Variant report

Variant	rs187817699
Chromosome Location	chr13:50364878-50364879
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50262508..50268089-chr13:50363531..50368771,13	MCF-7	breast:
2	chr13:50363329..50366279-chr13:50509762..50511637,2	MCF-7	breast:
3	chr13:50266035..50267824-chr13:50362193..50365135,2	K562	blood:
4	chr13:50363476..50366040-chr13:51498906..51500626,2	K562	blood:
5	chr13:50363308..50365589-chr13:50370131..50372850,2	K562	blood:

Variant related genes	Relation type
ENSG00000123178	Chromatin interaction
ENSG00000123179	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv900073	chr13:50286218-50381016	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv1818134	chr13:50306897-50374102	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv900074	chr13:50317104-50381016	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv900075	chr13:50331992-50376858	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv3421253	chr13:50364151-50368649	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50349600-50365400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:50349600-50365400	Weak transcription	Lung	lung
3	chr13:50352000-50365200	Weak transcription	Fetal Thymus	thymus
4	chr13:50354200-50365400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr13:50354400-50365400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:50356400-50365200	Weak transcription	Right Ventricle	heart
7	chr13:50356600-50365000	Weak transcription	Fetal Kidney	kidney
8	chr13:50357800-50365200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:50358400-50365200	Weak transcription	Stomach Mucosa	stomach
10	chr13:50358400-50365600	Weak transcription	Gastric	stomach
11	chr13:50359600-50365200	Weak transcription	Fetal Muscle Leg	muscle
12	chr13:50362600-50365000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:50362600-50365200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr13:50362800-50365600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr13:50363000-50365200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr13:50363000-50365200	Enhancers	Brain Hippocampus Middle	brain
17	chr13:50363000-50365200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr13:50363000-50365200	Enhancers	Fetal Heart	heart
19	chr13:50363000-50365400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr13:50363200-50365000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr13:50363200-50365200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr13:50363200-50365200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr13:50363400-50365000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr13:50363400-50365200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr13:50363400-50365800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:50363600-50365200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:50363600-50365400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr13:50363600-50365400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr13:50363800-50365000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr13:50363800-50365000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr13:50363800-50365000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr13:50363800-50365200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr13:50363800-50365200	Enhancers	Brain Cingulate Gyrus	brain
34	chr13:50363800-50365200	Enhancers	Thymus	Thymus
35	chr13:50363800-50365400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr13:50363800-50365800	Enhancers	Small Intestine	intestine
37	chr13:50364000-50365000	Enhancers	Primary hematopoietic stem cells	blood
38	chr13:50364000-50365000	Transcr. at gene 5' and 3'	Dnd41	blood
39	chr13:50364000-50365200	Enhancers	Brain Anterior Caudate	brain
40	chr13:50364000-50365200	Enhancers	Fetal Lung	lung
41	chr13:50364000-50367600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr13:50364200-50365000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr13:50364200-50365000	Flanking Active TSS	K562	blood
44	chr13:50364200-50365200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr13:50364200-50365200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr13:50364200-50365200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr13:50364200-50365200	Enhancers	HSMM	muscle
48	chr13:50364200-50365400	Flanking Active TSS	Hela-S3	cervix
49	chr13:50364200-50367800	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr13:50364400-50365000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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