Variant report

Variant	rs186992810
Chromosome Location	chr5:100236728-100236729
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:100226559..100228152-chr5:100235251..100237203,2	MCF-7	breast:
2	chr5:100234012..100237081-chr5:100237134..100240433,4	MCF-7	breast:
3	chr5:100235471..100237177-chr5:100239022..100241293,2	MCF-7	breast:
4	chr5:100231184..100232741-chr5:100236415..100237958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113532	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	esv1834675	chr5:100143084-100535029	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv882471	chr5:100234439-100362071	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv882472	chr5:100234439-100512338	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3333403	chr5:100235653-100237701	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100232600-100245600	Active TSS	GM12878-XiMat	blood
2	chr5:100235400-100237000	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr5:100235400-100237400	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr5:100235400-100241400	Active TSS	Duodenum Mucosa	Duodenum
5	chr5:100235600-100236800	Active TSS	NHEK	skin
6	chr5:100235600-100237000	Active TSS	K562	blood
7	chr5:100235600-100237200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr5:100235600-100238800	Active TSS	Rectal Smooth Muscle	rectum
9	chr5:100235600-100239000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:100235600-100240400	Active TSS	Brain Angular Gyrus	brain
11	chr5:100235600-100240600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:100235600-100240600	Active TSS	Thymus	Thymus
13	chr5:100235800-100236800	Active TSS	Brain Hippocampus Middle	brain
14	chr5:100235800-100237000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr5:100235800-100237000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr5:100235800-100237000	Active TSS	Psoas Muscle	Psoas
17	chr5:100235800-100237200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:100235800-100237200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr5:100235800-100237200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr5:100235800-100237200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:100235800-100237400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr5:100235800-100237400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:100235800-100237400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr5:100235800-100237400	Active TSS	Fetal Kidney	kidney
25	chr5:100235800-100238200	Active TSS	Brain Cingulate Gyrus	brain
26	chr5:100235800-100239600	Active TSS	HSMMtube	muscle
27	chr5:100235800-100239800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:100235800-100240400	Active TSS	Brain Anterior Caudate	brain
29	chr5:100235800-100240400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:100235800-100240400	Active TSS	Lung	lung
31	chr5:100235800-100240600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
32	chr5:100235800-100240600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr5:100235800-100241000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:100235800-100241400	Active TSS	Right Atrium	heart
35	chr5:100236000-100236800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:100236000-100236800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:100236000-100236800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:100236000-100236800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:100236000-100236800	Active TSS	Placenta Amnion	Placenta Amnion
40	chr5:100236000-100236800	Active TSS	NHLF	lung
41	chr5:100236000-100237000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr5:100236000-100237200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr5:100236000-100237200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:100236000-100237400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:100236000-100237400	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr5:100236000-100237400	Active TSS	Brain Substantia Nigra	brain
47	chr5:100236000-100237400	Active TSS	Fetal Brain Female	brain
48	chr5:100236000-100237400	Bivalent/Poised TSS	Stomach Mucosa	stomach
49	chr5:100236000-100239000	Active TSS	Colon Smooth Muscle	Colon
50	chr5:100236000-100239400	Active TSS	Primary T cells from cord blood	blood

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