Variant report

Variant	rs4253177
Chromosome Location	chr10:50688758-50688759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50686326..50689045-chr10:50690550..50693258,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1998592	1.00[MEX][hapmap]
rs4012230	1.00[MEX][hapmap]
rs4253033	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253063	0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4253194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4838511	1.00[EUR][1000 genomes]
rs7904886	1.00[EUR][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	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
6	nsv1051636	chr10:50675292-50732280	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50662200-50691600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr10:50662400-50690000	Weak transcription	Stomach Mucosa	stomach
3	chr10:50662400-50693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:50662600-50691400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:50663200-50693800	Weak transcription	HepG2	liver
6	chr10:50667800-50707400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr10:50668000-50713400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr10:50670600-50691600	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr10:50671800-50693800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:50672000-50691800	Strong transcription	Primary T cells from cord blood	blood
11	chr10:50672200-50691800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:50672400-50691600	Strong transcription	Ovary	ovary
13	chr10:50672600-50691800	Strong transcription	Adipose Nuclei	Adipose
14	chr10:50672800-50691600	Strong transcription	HUVEC	blood vessel
15	chr10:50672800-50691800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr10:50673000-50690000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:50673200-50691800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr10:50673400-50691600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr10:50673600-50691600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:50673600-50692800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:50673600-50693200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr10:50674000-50690000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr10:50674000-50691600	Strong transcription	HMEC	breast
24	chr10:50674000-50691600	Strong transcription	Osteobl	bone
25	chr10:50674200-50691600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:50674200-50691600	Strong transcription	Liver	Liver
27	chr10:50674400-50690400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr10:50674400-50691600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr10:50674400-50691600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr10:50674400-50691800	Strong transcription	NHEK	skin
31	chr10:50674600-50691400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr10:50674600-50691600	Strong transcription	Primary B cells from cord blood	blood
33	chr10:50674600-50691600	Strong transcription	Left Ventricle	heart
34	chr10:50675400-50691600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:50675600-50691600	Strong transcription	Fetal Intestine Large	intestine
36	chr10:50675800-50691600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr10:50677000-50689800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:50678800-50692200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr10:50679800-50691600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr10:50680200-50691600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:50680200-50692400	Weak transcription	Fetal Heart	heart
42	chr10:50680400-50691600	Strong transcription	HSMMtube	muscle
43	chr10:50682800-50692600	Weak transcription	NHDF-Ad	bronchial
44	chr10:50683800-50691600	Strong transcription	Aorta	Aorta
45	chr10:50684200-50695400	Weak transcription	Fetal Thymus	thymus
46	chr10:50684800-50688800	Weak transcription	HSMM	muscle
47	chr10:50685000-50723400	Weak transcription	NHLF	lung
48	chr10:50685200-50691000	Strong transcription	Hela-S3	cervix
49	chr10:50685200-50691600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr10:50685800-50694600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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