Variant report

Variant	rs185937118
Chromosome Location	chr13:50364621-50364622
allele	G/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
ENSG00000123179	Chromatin interaction
ENSG00000102753	Chromatin interaction
ENSG00000123178	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:119 , 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	chr13:50349600-50365400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:50349600-50365400	Weak transcription	Lung	lung
4	chr13:50352000-50365200	Weak transcription	Fetal Thymus	thymus
5	chr13:50352600-50364800	Weak transcription	A549	lung
6	chr13:50354200-50365400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr13:50354400-50365400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:50356200-50364800	Weak transcription	NHEK	skin
9	chr13:50356400-50365200	Weak transcription	Right Ventricle	heart
10	chr13:50356600-50365000	Weak transcription	Fetal Kidney	kidney
11	chr13:50357800-50365200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:50358400-50365200	Weak transcription	Stomach Mucosa	stomach
13	chr13:50358400-50365600	Weak transcription	Gastric	stomach
14	chr13:50359600-50365200	Weak transcription	Fetal Muscle Leg	muscle
15	chr13:50362600-50365000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:50362600-50365200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr13:50362800-50364800	Enhancers	HepG2	liver
18	chr13:50362800-50365600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:50363000-50364800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr13:50363000-50364800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr13:50363000-50365200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr13:50363000-50365200	Enhancers	Brain Hippocampus Middle	brain
23	chr13:50363000-50365200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr13:50363000-50365200	Enhancers	Fetal Heart	heart
25	chr13:50363000-50365400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr13:50363200-50364800	Enhancers	Fetal Brain Male	brain
27	chr13:50363200-50365000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr13:50363200-50365200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr13:50363200-50365200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr13:50363400-50364800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr13:50363400-50365000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr13:50363400-50365200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr13:50363400-50365800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr13:50363600-50364800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr13:50363600-50364800	Enhancers	Liver	Liver
36	chr13:50363600-50365200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:50363600-50365400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr13:50363600-50365400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr13:50363800-50364800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:50363800-50364800	Enhancers	Primary T cells fromperipheralblood	blood
41	chr13:50363800-50364800	Enhancers	Psoas Muscle	Psoas
42	chr13:50363800-50365000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr13:50363800-50365000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr13:50363800-50365000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr13:50363800-50365200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:50363800-50365200	Enhancers	Brain Cingulate Gyrus	brain
47	chr13:50363800-50365200	Enhancers	Thymus	Thymus
48	chr13:50363800-50365400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr13:50363800-50365800	Enhancers	Small Intestine	intestine
50	chr13:50364000-50364800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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