Variant report

Variant	rs17133411
Chromosome Location	chr10:4730637-4730638
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	chr10:4728591..4731075-chr10:4749795..4752617,2	K562	blood:
2	chr10:4717810..4723074-chr10:4727723..4730891,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231298	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11252656	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11252657	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11252658	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11252660	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11252662	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12572602	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498273	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242771	0.80[ASN][1000 genomes]
rs4992184	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7080649	0.82[ASN][1000 genomes]
rs924288	0.80[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	nsv894787	chr10:4385379-4857717	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv1798456	chr10:4689138-4731081	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1817443	chr10:4689138-4731081	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1831014	chr10:4689138-4731081	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1838419	chr10:4689138-4731081	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4721200-4733600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:4725800-4730800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr10:4726000-4730800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:4727000-4731200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:4727200-4733800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:4728200-4730800	Weak transcription	HUVEC	blood vessel
7	chr10:4728200-4733600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:4728200-4735600	Weak transcription	Psoas Muscle	Psoas
9	chr10:4728200-4738000	Weak transcription	Fetal Muscle Leg	muscle
10	chr10:4728400-4731800	Weak transcription	Pancreas	Pancrea
11	chr10:4728800-4730800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:4728800-4731000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr10:4729000-4731200	Enhancers	NHEK	skin
14	chr10:4729000-4731400	Enhancers	HMEC	breast
15	chr10:4729200-4733800	Weak transcription	HSMM	muscle
16	chr10:4729400-4731200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr10:4729400-4731400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:4729400-4731400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr10:4729600-4731200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr10:4729800-4731200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr10:4729800-4733600	Weak transcription	Osteobl	bone
22	chr10:4729800-4733800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:4730000-4730800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:4730000-4733800	Weak transcription	A549	lung
25	chr10:4730000-4733800	Weak transcription	NHDF-Ad	bronchial
26	chr10:4730200-4731800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:4730200-4732000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr10:4730200-4733600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:4730400-4731200	Enhancers	Adipose Nuclei	Adipose
30	chr10:4730400-4731400	Enhancers	Dnd41	blood
31	chr10:4730400-4731800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr10:4730400-4733600	Weak transcription	NH-A	brain
33	chr10:4730600-4731000	Enhancers	Fetal Heart	heart
34	chr10:4730600-4731400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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