Variant report

Variant	rs1990985
Chromosome Location	chr5:58718022-58718023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10038321	0.94[AFR][1000 genomes]
rs1379297	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1030716	chr5:58636116-58718362	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	esv3412737	chr5:58717969-58718941	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 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	chr5:58708600-58718200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:58709800-58756800	Weak transcription	Aorta	Aorta
4	chr5:58712400-58719600	Weak transcription	Psoas Muscle	Psoas
5	chr5:58714200-58718200	Weak transcription	Fetal Brain Female	brain
6	chr5:58714800-58731000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:58715400-58718400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:58715800-58718400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:58716000-58756600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:58716200-58722800	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:58717000-58719200	Weak transcription	Fetal Brain Male	brain
12	chr5:58717000-58719400	Enhancers	Fetal Intestine Small	intestine
13	chr5:58717400-58719800	Enhancers	Fetal Intestine Large	intestine
14	chr5:58717800-58718200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:58717800-58718200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr5:58717800-58718400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:58717800-58718600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:58717800-58719400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:58717800-58719600	Enhancers	Duodenum Mucosa	Duodenum
20	chr5:58718000-58718200	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr5:58718000-58718200	Genic enhancers	A549	lung
22	chr5:58718000-58718400	Enhancers	Small Intestine	intestine
23	chr5:58718000-58718600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:58718000-58718600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr5:58718000-58719200	Enhancers	Fetal Heart	heart
26	chr5:58718000-58719200	Enhancers	Fetal Lung	lung
27	chr5:58718000-58720000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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