Variant report

Variant	rs562131975
Chromosome Location	chr5:58718400-58718401
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv881705	chr5:58668669-58745872	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1028022	chr5:58673780-58786468	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1034656	chr5:58674724-58755580	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv598253	chr5:58675538-58754510	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3412737	chr5:58717969-58718941	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58705600-58751400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:58709800-58756800	Weak transcription	Aorta	Aorta
3	chr5:58712400-58719600	Weak transcription	Psoas Muscle	Psoas
4	chr5:58714800-58731000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:58715400-58718400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:58715800-58718400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:58716000-58756600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:58716200-58722800	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:58717000-58719200	Weak transcription	Fetal Brain Male	brain
10	chr5:58717000-58719400	Enhancers	Fetal Intestine Small	intestine
11	chr5:58717400-58719800	Enhancers	Fetal Intestine Large	intestine
12	chr5:58717800-58718400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:58717800-58718600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:58717800-58719400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:58717800-58719600	Enhancers	Duodenum Mucosa	Duodenum
16	chr5:58718000-58718400	Enhancers	Small Intestine	intestine
17	chr5:58718000-58718600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:58718000-58718600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:58718000-58719200	Enhancers	Fetal Heart	heart
20	chr5:58718000-58719200	Enhancers	Fetal Lung	lung
21	chr5:58718000-58720000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:58718200-58718400	Enhancers	Fetal Brain Female	brain
23	chr5:58718200-58718400	Strong transcription	A549	lung
24	chr5:58718200-58718600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:58718200-58719400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr5:58718200-58719400	Weak transcription	HSMMtube	muscle
27	chr5:58718200-58719800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:58718400-58718800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:58718400-58718800	Weak transcription	A549	lung
30	chr5:58718400-58719000	Weak transcription	Fetal Brain Female	brain
31	chr5:58718400-58720600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr5:58718400-58721800	Weak transcription	Small Intestine	intestine

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