Variant report

Variant	rs57601353
Chromosome Location	chr10:49729181-49729182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49716373..49718615-chr10:49727056..49729940,2	MCF-7	breast:
2	chr10:49728278..49730506-chr10:49735038..49737361,2	K562	blood:
3	chr10:49655464..49657774-chr10:49727812..49730499,2	K562	blood:
4	chr10:49727015..49729249-chr10:49730487..49733103,2	MCF-7	breast:
5	chr10:49684170..49687660-chr10:49728231..49732129,4	K562	blood:

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10491040	0.81[ASN][1000 genomes]
rs10776614	0.86[ASN][1000 genomes]
rs10776615	0.86[ASN][1000 genomes]
rs10857592	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857596	0.86[ASN][1000 genomes]
rs10857598	0.81[ASN][1000 genomes]
rs11101362	1.00[ASN][1000 genomes]
rs11101364	1.00[ASN][1000 genomes]
rs11101368	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101377	0.81[ASN][1000 genomes]
rs11101381	0.86[ASN][1000 genomes]
rs11591281	1.00[ASN][1000 genomes]
rs12358311	0.86[ASN][1000 genomes]
rs12358315	0.86[ASN][1000 genomes]
rs12412164	0.81[ASN][1000 genomes]
rs1345109	0.86[ASN][1000 genomes]
rs1345110	0.86[ASN][1000 genomes]
rs1345111	0.86[ASN][1000 genomes]
rs1445148	0.86[ASN][1000 genomes]
rs1445154	0.97[ASN][1000 genomes]
rs1838568	0.86[ASN][1000 genomes]
rs1838569	0.86[ASN][1000 genomes]
rs1838570	0.86[ASN][1000 genomes]
rs1838573	0.93[ASN][1000 genomes]
rs1838574	0.90[ASN][1000 genomes]
rs1900021	0.93[ASN][1000 genomes]
rs1965170	0.86[ASN][1000 genomes]
rs2077152	0.86[ASN][1000 genomes]
rs34983450	1.00[ASN][1000 genomes]
rs4084916	0.81[ASN][1000 genomes]
rs4101278	0.93[ASN][1000 genomes]
rs41510345	0.98[ASN][1000 genomes]
rs4450130	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838617	0.81[ASN][1000 genomes]
rs56058334	0.86[ASN][1000 genomes]
rs56080723	0.93[ASN][1000 genomes]
rs56248718	0.93[ASN][1000 genomes]
rs60214846	0.80[ASN][1000 genomes]
rs66695288	1.00[ASN][1000 genomes]
rs67372461	1.00[ASN][1000 genomes]
rs7071095	0.86[ASN][1000 genomes]
rs7071480	0.86[ASN][1000 genomes]
rs7074631	0.86[ASN][1000 genomes]
rs7085183	0.86[ASN][1000 genomes]
rs7085335	0.84[ASN][1000 genomes]
rs7088010	0.86[ASN][1000 genomes]
rs7089439	0.95[ASN][1000 genomes]
rs7094216	0.86[ASN][1000 genomes]
rs7098068	0.86[ASN][1000 genomes]
rs72785120	0.93[ASN][1000 genomes]
rs7350424	0.86[ASN][1000 genomes]
rs7350439	0.86[ASN][1000 genomes]
rs7904456	0.86[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	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

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	chr10:49721400-49732000	Weak transcription	HMEC	breast
3	chr10:49723800-49729600	Weak transcription	HSMM	muscle
4	chr10:49724000-49731000	Weak transcription	HUVEC	blood vessel
5	chr10:49725000-49730000	Enhancers	Primary hematopoietic stem cells	blood
6	chr10:49725400-49730400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:49725800-49730200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:49726000-49729200	Enhancers	Fetal Thymus	thymus
9	chr10:49726800-49729800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:49727000-49731000	Weak transcription	Pancreas	Pancrea
11	chr10:49727200-49729800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:49727200-49729800	Weak transcription	K562	blood
13	chr10:49727400-49729400	Strong transcription	NHLF	lung
14	chr10:49727400-49729600	Weak transcription	Osteobl	bone
15	chr10:49727400-49730200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr10:49727600-49729800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr10:49727800-49730000	Weak transcription	Brain Substantia Nigra	brain
18	chr10:49727800-49730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:49728000-49730800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr10:49728000-49730800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr10:49728200-49730200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:49728200-49731000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:49728400-49729600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:49728400-49730000	Enhancers	Brain Cingulate Gyrus	brain
25	chr10:49728400-49731000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:49728600-49729800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:49728600-49730200	Weak transcription	Brain Hippocampus Middle	brain
28	chr10:49728800-49729200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr10:49728800-49730800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr10:49729000-49729600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr10:49729000-49729600	Weak transcription	NHDF-Ad	bronchial
32	chr10:49729000-49729800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr10:49729000-49730000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:49729000-49730600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr10:49729000-49731000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:49729000-49731000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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