Variant report

Variant	rs149575038
Chromosome Location	chr5:102888794-102888795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:102871540..102874523-chr5:102886450..102889230,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882523	chr5:102687151-103342745	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1031600	chr5:102728430-103013575	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1025561	chr5:102744280-103152495	Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv537832	chr5:102744280-103152495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1025859	chr5:102744479-103710290	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv537833	chr5:102744479-103710290	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1017730	chr5:102887970-103013575	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv537834	chr5:102887970-103013575	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1017683	chr5:102887970-103110722	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv537835	chr5:102887970-103110722	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:102874200-102897400	Weak transcription	Pancreas	Pancrea
2	chr5:102875800-102897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:102879800-102897200	Weak transcription	Brain Germinal Matrix	brain
4	chr5:102879800-102897400	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:102880200-102897200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:102881200-102897800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:102882400-102897400	Weak transcription	Psoas Muscle	Psoas
8	chr5:102882800-102897400	Weak transcription	Fetal Heart	heart
9	chr5:102882800-102897600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:102883000-102889200	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:102883200-102897400	Weak transcription	GM12878-XiMat	blood
12	chr5:102884000-102891600	Weak transcription	Gastric	stomach
13	chr5:102884200-102889200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:102884200-102894000	Weak transcription	NHEK	skin
15	chr5:102884600-102897400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:102884600-102897400	Weak transcription	HSMMtube	muscle
17	chr5:102884600-102897400	Weak transcription	NH-A	brain
18	chr5:102884600-102898000	Weak transcription	Small Intestine	intestine
19	chr5:102884800-102889200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:102884800-102893400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:102885200-102889200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:102885200-102897400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:102885200-102897400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:102885200-102897400	Weak transcription	Fetal Stomach	stomach
25	chr5:102885200-102897400	Weak transcription	Lung	lung
26	chr5:102885200-102897800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr5:102885200-102897800	Weak transcription	Esophagus	oesophagus
28	chr5:102885400-102891800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:102885400-102892000	Strong transcription	Liver	Liver
30	chr5:102885400-102894400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:102885400-102896000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:102885400-102897200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:102885400-102897600	Weak transcription	Colonic Mucosa	Colon
34	chr5:102885400-102897800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:102885400-102897800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:102885600-102889200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:102885600-102891200	Strong transcription	Adipose Nuclei	Adipose
38	chr5:102885600-102891800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:102885600-102893600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:102885600-102894200	Weak transcription	Fetal Thymus	thymus
41	chr5:102885600-102897600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr5:102885800-102891600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:102885800-102891800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:102885800-102891800	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:102885800-102891800	Strong transcription	Osteobl	bone
46	chr5:102885800-102897400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:102886000-102889600	Strong transcription	Fetal Kidney	kidney
48	chr5:102886000-102891400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr5:102886000-102891600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:102886000-102891800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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