Variant report

Variant	rs559594056
Chromosome Location	chr13:53232274-53232275
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:53189836..53192500-chr13:53230172..53233036,2	MCF-7	breast:
2	chr13:53226553..53228501-chr13:53232200..53235094,4	K562	blood:
3	chr13:53227001..53228645-chr13:53232234..53234717,3	K562	blood:

Variant related genes	Relation type
ENSG00000250299	Chromatin interaction
ENSG00000165416	Chromatin interaction
ENSG00000139675	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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	54 gene(s)	inside rSNPs	diseases
3	nsv820041	chr13:53061338-53280588	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	22 gene(s)	inside rSNPs	diseases
4	nsv1044949	chr13:53071140-53289426	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv819201	chr13:53137490-53240330	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1044051	chr13:53139132-53287023	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1038942	chr13:53139132-53289426	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1039911	chr13:53139132-53303074	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1037189	chr13:53173013-53287060	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv541775	chr13:53173013-53287060	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv1047265	chr13:53173013-53311419	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv541776	chr13:53173013-53311419	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv974091	chr13:53230050-53232950	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
15	esv3363958	chr13:53231751-53235049	Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53227600-53235000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:53227800-53238600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:53227800-53238800	Weak transcription	Esophagus	oesophagus
4	chr13:53227800-53260000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:53228000-53251000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:53228200-53256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:53228400-53233400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:53228400-53233400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr13:53228400-53234200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr13:53228400-53234200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr13:53228400-53234800	Weak transcription	Aorta	Aorta
12	chr13:53228400-53234800	Weak transcription	Fetal Intestine Small	intestine
13	chr13:53228400-53235400	Weak transcription	Lung	lung
14	chr13:53228400-53236200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr13:53228400-53236200	Weak transcription	HSMMtube	muscle
16	chr13:53228400-53242000	Weak transcription	Thymus	Thymus
17	chr13:53228400-53254600	Weak transcription	Colonic Mucosa	Colon
18	chr13:53228600-53232400	Strong transcription	Primary B cells from cord blood	blood
19	chr13:53228600-53254600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr13:53228800-53232400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:53228800-53232400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr13:53228800-53233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr13:53228800-53234400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:53228800-53234400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr13:53228800-53234400	Weak transcription	Psoas Muscle	Psoas
26	chr13:53228800-53234400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr13:53228800-53235000	Weak transcription	Fetal Stomach	stomach
28	chr13:53228800-53237600	Weak transcription	A549	lung
29	chr13:53228800-53240400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr13:53228800-53243400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr13:53228800-53244200	Strong transcription	HSMM	muscle
32	chr13:53229000-53232400	Weak transcription	K562	blood
33	chr13:53229000-53232600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:53229000-53234600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr13:53229000-53236200	Weak transcription	Fetal Kidney	kidney
36	chr13:53229000-53276600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr13:53229200-53234400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr13:53229200-53234400	Weak transcription	Primary T cells from cord blood	blood
39	chr13:53229200-53242800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr13:53229200-53247600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr13:53229200-53268000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr13:53229400-53254600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:53229600-53234400	Weak transcription	Left Ventricle	heart
44	chr13:53229600-53234600	Weak transcription	NHLF	lung
45	chr13:53229600-53234800	Weak transcription	Pancreas	Pancrea
46	chr13:53229600-53235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:53229600-53242600	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr13:53229800-53234400	Weak transcription	Right Ventricle	heart
49	chr13:53229800-53234800	Weak transcription	Fetal Muscle Leg	muscle
50	chr13:53229800-53247600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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