Variant report

Variant	rs17001362
Chromosome Location	chr4:77008967-77008968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76982557..76984766-chr4:77008579..77010146,2	K562	blood:
2	chr4:77006287..77011420-chr4:77011515..77015802,5	K562	blood:
3	chr4:76931634..76933510-chr4:77007552..77010198,2	K562	blood:

Variant related genes	Relation type
ENSG00000156219	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs17001246	1.00[AMR][1000 genomes]
rs17001265	1.00[AMR][1000 genomes]
rs17001277	1.00[AMR][1000 genomes]
rs17001289	1.00[AMR][1000 genomes]
rs17001354	1.00[AMR][1000 genomes]
rs17001355	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17001359	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17001366	1.00[AMR][1000 genomes]
rs17001367	1.00[AMR][1000 genomes]
rs17001369	1.00[YRI][hapmap]
rs17001596	1.00[AMR][1000 genomes]
rs17001619	1.00[AMR][1000 genomes]
rs17001626	1.00[AMR][1000 genomes]
rs17001627	1.00[AMR][1000 genomes]
rs17001636	1.00[AMR][1000 genomes]
rs17001639	1.00[AMR][1000 genomes]
rs41457447	1.00[AMR][1000 genomes]
rs4382064	1.00[AMR][1000 genomes]
rs4487370	1.00[AMR][1000 genomes]
rs55998455	1.00[AMR][1000 genomes]
rs56252973	1.00[AMR][1000 genomes]
rs56350100	1.00[AMR][1000 genomes]
rs56653729	1.00[AMR][1000 genomes]
rs57005804	1.00[AMR][1000 genomes]
rs57415085	1.00[AMR][1000 genomes]
rs58605269	1.00[AMR][1000 genomes]
rs60337837	1.00[AMR][1000 genomes]
rs60367545	1.00[AMR][1000 genomes]
rs60885790	1.00[AMR][1000 genomes]
rs61253655	1.00[AMR][1000 genomes]
rs61347786	1.00[AMR][1000 genomes]
rs61606865	1.00[AMR][1000 genomes]
rs62639704	1.00[AMR][1000 genomes]
rs73825715	1.00[AMR][1000 genomes]
rs73825720	1.00[AMR][1000 genomes]
rs73825882	1.00[AMR][1000 genomes]
rs73826307	1.00[AMR][1000 genomes]
rs73826308	1.00[AMR][1000 genomes]
rs73826311	0.82[AFR][1000 genomes]
rs73826312	1.00[AMR][1000 genomes]
rs73826315	1.00[AMR][1000 genomes]
rs73826333	1.00[AMR][1000 genomes]
rs73826378	1.00[AMR][1000 genomes]
rs73826380	1.00[AMR][1000 genomes]
rs73826385	1.00[AMR][1000 genomes]
rs73826388	1.00[AMR][1000 genomes]
rs7661525	1.00[AMR][1000 genomes]
rs7685216	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77008000-77009000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:77008000-77009200	Enhancers	HepG2	liver
3	chr4:77008000-77009400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:77008000-77009400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:77008400-77009200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:77008400-77011200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:77008400-77011200	Weak transcription	HMEC	breast
8	chr4:77008400-77011400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:77008400-77014200	Weak transcription	Pancreas	Pancrea
10	chr4:77008600-77009000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:77008600-77009000	Enhancers	Brain Hippocampus Middle	brain
12	chr4:77008600-77009000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr4:77008600-77009000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:77008600-77009000	Enhancers	Hela-S3	cervix
15	chr4:77008600-77010000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr4:77008600-77010600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:77008600-77010600	Weak transcription	HUVEC	blood vessel
18	chr4:77008600-77011200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:77008600-77011200	Weak transcription	K562	blood
20	chr4:77008600-77011400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:77008600-77011600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:77008600-77011600	Weak transcription	Osteobl	bone
23	chr4:77008600-77016800	Weak transcription	Psoas Muscle	Psoas
24	chr4:77008800-77009000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:77008800-77009200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:77008800-77009200	Enhancers	Brain Cingulate Gyrus	brain
27	chr4:77008800-77011200	Weak transcription	NHEK	skin
28	chr4:77008800-77011600	Weak transcription	Fetal Heart	heart

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