Variant report

Variant	rs12777004
Chromosome Location	chr10:49709711-49709712
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49707073..49711100-chr10:49713490..49716250,3	K562	blood:
2	chr10:49677417..49680316-chr10:49708989..49711504,2	K562	blood:
3	chr10:49692340..49695073-chr10:49708069..49710836,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11101344	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11101345	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101348	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11101349	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101350	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11101351	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101352	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11101353	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12220948	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12763969	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12768718	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278676	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4838413	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838414	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838415	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4838608	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4838609	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838610	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537563	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7093185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7098760	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7895625	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7898936	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7910327	0.90[ASN][1000 genomes]
rs935273	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv516006	chr10:49707942-49723300	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49701600-49716400	Weak transcription	Right Atrium	heart
3	chr10:49702400-49718200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:49705400-49716600	Weak transcription	Brain Angular Gyrus	brain
5	chr10:49705600-49715600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:49705800-49713000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:49706000-49710200	Weak transcription	Fetal Muscle Leg	muscle
8	chr10:49706000-49710600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:49706000-49716600	Weak transcription	HMEC	breast
10	chr10:49706000-49723400	Weak transcription	NH-A	brain
11	chr10:49706200-49709800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:49706200-49712400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:49706200-49712400	Weak transcription	Fetal Thymus	thymus
14	chr10:49706200-49713800	Weak transcription	HSMM	muscle
15	chr10:49706200-49716400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:49706400-49710400	Weak transcription	HSMMtube	muscle
17	chr10:49706800-49710000	Weak transcription	K562	blood
18	chr10:49707400-49710000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:49707400-49716600	Weak transcription	Fetal Stomach	stomach
20	chr10:49707600-49710600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:49707600-49716600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr10:49707800-49709800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr10:49708400-49710800	Enhancers	GM12878-XiMat	blood
24	chr10:49709000-49709800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:49709200-49709800	Enhancers	NHLF	lung
26	chr10:49709200-49711200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr10:49709200-49711200	Genic enhancers	NHDF-Ad	bronchial
28	chr10:49709200-49712000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr10:49709200-49712400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:49709200-49720600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:49709400-49711000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr10:49709400-49712800	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr10:49709400-49713000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:49709600-49710000	Weak transcription	Ovary	ovary
35	chr10:49709600-49711600	Strong transcription	Osteobl	bone
36	chr10:49709600-49716800	Weak transcription	Brain Inferior Temporal Lobe	brain

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