	chr13:110428600-110434200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr13:110428800-110433600	Enhancers	Fetal Heart	heart
14	chr13:110428800-110437800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
15	chr13:110429000-110432000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:110429600-110433400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr13:110430000-110432400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr13:110430000-110433200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr13:110430000-110433600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr13:110430000-110434000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr13:110430200-110432400	Enhancers	Fetal Intestine Large	intestine
22	chr13:110430200-110432600	Enhancers	Primary hematopoietic stem cells	blood
23	chr13:110430200-110432600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr13:110430200-110433200	Active TSS	Ovary	ovary
25	chr13:110430200-110434000	Enhancers	Fetal Thymus	thymus
26	chr13:110430400-110432000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr13:110430400-110432200	Enhancers	Primary B cells from peripheral blood	blood
28	chr13:110430400-110432200	Enhancers	Thymus	Thymus
29	chr13:110430400-110432200	Enhancers	NHLF	lung
30	chr13:110430400-110433000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:110430400-110433000	Enhancers	Fetal Lung	lung
32	chr13:110430400-110433000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr13:110430400-110433200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:110430600-110433600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr13:110430600-110434400	Transcr. at gene 5' and 3'	HSMM	muscle
36	chr13:110430600-110435000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr13:110430800-110432000	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr13:110430800-110432000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr13:110430800-110432200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr13:110430800-110432200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr13:110430800-110432200	Active TSS	Aorta	Aorta
42	chr13:110430800-110433600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr13:110430800-110433600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr13:110430800-110434600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr13:110430800-110436800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
46	chr13:110431000-110432000	Weak transcription	Colonic Mucosa	Colon
47	chr13:110431000-110432000	Enhancers	K562	blood
48	chr13:110431000-110432400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:110431000-110432600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr13:110431000-110432800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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