Variant report

Variant	rs10179025
Chromosome Location	chr2:58439339-58439340
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58438532..58441136-chr2:58448840..58451034,2	K562	blood:
2	chr2:58437256..58439739-chr2:58439899..58441401,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10167028	0.81[AFR][1000 genomes]
rs10185542	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10185758	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10198382	0.84[AFR][1000 genomes]
rs10439485	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13001078	0.84[AFR][1000 genomes]
rs13384786	0.84[AFR][1000 genomes]
rs13386998	0.84[AFR][1000 genomes]
rs13409706	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13417865	0.86[AFR][1000 genomes]
rs13418777	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13421853	0.89[AFR][1000 genomes]
rs13424099	0.86[AFR][1000 genomes]
rs13424848	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13428078	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17182870	0.87[AFR][1000 genomes]
rs17183100	0.84[AFR][1000 genomes]
rs28391566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28668929	0.94[AFR][1000 genomes]
rs3771214	0.87[AFR][1000 genomes]
rs57033851	0.89[AFR][1000 genomes]
rs62140048	0.81[AFR][1000 genomes]
rs62140049	0.83[AFR][1000 genomes]
rs62140050	0.89[AFR][1000 genomes]
rs62140051	0.89[AFR][1000 genomes]
rs72950813	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007527	chr2:58386271-58477536	Strong transcription Weak transcription Enhancers Flanking Active TSS 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	11 gene(s)	inside rSNPs	diseases
4	nsv535735	chr2:58386271-58477536	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv458052	chr2:58388696-58450569	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv582098	chr2:58388696-58450569	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv817995	chr2:58390538-58450569	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:58391000-58467000	Weak transcription	HMEC	breast
3	chr2:58397800-58442600	Weak transcription	Brain Anterior Caudate	brain
4	chr2:58403000-58439400	Weak transcription	HSMM	muscle
5	chr2:58414000-58461400	Weak transcription	NHEK	skin
6	chr2:58416200-58454200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:58416600-58467200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:58421600-58452400	Weak transcription	NH-A	brain
9	chr2:58422000-58442800	Weak transcription	Brain Angular Gyrus	brain
10	chr2:58422000-58454200	Weak transcription	Left Ventricle	heart
11	chr2:58425000-58442200	Weak transcription	Fetal Heart	heart
12	chr2:58425600-58446600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:58425800-58446600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:58429600-58439600	Weak transcription	Adipose Nuclei	Adipose
15	chr2:58430000-58440400	Weak transcription	Hela-S3	cervix
16	chr2:58431400-58440200	Weak transcription	NHDF-Ad	bronchial
17	chr2:58432000-58445600	Weak transcription	Osteobl	bone
18	chr2:58432000-58466400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:58432200-58442400	Weak transcription	HUVEC	blood vessel
20	chr2:58433600-58454200	Weak transcription	Gastric	stomach
21	chr2:58437000-58440000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:58437000-58460200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:58437200-58440800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:58437200-58440800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr2:58437200-58440800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:58437200-58441200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:58437200-58442400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:58437200-58442800	ZNF genes & repeats	GM12878-XiMat	blood
29	chr2:58437200-58459000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:58437400-58439600	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr2:58437400-58439600	ZNF genes & repeats	Fetal Muscle Leg	muscle
32	chr2:58437400-58440000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
33	chr2:58437400-58440600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr2:58437400-58440600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chr2:58437400-58440800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr2:58437400-58440800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr2:58437400-58441000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:58437400-58441000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr2:58437400-58441000	Strong transcription	Fetal Lung	lung
40	chr2:58437400-58441600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:58437600-58439800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:58437600-58443200	Weak transcription	Right Atrium	heart
43	chr2:58437800-58439800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:58437800-58439800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr2:58437800-58440000	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr2:58437800-58456800	Weak transcription	Fetal Kidney	kidney
47	chr2:58438000-58439800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
48	chr2:58438000-58440000	ZNF genes & repeats	Dnd41	blood
49	chr2:58438000-58440600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
50	chr2:58438200-58440600	Strong transcription	Rectal Mucosa Donor 31	rectum

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