Variant report

Variant	rs4253005
Chromosome Location	chr10:50747071-50747072
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:50746852..50747379-chr7:100026285..100026945,2	Hela-S3	cervix:
2	chr10:50737860..50742863-chr10:50744224..50749108,7	MCF-7	breast:
3	chr10:50746990..50749930-chr10:50758500..50760326,2	MCF-7	breast:
4	chr1:181057582..181058415-chr10:50746585..50747362,2	Hela-S3	cervix:
5	chr10:50746597..50747264-chr7:98923190..98924043,2	Hela-S3	cervix:
6	chr10:50746756..50747721-chr17:40272956..40273505,2	Hela-S3	cervix:
7	chr10:50745695..50748127-chr17:56707618..56709652,2	MCF-7	breast:
8	chr10:50738435..50741425-chr10:50746279..50748741,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108773	Chromatin interaction
ENSG00000241685	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000271237	Chromatin interaction
ENSG00000225830	Chromatin interaction
ENSG00000162783	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10745260	1.00[MEX][hapmap]
rs11101137	0.86[ASW][hapmap];0.81[TSI][hapmap];0.81[YRI][hapmap]
rs12220085	0.81[YRI][hapmap]
rs2281794	0.81[YRI][hapmap]
rs3750748	0.86[YRI][hapmap]
rs4253008	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253013	0.86[ASW][hapmap];0.81[TSI][hapmap];0.81[YRI][hapmap]
rs4253043	0.86[ASW][hapmap];0.81[TSI][hapmap];0.81[YRI][hapmap]
rs4253060	0.86[ASW][hapmap];0.81[TSI][hapmap];0.81[YRI][hapmap]
rs4253095	0.81[YRI][hapmap]
rs4838390	1.00[CEU][hapmap]
rs56184269	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56269592	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57595336	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58028107	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74133806	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74133810	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised 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	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50745000-50748000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:50745800-50747400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:50746000-50747400	Active TSS	HSMM	muscle
4	chr10:50746000-50747800	Active TSS	A549	lung
5	chr10:50746000-50748000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr10:50746000-50748000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr10:50746200-50747200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr10:50746200-50747200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:50746200-50747600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr10:50746200-50747800	Active TSS	Fetal Intestine Large	intestine
11	chr10:50746200-50748000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:50746200-50748000	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr10:50746200-50748000	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr10:50746200-50748000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:50746400-50747400	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr10:50746400-50747400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:50746400-50747400	Active TSS	Muscle Satellite Cultured Cells	--
18	chr10:50746400-50747400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:50746400-50747400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:50746400-50747400	Active TSS	Placenta Amnion	Placenta Amnion
21	chr10:50746400-50747400	Bivalent/Poised TSS	HepG2	liver
22	chr10:50746400-50747600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr10:50746400-50747600	Active TSS	Lung	lung
24	chr10:50746400-50747600	Active TSS	Small Intestine	intestine
25	chr10:50746400-50747800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr10:50746400-50747800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:50746400-50747800	Active TSS	Brain Hippocampus Middle	brain
28	chr10:50746400-50747800	Active TSS	Colon Smooth Muscle	Colon
29	chr10:50746400-50747800	Active TSS	Fetal Intestine Small	intestine
30	chr10:50746400-50747800	Active TSS	Ovary	ovary
31	chr10:50746400-50747800	Active TSS	Right Ventricle	heart
32	chr10:50746400-50748000	Active TSS	Aorta	Aorta
33	chr10:50746400-50748000	Active TSS	Brain Substantia Nigra	brain
34	chr10:50746400-50748200	Active TSS	Brain Anterior Caudate	brain
35	chr10:50746600-50747200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr10:50746600-50747200	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr10:50746600-50747200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr10:50746600-50747200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr10:50746600-50747200	Active TSS	Colonic Mucosa	Colon
40	chr10:50746600-50747200	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr10:50746600-50747200	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr10:50746600-50747200	Active TSS	GM12878-XiMat	blood
43	chr10:50746600-50747200	Active TSS	Hela-S3	cervix
44	chr10:50746600-50747200	Active TSS	HMEC	breast
45	chr10:50746600-50747200	Active TSS	HUVEC	blood vessel
46	chr10:50746600-50747200	Active TSS	K562	blood
47	chr10:50746600-50747200	Active TSS	NH-A	brain
48	chr10:50746600-50747400	Active TSS	H1 Cell Line	embryonic stem cell
49	chr10:50746600-50747400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:50746600-50747400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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