Variant report

Variant	rs557104396
Chromosome Location	chr13:50364423-50364424
allele	C/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	chr13:50363119..50364738-chr13:50365543..50368287,2	MCF-7	breast:
5	chr13:50363476..50366040-chr13:51498906..51500626,2	K562	blood:
6	chr13:50363308..50365589-chr13:50370131..50372850,2	K562	blood:

Variant related genes	Relation type
ENSG00000102753	Chromatin interaction
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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50336200-50364800	Weak transcription	Fetal Intestine Small	intestine
2	chr13:50336800-50364600	Weak transcription	NHLF	lung
3	chr13:50349600-50365400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:50349600-50365400	Weak transcription	Lung	lung
5	chr13:50351200-50364600	Weak transcription	HSMMtube	muscle
6	chr13:50352000-50365200	Weak transcription	Fetal Thymus	thymus
7	chr13:50352600-50364800	Weak transcription	A549	lung
8	chr13:50354200-50365400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr13:50354400-50365400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:50356200-50364800	Weak transcription	NHEK	skin
11	chr13:50356400-50365200	Weak transcription	Right Ventricle	heart
12	chr13:50356600-50365000	Weak transcription	Fetal Kidney	kidney
13	chr13:50356800-50364600	Weak transcription	Primary B cells from cord blood	blood
14	chr13:50357800-50364600	Weak transcription	Fetal Stomach	stomach
15	chr13:50357800-50365200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:50358400-50364600	Weak transcription	Aorta	Aorta
17	chr13:50358400-50365200	Weak transcription	Stomach Mucosa	stomach
18	chr13:50358400-50365600	Weak transcription	Gastric	stomach
19	chr13:50359600-50365200	Weak transcription	Fetal Muscle Leg	muscle
20	chr13:50360600-50364600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr13:50361400-50364600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:50362600-50364600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr13:50362600-50365000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:50362600-50365200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr13:50362800-50364800	Enhancers	HepG2	liver
26	chr13:50362800-50365600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:50363000-50364600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr13:50363000-50364600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:50363000-50364800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr13:50363000-50364800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr13:50363000-50365200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr13:50363000-50365200	Enhancers	Brain Hippocampus Middle	brain
33	chr13:50363000-50365200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr13:50363000-50365200	Enhancers	Fetal Heart	heart
35	chr13:50363000-50365400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr13:50363200-50364600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:50363200-50364600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:50363200-50364800	Enhancers	Fetal Brain Male	brain
39	chr13:50363200-50365000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr13:50363200-50365200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr13:50363200-50365200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr13:50363400-50364800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr13:50363400-50365000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr13:50363400-50365200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr13:50363400-50365800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr13:50363600-50364600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr13:50363600-50364800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr13:50363600-50364800	Enhancers	Liver	Liver
49	chr13:50363600-50365200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr13:50363600-50365400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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