Variant report

Variant	rs188238722
Chromosome Location	chr13:110433692-110433693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:110348737..110350886-chr13:110432945..110435656,2	K562	blood:
2	chr13:110414170..110416819-chr13:110432906..110435378,2	K562	blood:
3	chr13:110359448..110362939-chr13:110431472..110434391,4	K562	blood:
4	chr13:110387460..110391261-chr13:110433185..110436412,3	K562	blood:
5	chr13:110308109..110310593-chr13:110433626..110436596,2	K562	blood:
6	chr13:110433484..110434398-chr6:26157776..26158704,2	Hela-S3	cervix:
7	chr13:110336875..110339890-chr13:110432636..110435480,3	K562	blood:
8	chr13:110403771..110406116-chr13:110433660..110436383,2	K562	blood:
9	chr12:52448921..52449564-chr13:110433424..110434327,2	Hela-S3	cervix:
10	chr13:110430383..110434613-chr13:110438487..110441138,4	MCF-7	breast:
11	chr13:110173341..110174851-chr13:110433335..110435967,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-3	chr13:110433655-110433753	NONHSAT035119

No data

Variant related genes	Relation type
ENSG00000158373	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000185950	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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
12	esv3398645	chr13:110433476-110436324	Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
13	esv3502966	chr13:110433551-110439949	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a
14	esv3502967	chr13:110433651-110439949	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a
15	esv3502965	chr13:110433651-110441049	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a
16	esv18455	chr13:110433668-110440305	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110428600-110434200	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr13:110428800-110437800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
3	chr13:110430000-110434000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr13:110430200-110434000	Enhancers	Fetal Thymus	thymus
5	chr13:110430600-110434400	Transcr. at gene 5' and 3'	HSMM	muscle
6	chr13:110430600-110435000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:110430800-110434600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr13:110430800-110436800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
9	chr13:110431200-110434600	Active TSS	HSMMtube	muscle
10	chr13:110431400-110434000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr13:110431400-110436200	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
12	chr13:110431600-110434600	Transcr. at gene 5' and 3'	Liver	Liver
13	chr13:110431600-110435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:110431600-110437000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:110431600-110437000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:110431600-110437800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:110431800-110434000	Active TSS	Brain Germinal Matrix	brain
18	chr13:110431800-110434400	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
19	chr13:110431800-110434400	Active TSS	NHDF-Ad	bronchial
20	chr13:110431800-110434800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
21	chr13:110431800-110436400	Transcr. at gene 5' and 3'	A549	lung
22	chr13:110431800-110436400	Weak transcription	HUVEC	blood vessel
23	chr13:110432000-110433800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr13:110432000-110434000	Enhancers	Primary T cells from cord blood	blood
25	chr13:110432000-110434000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr13:110432000-110434400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr13:110432200-110434000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr13:110432200-110434000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr13:110432200-110434000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr13:110432200-110434200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr13:110432400-110433800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr13:110432400-110434600	Active TSS	Rectal Smooth Muscle	rectum
33	chr13:110432400-110435200	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
34	chr13:110432600-110433800	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
35	chr13:110432600-110434000	Flanking Active TSS	Hela-S3	cervix
36	chr13:110432600-110434200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr13:110432600-110434200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr13:110432800-110433800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr13:110432800-110433800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr13:110433000-110433800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr13:110433000-110433800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr13:110433000-110433800	Flanking Active TSS	Colonic Mucosa	Colon
43	chr13:110433000-110433800	Active TSS	Placenta Amnion	Placenta Amnion
44	chr13:110433000-110433800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
45	chr13:110433000-110434000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr13:110433000-110434000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
47	chr13:110433000-110434000	Active TSS	Fetal Brain Male	brain
48	chr13:110433000-110434200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:110433000-110434600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:110433000-110434600	Active TSS	Osteobl	bone

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