Variant report

Variant	rs31492
Chromosome Location	chr5:16811278-16811279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs250344	1.00[AMR][1000 genomes]
rs253339	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv3529928	chr5:16748426-16856563	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3529929	chr5:16748426-16856563	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1030550	chr5:16748966-16872084	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv597309	chr5:16791857-16837862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16795200-16829800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:16797400-16817400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:16799000-16812200	Weak transcription	Fetal Intestine Small	intestine
4	chr5:16802200-16811400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:16804400-16827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:16805600-16811800	Enhancers	Fetal Muscle Leg	muscle
7	chr5:16805800-16811400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:16807800-16820000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:16807800-16820000	Weak transcription	Esophagus	oesophagus
10	chr5:16808000-16814600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:16808200-16814000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:16809000-16814200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:16809200-16811600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:16809200-16813400	Enhancers	Lung	lung
15	chr5:16809200-16814200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:16809400-16812000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:16809400-16812600	Genic enhancers	A549	lung
18	chr5:16810200-16811800	Weak transcription	Ovary	ovary
19	chr5:16810200-16811800	Weak transcription	Spleen	Spleen
20	chr5:16810200-16812400	Weak transcription	Fetal Lung	lung
21	chr5:16810400-16811400	Enhancers	HSMMtube	muscle
22	chr5:16810400-16812000	Weak transcription	Fetal Intestine Large	intestine
23	chr5:16810400-16812200	Weak transcription	Liver	Liver
24	chr5:16810400-16812200	Weak transcription	Small Intestine	intestine
25	chr5:16810400-16812400	Weak transcription	Psoas Muscle	Psoas
26	chr5:16810400-16816600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:16810400-16817400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:16810400-16817400	Weak transcription	HMEC	breast
29	chr5:16810400-16819200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:16810400-16819200	Weak transcription	Fetal Kidney	kidney
31	chr5:16810400-16821400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:16810600-16811400	Weak transcription	Placenta	Placenta
33	chr5:16810600-16811600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:16810600-16811800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:16810600-16812000	Weak transcription	Gastric	stomach
36	chr5:16810600-16812000	Weak transcription	Left Ventricle	heart
37	chr5:16810600-16812200	Weak transcription	Colonic Mucosa	Colon
38	chr5:16810600-16812200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr5:16810600-16812400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr5:16810600-16812400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr5:16810600-16812400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:16810600-16812400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:16810600-16812400	Weak transcription	NH-A	brain
44	chr5:16810600-16812400	Weak transcription	NHLF	lung
45	chr5:16810600-16812600	Weak transcription	HUVEC	blood vessel
46	chr5:16810600-16814400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:16810600-16814600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:16810600-16815200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:16810600-16815200	Weak transcription	Hela-S3	cervix
50	chr5:16810600-16819200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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