Variant report

Variant	rs12265171
Chromosome Location	chr10:49728473-49728474
allele	A/G
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	chr10:49716373..49718615-chr10:49727056..49729940,2	MCF-7	breast:
2	chr10:49725899..49728759-chr10:49729090..49732756,3	MCF-7	breast:
3	chr10:49728278..49730506-chr10:49735038..49737361,2	K562	blood:
4	chr10:49655464..49657774-chr10:49727812..49730499,2	K562	blood:
5	chr10:49715470..49718862-chr10:49725582..49728629,3	K562	blood:
6	chr10:49727015..49729249-chr10:49730487..49733103,2	MCF-7	breast:
7	chr10:49667304..49669133-chr10:49726390..49728865,2	K562	blood:
8	chr10:49684170..49687660-chr10:49728231..49732129,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10745277	0.84[ASN][1000 genomes]
rs10776607	0.85[ASN][1000 genomes]
rs10776608	0.84[ASN][1000 genomes]
rs10776609	0.85[ASN][1000 genomes]
rs10776610	0.85[ASN][1000 genomes]
rs10857583	0.85[ASN][1000 genomes]
rs10857584	0.84[ASN][1000 genomes]
rs10857585	0.85[ASN][1000 genomes]
rs10857586	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10857590	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11101343	0.85[ASN][1000 genomes]
rs11101358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11101370	0.90[ASN][1000 genomes]
rs11101371	0.90[ASN][1000 genomes]
rs11101373	0.86[ASN][1000 genomes]
rs12249815	0.84[ASN][1000 genomes]
rs1814471	0.82[ASN][1000 genomes]
rs1947075	0.81[ASN][1000 genomes]
rs4838412	0.87[ASN][1000 genomes]
rs4838417	0.81[ASN][1000 genomes]
rs4838607	0.85[ASN][1000 genomes]
rs4838611	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55665699	0.90[ASN][1000 genomes]
rs57632129	0.86[ASN][1000 genomes]
rs7913593	0.80[ASN][1000 genomes]
rs7913612	0.85[ASN][1000 genomes]
rs9971117	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:38 , 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	chr10:49726200-49729000	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr10:49726600-49728800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:49726600-49729000	Enhancers	NHDF-Ad	bronchial
12	chr10:49726800-49729800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:49727000-49731000	Weak transcription	Pancreas	Pancrea
14	chr10:49727200-49729800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:49727200-49729800	Weak transcription	K562	blood
16	chr10:49727400-49728600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:49727400-49729400	Strong transcription	NHLF	lung
18	chr10:49727400-49729600	Weak transcription	Osteobl	bone
19	chr10:49727400-49730200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr10:49727600-49729000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr10:49727600-49729800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:49727800-49728800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:49727800-49730000	Weak transcription	Brain Substantia Nigra	brain
24	chr10:49727800-49730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:49728000-49728600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr10:49728000-49730800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr10:49728000-49730800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr10:49728200-49728600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr10:49728200-49730200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr10:49728200-49731000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr10:49728400-49728600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:49728400-49728600	Enhancers	Brain Hippocampus Middle	brain
33	chr10:49728400-49728600	Bivalent Enhancer	Fetal Stomach	stomach
34	chr10:49728400-49728800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr10:49728400-49729000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:49728400-49729600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:49728400-49730000	Enhancers	Brain Cingulate Gyrus	brain
38	chr10:49728400-49731000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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