Variant report

Variant	rs542315127
Chromosome Location	chr13:110434888-110434889
allele	C/G
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:0)
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	chr13:110387460..110391261-chr13:110433185..110436412,3	K562	blood:
4	chr13:110367353..110370316-chr13:110433831..110435383,2	K562	blood:
5	chr13:110308109..110310593-chr13:110433626..110436596,2	K562	blood:
6	chr13:110372207..110373827-chr13:110434766..110436789,2	K562	blood:
7	chr13:110336875..110339890-chr13:110432636..110435480,3	K562	blood:
8	chr13:110372327..110374107-chr13:110434766..110436742,2	K562	blood:
9	chr13:110403771..110406116-chr13:110433660..110436383,2	K562	blood:
10	chr13:110336875..110340182-chr13:110433980..110437911,3	K562	blood:
11	chr13:110173341..110174851-chr13:110433335..110435967,2	MCF-7	breast:

No data

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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
17	esv3322480	chr13:110433801-110436499	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
18	esv3439645	chr13:110434176-110436724	Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
19	esv1820415	chr13:110434310-110439937	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a
20	nsv563088	chr13:110434310-110440278	Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	chr13:110428800-110437800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
2	chr13:110430600-110435000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:110430800-110436800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
4	chr13:110431400-110436200	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
5	chr13:110431600-110435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:110431600-110437000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:110431600-110437000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:110431600-110437800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:110431800-110436400	Transcr. at gene 5' and 3'	A549	lung
10	chr13:110431800-110436400	Weak transcription	HUVEC	blood vessel
11	chr13:110432400-110435200	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
12	chr13:110433000-110436800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr13:110433000-110436800	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
14	chr13:110433000-110436800	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:110433200-110435000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
16	chr13:110433200-110435000	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
17	chr13:110433200-110436400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr13:110433200-110437000	Transcr. at gene 5' and 3'	Ovary	ovary
19	chr13:110433200-110437000	Transcr. at gene 5' and 3'	Psoas Muscle	Psoas
20	chr13:110433400-110435000	Transcr. at gene 5' and 3'	Aorta	Aorta
21	chr13:110433400-110435200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:110433400-110435200	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
23	chr13:110433400-110435800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr13:110433400-110436400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:110433400-110436600	Genic enhancers	Spleen	Spleen
26	chr13:110433400-110436800	Transcr. at gene 5' and 3'	Left Ventricle	heart
27	chr13:110433400-110437600	Transcr. at gene 5' and 3'	Right Ventricle	heart
28	chr13:110433600-110435000	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
29	chr13:110433600-110436000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr13:110433600-110436600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
31	chr13:110433600-110436800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:110433600-110436800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
33	chr13:110433800-110436400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr13:110433800-110436400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr13:110433800-110436600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:110433800-110436800	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
37	chr13:110434000-110435000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr13:110434000-110435000	Active TSS	Brain Angular Gyrus	brain
39	chr13:110434000-110436000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr13:110434000-110436400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr13:110434000-110436800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr13:110434000-110436800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:110434000-110437000	Enhancers	Fetal Brain Male	brain
44	chr13:110434000-110437200	Weak transcription	Primary T cells from cord blood	blood
45	chr13:110434000-110437600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr13:110434000-110440200	Active TSS	Hela-S3	cervix
47	chr13:110434200-110435000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:110434200-110435000	Transcr. at gene 5' and 3'	Esophagus	oesophagus
49	chr13:110434200-110435200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr13:110434200-110435200	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain

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