Variant report

Variant	rs34045993
Chromosome Location	chr3:61208024-61208025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10049007	0.81[ASN][1000 genomes]
rs10049287	0.81[ASN][1000 genomes]
rs10049452	0.81[ASN][1000 genomes]
rs10049454	0.81[ASN][1000 genomes]
rs11707984	0.81[ASN][1000 genomes]
rs11712122	0.81[ASN][1000 genomes]
rs12635622	0.81[ASN][1000 genomes]
rs13099397	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13320646	0.81[ASN][1000 genomes]
rs1371095	0.81[ASN][1000 genomes]
rs1550343	0.81[ASN][1000 genomes]
rs1554601	0.81[ASN][1000 genomes]
rs1916802	0.84[ASN][1000 genomes]
rs2118811	0.81[ASN][1000 genomes]
rs2365389	0.83[ASN][1000 genomes]
rs4296587	0.87[ASN][1000 genomes]
rs4535219	0.80[ASN][1000 genomes]
rs4688379	0.92[ASN][1000 genomes]
rs56076618	0.81[ASN][1000 genomes]
rs6445199	0.95[ASN][1000 genomes]
rs6807748	0.81[ASN][1000 genomes]
rs6809031	0.89[ASN][1000 genomes]
rs7631101	0.81[ASN][1000 genomes]
rs7631246	0.81[ASN][1000 genomes]
rs7636682	0.81[ASN][1000 genomes]
rs9814044	0.81[ASN][1000 genomes]
rs9831249	0.81[ASN][1000 genomes]
rs9839082	0.81[ASN][1000 genomes]
rs9844741	0.82[ASN][1000 genomes]
rs9850125	0.81[ASN][1000 genomes]
rs9851485	0.81[ASN][1000 genomes]
rs9859004	0.97[ASN][1000 genomes]
rs9871451	0.81[ASN][1000 genomes]
rs9871598	0.81[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	esv2759152	chr3:60781943-61220809	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv876866	chr3:61054494-61310328	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv876867	chr3:61054494-61474575	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv432423	chr3:61100255-61606060	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1000378	chr3:61103229-61238089	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2756994	chr3:61144427-61220809	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv876868	chr3:61145050-61282503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv532626	chr3:61159646-61388418	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv997718	chr3:61176349-61222975	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
10	nsv1008399	chr3:61176965-61461349	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61201200-61221000	Weak transcription	Primary T cells from cord blood	blood
2	chr3:61203200-61209200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:61203200-61215400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:61203200-61222200	Weak transcription	Psoas Muscle	Psoas
5	chr3:61203400-61209200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:61203400-61213400	Weak transcription	Fetal Lung	lung
7	chr3:61203400-61225600	Weak transcription	Lung	lung
8	chr3:61203400-61225600	Weak transcription	Pancreas	Pancrea
9	chr3:61206800-61208200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr3:61207000-61208200	Enhancers	Fetal Intestine Small	intestine
11	chr3:61207000-61211000	Enhancers	Fetal Brain Male	brain
12	chr3:61207200-61208200	Enhancers	Fetal Intestine Large	intestine
13	chr3:61207200-61208400	Enhancers	Liver	Liver
14	chr3:61207200-61208400	Enhancers	HepG2	liver
15	chr3:61207200-61219400	Weak transcription	GM12878-XiMat	blood
16	chr3:61207400-61208200	Enhancers	Brain Cingulate Gyrus	brain
17	chr3:61207400-61208200	Enhancers	Left Ventricle	heart
18	chr3:61207400-61208600	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr3:61207600-61208200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:61207600-61208200	Enhancers	Brain Angular Gyrus	brain
21	chr3:61207600-61208200	Enhancers	Brain Anterior Caudate	brain
22	chr3:61207600-61208200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr3:61207600-61208400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:61207600-61208600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr3:61207600-61208600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:61207600-61208800	Enhancers	Brain Germinal Matrix	brain
27	chr3:61207600-61209400	Enhancers	Ovary	ovary
28	chr3:61207800-61208200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:61207800-61208200	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr3:61207800-61208200	Active TSS	Spleen	Spleen
31	chr3:61207800-61208400	Enhancers	Duodenum Mucosa	Duodenum
32	chr3:61207800-61209000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:61208000-61208400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:61208000-61208400	Flanking Active TSS	Fetal Brain Female	brain
35	chr3:61208000-61213400	Weak transcription	Fetal Stomach	stomach
36	chr3:61208000-61225600	Weak transcription	Right Atrium	heart

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