Variant report

Variant	rs10518310
Chromosome Location	chr4:120034859-120034860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:120033457..120035928-chr4:120042450..120044760,2	MCF-7	breast:
2	chr4:120033922..120036234-chr4:120037431..120039972,2	K562	blood:
3	chr4:120032730..120035461-chr4:120133316..120136122,2	MCF-7	breast:
4	chr4:120033091..120034925-chr4:120132885..120135454,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145390	Chromatin interaction
ENSG00000178636	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10023200	0.91[EUR][1000 genomes]
rs13125695	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1459060	0.85[AMR][1000 genomes]
rs2168987	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2389728	0.83[AMR][1000 genomes]
rs4834746	0.92[EUR][1000 genomes]
rs6534125	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7669449	0.82[AMR][1000 genomes]
rs7669518	0.91[EUR][1000 genomes]
rs7690820	0.90[EUR][1000 genomes]
rs995003	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1007214	chr4:120007913-120112460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1003827	chr4:120008227-120112460	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv522386	chr4:120009147-120115379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv1007619	chr4:120014898-120112460	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr4:120014800-120045000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:120024600-120036800	Weak transcription	Right Ventricle	heart
3	chr4:120028200-120038000	Weak transcription	Left Ventricle	heart
4	chr4:120028200-120038200	Weak transcription	Aorta	Aorta
5	chr4:120030800-120035400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:120033400-120035400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:120033600-120035000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:120033600-120035200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:120033600-120035400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:120033600-120035400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:120033800-120035400	Enhancers	NHEK	skin
12	chr4:120034000-120035000	Enhancers	Primary hematopoietic stem cells	blood
13	chr4:120034000-120035000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:120034000-120035000	Enhancers	A549	lung
15	chr4:120034000-120035000	Enhancers	Hela-S3	cervix
16	chr4:120034000-120035000	Enhancers	NHLF	lung
17	chr4:120034000-120035200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:120034000-120035200	Enhancers	NH-A	brain
19	chr4:120034000-120035200	Enhancers	Osteobl	bone
20	chr4:120034000-120035400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:120034000-120035400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:120034000-120035400	Enhancers	HMEC	breast
23	chr4:120034000-120035400	Enhancers	HSMM	muscle
24	chr4:120034000-120035400	Enhancers	NHDF-Ad	bronchial
25	chr4:120034200-120035000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:120034200-120035400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:120034400-120035200	Enhancers	Stomach Mucosa	stomach
28	chr4:120034400-120044800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:120034600-120035000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:120034600-120035000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:120034600-120035000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr4:120034600-120035000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr4:120034800-120035400	Enhancers	HUVEC	blood vessel
34	chr4:120034800-120036600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:120034800-120037800	Weak transcription	Adipose Nuclei	Adipose
36	chr4:120034800-120038200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:120034800-120038200	Weak transcription	HSMMtube	muscle
38	chr4:120034800-120039400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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