Variant report

Variant	rs34831882
Chromosome Location	chr5:42877323-42877324
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	chr5:42876153..42877710-chr5:42880139..42881887,2	K562	blood:
2	chr5:42874819..42877698-chr5:42883856..42886524,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10036147	0.84[EUR][1000 genomes]
rs10038990	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045847	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045863	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056315	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10061198	0.84[EUR][1000 genomes]
rs10067153	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070118	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070249	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072083	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072749	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1105983	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951328	1.00[ASN][1000 genomes]
rs13168440	1.00[ASN][1000 genomes]
rs13171505	1.00[ASN][1000 genomes]
rs13172646	1.00[ASN][1000 genomes]
rs13187223	1.00[ASN][1000 genomes]
rs13189374	1.00[ASN][1000 genomes]
rs2081164	1.00[ASN][1000 genomes]
rs28705009	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28919899	1.00[ASN][1000 genomes]
rs28919913	1.00[ASN][1000 genomes]
rs34086275	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34829612	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34981544	0.84[EUR][1000 genomes]
rs35904649	1.00[ASN][1000 genomes]
rs3877899	1.00[ASN][1000 genomes]
rs4283796	1.00[ASN][1000 genomes]
rs4482913	0.84[EUR][1000 genomes]
rs6413428	1.00[ASN][1000 genomes]
rs6451649	0.84[EUR][1000 genomes]
rs6451650	0.84[EUR][1000 genomes]
rs6451651	0.84[EUR][1000 genomes]
rs6863953	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881608	0.84[EUR][1000 genomes]
rs6895458	0.84[EUR][1000 genomes]
rs6895751	0.84[EUR][1000 genomes]
rs6896899	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627561	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710105	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722920	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9292859	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
2	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
3	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
5	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv965602	chr5:42767568-42889585	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
8	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
9	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
10	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42872600-42882200	Enhancers	Fetal Intestine Large	intestine
2	chr5:42872600-42882400	Enhancers	Fetal Intestine Small	intestine
3	chr5:42875000-42878600	Enhancers	Small Intestine	intestine
4	chr5:42875400-42878800	Flanking Active TSS	HepG2	liver
5	chr5:42875800-42877400	Enhancers	Primary hematopoietic stem cells	blood
6	chr5:42876000-42879600	Enhancers	Fetal Stomach	stomach
7	chr5:42876200-42879200	Weak transcription	Lung	lung
8	chr5:42876200-42887200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:42876400-42878600	Enhancers	Colonic Mucosa	Colon
10	chr5:42876600-42877600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr5:42877000-42877400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:42877000-42877400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:42877000-42877400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr5:42877000-42877600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:42877000-42877600	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr5:42877000-42877600	Enhancers	Ovary	ovary
17	chr5:42877000-42877600	Enhancers	Right Atrium	heart
18	chr5:42877000-42877800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:42877000-42877800	Enhancers	Adipose Nuclei	Adipose
20	chr5:42877000-42878000	Enhancers	K562	blood
21	chr5:42877000-42878200	Weak transcription	Fetal Kidney	kidney
22	chr5:42877000-42878400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:42877000-42878800	Enhancers	Brain Angular Gyrus	brain
24	chr5:42877000-42879200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:42877000-42879800	Enhancers	Duodenum Mucosa	Duodenum
26	chr5:42877000-42879800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:42877000-42879800	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr5:42877000-42880400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:42877000-42882000	Enhancers	Liver	Liver
30	chr5:42877200-42877600	Active TSS	Brain Cingulate Gyrus	brain
31	chr5:42877200-42877600	Enhancers	Placenta	Placenta
32	chr5:42877200-42877800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:42877200-42878800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr5:42877200-42879400	Enhancers	Fetal Lung	lung
35	chr5:42877200-42879600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr5:42877200-42879800	Enhancers	Brain Anterior Caudate	brain
37	chr5:42877200-42879800	Enhancers	Brain Hippocampus Middle	brain
38	chr5:42877200-42879800	Enhancers	Brain Substantia Nigra	brain

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