Variant report

Variant	rs190247441
Chromosome Location	chr5:112076442-112076443
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112064316..112067247-chr5:112074858..112077502,2	K562	blood:
2	chr5:112070264..112074990-chr5:112075213..112080518,8	K562	blood:

Variant related genes	Relation type
ENSG00000134982	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	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462387	chr5:112053911-112124369	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv599393	chr5:112053911-112124369	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112073200-112076600	Active TSS	Brain Cingulate Gyrus	brain
2	chr5:112073800-112086800	Weak transcription	Gastric	stomach
3	chr5:112074000-112095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:112074200-112077600	Weak transcription	Primary T cells from cord blood	blood
5	chr5:112074200-112078800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:112074200-112079600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:112074200-112081400	Weak transcription	Esophagus	oesophagus
8	chr5:112074200-112083800	Weak transcription	Ovary	ovary
9	chr5:112074200-112084400	Weak transcription	Pancreas	Pancrea
10	chr5:112074200-112093200	Weak transcription	Aorta	Aorta
11	chr5:112074400-112076600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr5:112074400-112077000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:112074400-112077800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:112074400-112078200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:112074400-112078400	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:112074400-112079000	Weak transcription	Small Intestine	intestine
17	chr5:112074400-112079600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:112074400-112079600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:112074400-112079600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr5:112074400-112081400	Weak transcription	Right Atrium	heart
21	chr5:112074400-112083800	Weak transcription	Psoas Muscle	Psoas
22	chr5:112074400-112083800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:112074400-112090400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr5:112074400-112090400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr5:112074400-112091000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:112074400-112093200	Weak transcription	Right Ventricle	heart
27	chr5:112074400-112094000	Weak transcription	Fetal Intestine Small	intestine
28	chr5:112074400-112095200	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:112074400-112095600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:112074400-112095600	Weak transcription	Fetal Thymus	thymus
31	chr5:112074400-112095800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr5:112074400-112102800	Weak transcription	Fetal Stomach	stomach
33	chr5:112074400-112103400	Weak transcription	Left Ventricle	heart
34	chr5:112074400-112119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:112074400-112125600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:112074400-112128600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:112074600-112090400	Weak transcription	Primary B cells from cord blood	blood
38	chr5:112074600-112103000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:112074800-112097600	Weak transcription	HMEC	breast
40	chr5:112075000-112078200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:112075000-112078600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:112075000-112093000	Weak transcription	Liver	Liver
43	chr5:112075000-112095200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:112075200-112078000	Weak transcription	Fetal Heart	heart
45	chr5:112075200-112092600	Weak transcription	HSMM	muscle
46	chr5:112075200-112094400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:112075200-112103000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:112075400-112077800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:112075400-112078200	Weak transcription	NHDF-Ad	bronchial
50	chr5:112075400-112091000	Weak transcription	Primary hematopoietic stem cells	blood

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