Variant report

Variant	rs142506063
Chromosome Location	chr5:52404771-52404772
allele	A/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	POLR2A	chr5:52404763-52405225	H1-neurons	neurons:	n/a	n/a
2	CEBPB	chr5:52404767-52405216	Hela-S3	cervix:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
3	FOXA1	chr5:52404702-52405258	T-47D	breast:	n/a	n/a
4	CEBPB	chr5:52404722-52405190	A549	lung:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
5	POLR2A	chr5:52404758-52405970	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr5:52404749-52405118	K562	blood:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
7	IRF1	chr5:52404647-52405938	K562	blood:	n/a	n/a
8	HCFC1	chr5:52404727-52406579	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:52384729..52387843-chr5:52404184..52407459,4	MCF-7	breast:
2	chr5:52282064..52285632-chr5:52404082..52406997,3	MCF-7	breast:
3	chr3:156391977..156392928-chr5:52404476..52405230,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000247796	TF binding region
MOCS2	TF binding region
ENSG00000272123	Chromatin interaction
ENSG00000243926	Chromatin interaction
ENSG00000164171	Chromatin interaction
ENSG00000163659	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv442948	chr5:52404519-52409439	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52378400-52405000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:52387600-52405000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:52389400-52404800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:52392000-52404800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:52392400-52404800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:52393000-52405000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:52393800-52404800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:52395400-52404800	Weak transcription	Aorta	Aorta
9	chr5:52395400-52405200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:52395600-52404800	Weak transcription	Colonic Mucosa	Colon
11	chr5:52395600-52404800	Weak transcription	Esophagus	oesophagus
12	chr5:52395600-52404800	Weak transcription	Fetal Brain Male	brain
13	chr5:52395600-52404800	Weak transcription	Pancreas	Pancrea
14	chr5:52395600-52404800	Weak transcription	Right Ventricle	heart
15	chr5:52395600-52405000	Weak transcription	Gastric	stomach
16	chr5:52395600-52405400	Weak transcription	Spleen	Spleen
17	chr5:52395800-52404800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:52395800-52405000	Weak transcription	Lung	lung
19	chr5:52395800-52405200	Weak transcription	Small Intestine	intestine
20	chr5:52396200-52404800	Weak transcription	Brain Angular Gyrus	brain
21	chr5:52396200-52404800	Weak transcription	Ovary	ovary
22	chr5:52396400-52404800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr5:52396600-52404800	Weak transcription	Brain Substantia Nigra	brain
24	chr5:52398000-52404800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr5:52399000-52404800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:52399600-52404800	Weak transcription	HSMMtube	muscle
27	chr5:52399600-52404800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr5:52400000-52404800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:52400000-52404800	Weak transcription	Fetal Intestine Small	intestine
30	chr5:52400200-52404800	Weak transcription	Placenta	Placenta
31	chr5:52400800-52404800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr5:52401000-52404800	Weak transcription	Fetal Muscle Leg	muscle
33	chr5:52401200-52404800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr5:52401800-52404800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:52402000-52404800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr5:52402400-52404800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr5:52402600-52404800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr5:52402600-52404800	Weak transcription	Fetal Thymus	thymus
39	chr5:52403000-52404800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr5:52403000-52404800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:52403000-52404800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:52403200-52404800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr5:52403400-52404800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:52403400-52404800	Weak transcription	Left Ventricle	heart
45	chr5:52403400-52404800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr5:52403600-52404800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr5:52403600-52404800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr5:52403600-52405000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:52403800-52404800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:52403800-52404800	Weak transcription	Brain Inferior Temporal Lobe	brain

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