Variant report

Variant	rs184669399
Chromosome Location	chr3:52537408-52537409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr3:52537370-52537434	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:52537269-52538226	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr3:52537108-52538045	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr3:52536311-52538135	HUVEC	blood vessel:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52504996..52506918-chr3:52535565..52538055,2	MCF-7	breast:
2	chr3:52535112..52538485-chr3:52564476..52567424,4	K562	blood:
3	chr3:52532062..52534916-chr3:52535199..52537993,2	K562	blood:
4	chr3:52537241..52538905-chr3:52567545..52569543,2	K562	blood:
5	chr3:52534136..52536462-chr3:52536613..52538164,2	MCF-7	breast:
6	chr3:52536407..52539525-chr3:52571038..52574825,3	K562	blood:
7	chr3:52535025..52537846-chr3:52565784..52568503,3	K562	blood:

No data

Variant related genes	Relation type
STAB1	TF binding region
ENSG00000168273	Chromatin interaction
ENSG00000168268	Chromatin interaction

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	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv834697	chr3:52400578-52579417	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv876792	chr3:52430526-52575831	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv876793	chr3:52450043-52584787	Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	esv1818902	chr3:52481406-52572056	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv590305	chr3:52535586-52569480	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv590306	chr3:52536308-52557440	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52513400-52541400	Weak transcription	A549	lung
2	chr3:52527000-52538000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:52527000-52540200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:52530000-52537600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:52530000-52538800	Weak transcription	Gastric	stomach
6	chr3:52530200-52537600	Weak transcription	Pancreas	Pancrea
7	chr3:52530200-52551800	Weak transcription	Esophagus	oesophagus
8	chr3:52530400-52552400	Weak transcription	Brain Substantia Nigra	brain
9	chr3:52530600-52558000	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:52530800-52537600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr3:52530800-52548200	Weak transcription	Right Ventricle	heart
12	chr3:52530800-52551600	Weak transcription	Fetal Intestine Small	intestine
13	chr3:52531000-52547600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr3:52533400-52540800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:52533400-52549200	Weak transcription	Fetal Muscle Leg	muscle
16	chr3:52533400-52549200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:52533400-52558200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:52533400-52559800	Weak transcription	Liver	Liver
19	chr3:52533600-52537800	Weak transcription	Colonic Mucosa	Colon
20	chr3:52533600-52566000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:52535200-52538600	Weak transcription	Placenta	Placenta
22	chr3:52535400-52538800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:52535400-52539800	Strong transcription	HUVEC	blood vessel
24	chr3:52535400-52562200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr3:52535600-52541600	Strong transcription	Lung	lung
26	chr3:52535600-52562600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr3:52536400-52538600	Enhancers	Fetal Muscle Trunk	muscle
28	chr3:52536600-52564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:52536800-52537600	Strong transcription	Spleen	Spleen
30	chr3:52536800-52539000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:52536800-52542000	Weak transcription	Fetal Stomach	stomach
32	chr3:52536800-52552600	Strong transcription	Adipose Nuclei	Adipose
33	chr3:52537000-52539000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:52537400-52537600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:52537400-52539600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:52537400-52541000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland

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