Variant report

Variant	rs577990914
Chromosome Location	chr13:111596213-111596214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111589374..111593348-chr13:111595009..111596753,3	K562	blood:
2	chr13:111595026..111596884-chr13:111600669..111603295,2	K562	blood:
3	chr13:111595257..111596791-chr13:111692860..111695650,2	K562	blood:
4	chr13:111589463..111592120-chr13:111592601..111596549,3	K562	blood:

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	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
2	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
3	nsv1050379	chr13:111516429-111701302	Genic enhancers Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv541927	chr13:111516429-111701302	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv456121	chr13:111583422-111660113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv563162	chr13:111583422-111660113	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv563163	chr13:111586298-111603888	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv563164	chr13:111595399-111625091	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv977280	chr13:111596117-111604319	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1045197	chr13:111596127-111642187	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1048206	chr13:111596127-111651763	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111591000-111596600	Weak transcription	Placenta	Placenta
2	chr13:111594600-111596400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:111594600-111597000	Enhancers	NHEK	skin
4	chr13:111595200-111596600	Weak transcription	GM12878-XiMat	blood
5	chr13:111595600-111596800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:111595800-111596600	Enhancers	HUVEC	blood vessel
7	chr13:111595800-111596600	Enhancers	NH-A	brain
8	chr13:111595800-111596800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:111595800-111597000	Enhancers	HMEC	breast
10	chr13:111595800-111597200	Enhancers	NHDF-Ad	bronchial
11	chr13:111595800-111597600	Enhancers	Hela-S3	cervix
12	chr13:111595800-111598600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:111596000-111596400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:111596000-111597200	Enhancers	HSMM	muscle
15	chr13:111596000-111597400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:111596000-111597800	Enhancers	K562	blood
17	chr13:111596000-111598400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:111596000-111598400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr13:111596200-111596600	Weak transcription	Left Ventricle	heart
20	chr13:111596200-111596600	Enhancers	HSMMtube	muscle
21	chr13:111596200-111596800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:111596200-111597000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr13:111596200-111597200	Enhancers	NHLF	lung
24	chr13:111596200-111597400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:111596200-111597400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr13:111596200-111597400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:111596200-111597600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:111596200-111597800	Enhancers	Fetal Muscle Leg	muscle

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