Variant report

Variant	rs184117029
Chromosome Location	chr4:186541291-186541292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr4:186541046-186541436	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
SORBS2	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527026	chr4:186325429-186553480	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv830169	chr4:186455064-186638163	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv819075	chr4:186541262-186542752	Weak transcription Strong transcription Active TSS Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186495400-186548000	Weak transcription	Esophagus	oesophagus
2	chr4:186509000-186576400	Weak transcription	Brain Angular Gyrus	brain
3	chr4:186509400-186564200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:186519000-186549200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:186519000-186577600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:186519200-186544000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:186519200-186545800	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:186519200-186561000	Weak transcription	Fetal Kidney	kidney
9	chr4:186521200-186542000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:186521200-186542800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:186521200-186543800	Weak transcription	Brain Anterior Caudate	brain
12	chr4:186521200-186548600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:186521400-186544000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:186521600-186572200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:186523600-186577600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:186524200-186541400	Strong transcription	HSMMtube	muscle
17	chr4:186524600-186547400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:186527200-186542800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:186528400-186544000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:186528400-186544800	Weak transcription	Lung	lung
21	chr4:186529000-186545000	Weak transcription	Placenta	Placenta
22	chr4:186529400-186553400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:186530400-186544000	Weak transcription	Adipose Nuclei	Adipose
24	chr4:186530400-186545000	Weak transcription	Osteobl	bone
25	chr4:186530400-186546800	Strong transcription	Liver	Liver
26	chr4:186530800-186542600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr4:186532600-186560200	Weak transcription	Colonic Mucosa	Colon
28	chr4:186533000-186545600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:186533200-186552800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:186533800-186577600	Weak transcription	NH-A	brain
31	chr4:186534000-186544200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:186534400-186543800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:186534400-186577600	Weak transcription	HSMM	muscle
34	chr4:186535000-186559000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:186535200-186544400	Weak transcription	Spleen	Spleen
36	chr4:186535800-186545800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:186536200-186545200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr4:186536200-186547800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:186536400-186543800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:186537800-186542200	Strong transcription	Left Ventricle	heart
41	chr4:186538600-186545000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:186538600-186551000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:186538800-186552000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:186538800-186552800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:186538800-186566600	Weak transcription	Stomach Mucosa	stomach
46	chr4:186539000-186541400	Strong transcription	Pancreas	Pancrea
47	chr4:186539000-186541400	Strong transcription	HepG2	liver
48	chr4:186539000-186542000	Strong transcription	Fetal Brain Female	brain
49	chr4:186540000-186541400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:186540000-186542000	Strong transcription	Right Ventricle	heart

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