Variant report

Variant	rs553603528
Chromosome Location	chr13:67231933-67231934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv1041133	chr13:66723731-67530595	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv2422196	chr13:67041890-67295480	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv530605	chr13:67126136-67697306	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1041542	chr13:67166358-67341919	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv541816	chr13:67166358-67341919	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1050518	chr13:67168310-67243724	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1037517	chr13:67175615-67234029	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv562130	chr13:67200654-67306783	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv900398	chr13:67212422-67343266	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv455928	chr13:67212422-67392298	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv562131	chr13:67212422-67392298	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	esv3392011	chr13:67219000-67238075	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv455929	chr13:67220803-67256279	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv562132	chr13:67220803-67256279	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv826688	chr13:67229015-67318800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv34348	chr13:67231499-67325786	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv2757539	chr13:67231505-67319982	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv2759944	chr13:67231505-67319982	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67230000-67232200	Enhancers	Brain Germinal Matrix	brain
2	chr13:67230000-67232400	Enhancers	Primary B cells from peripheral blood	blood
3	chr13:67230000-67233600	Enhancers	Hela-S3	cervix
4	chr13:67230200-67232000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr13:67230200-67232000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:67230200-67232000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:67230200-67232000	Enhancers	Brain Substantia Nigra	brain
8	chr13:67230200-67232400	Enhancers	HUVEC	blood vessel
9	chr13:67230400-67232000	Enhancers	Primary B cells from cord blood	blood
10	chr13:67230400-67232000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:67230600-67233600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:67230600-67237800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:67231000-67232000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:67231000-67232000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:67231000-67232000	Enhancers	Brain Cingulate Gyrus	brain
16	chr13:67231000-67232000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr13:67231000-67232000	Enhancers	HMEC	breast
18	chr13:67231000-67232000	Enhancers	NHDF-Ad	bronchial
19	chr13:67231000-67232000	Enhancers	NHEK	skin
20	chr13:67231000-67232000	Enhancers	Osteobl	bone
21	chr13:67231000-67232200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:67231000-67232200	Enhancers	Colon Smooth Muscle	Colon
23	chr13:67231000-67232200	Enhancers	HSMM	muscle
24	chr13:67231000-67232200	Enhancers	NH-A	brain
25	chr13:67231000-67233800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr13:67231200-67232000	Enhancers	Brain Angular Gyrus	brain
27	chr13:67231200-67232200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:67231400-67232000	Enhancers	Brain Hippocampus Middle	brain
29	chr13:67231600-67232000	Enhancers	Brain Anterior Caudate	brain
30	chr13:67231600-67232000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr13:67231600-67232400	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr13:67231600-67233600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr13:67231600-67233800	Weak transcription	Fetal Muscle Leg	muscle
34	chr13:67231600-67240200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr13:67231800-67232000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:67231800-67232200	Enhancers	Stomach Smooth Muscle	stomach
37	chr13:67231800-67232400	Flanking Active TSS	A549	lung
38	chr13:67231800-67233800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr13:67231800-67233800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr13:67231800-67234000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr13:67231800-67240000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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