Variant report

Variant	rs4253037
Chromosome Location	chr10:50737142-50737143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50727908..50731629-chr10:50735183..50738136,3	MCF-7	breast:
2	chr10:50729482..50733326-chr10:50734602..50739448,5	K562	blood:
3	chr10:50731383..50733326-chr10:50736507..50739448,3	K562	blood:

Variant related genes	Relation type
ENSG00000243251	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10399986	0.85[AMR][1000 genomes]
rs10400043	1.00[JPT][hapmap]
rs10400121	1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs17010116	1.00[AMR][1000 genomes]
rs17010153	1.00[MEX][hapmap]
rs4253017	1.00[AMR][1000 genomes]
rs4253025	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253074	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253075	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253096	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253111	0.86[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs4253143	1.00[AMR][1000 genomes]
rs4253146	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253197	0.86[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs57612136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58927526	1.00[AMR][1000 genomes]
rs61352664	1.00[AMR][1000 genomes]
rs61476133	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296102	0.80[AFR][1000 genomes]
rs73297711	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297712	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297721	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297732	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297734	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297740	1.00[AMR][1000 genomes]
rs73297743	1.00[AMR][1000 genomes]
rs73297744	1.00[AMR][1000 genomes]
rs73297746	1.00[AMR][1000 genomes]
rs73305578	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305599	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73311019	1.00[AFR][1000 genomes];1.00[AMR][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50717200-50746000	Weak transcription	Fetal Heart	heart
2	chr10:50720400-50746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:50723000-50741000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr10:50723200-50741000	Strong transcription	Primary T cells from cord blood	blood
5	chr10:50723200-50741000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:50723200-50741000	Strong transcription	HMEC	breast
7	chr10:50723200-50741800	Strong transcription	Osteobl	bone
8	chr10:50723400-50739600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr10:50723400-50741000	Strong transcription	Fetal Intestine Large	intestine
10	chr10:50723400-50741000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr10:50723400-50741600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr10:50723400-50741600	Strong transcription	NHEK	skin
13	chr10:50723600-50741000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr10:50725000-50746200	Weak transcription	Psoas Muscle	Psoas
15	chr10:50726800-50739600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:50727800-50741000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr10:50727800-50741000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:50727800-50741000	Strong transcription	Adipose Nuclei	Adipose
19	chr10:50727800-50741200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:50728200-50741000	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr10:50728200-50741400	Strong transcription	HSMM	muscle
22	chr10:50728400-50738600	Strong transcription	Fetal Thymus	thymus
23	chr10:50728400-50741000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:50728400-50741000	Strong transcription	Placenta	Placenta
25	chr10:50728600-50740600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr10:50728600-50741400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr10:50728800-50741000	Strong transcription	Dnd41	blood
28	chr10:50728800-50742000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:50729000-50745800	Weak transcription	Stomach Mucosa	stomach
30	chr10:50729200-50738600	Strong transcription	Fetal Muscle Leg	muscle
31	chr10:50729200-50741400	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr10:50729200-50742400	Strong transcription	Hela-S3	cervix
33	chr10:50729600-50740000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr10:50730000-50737400	Weak transcription	Right Atrium	heart
35	chr10:50730000-50746400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr10:50730600-50741000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr10:50730600-50741200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:50730800-50741000	Strong transcription	Ovary	ovary
39	chr10:50730800-50741400	Strong transcription	Primary B cells from peripheral blood	blood
40	chr10:50731000-50738600	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr10:50731000-50740400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr10:50731000-50741400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr10:50731200-50738200	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr10:50731200-50738400	Strong transcription	HSMMtube	muscle
45	chr10:50731200-50738600	Strong transcription	Stomach Smooth Muscle	stomach
46	chr10:50731200-50740800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr10:50731200-50741000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr10:50731400-50738600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr10:50731400-50740600	Strong transcription	NH-A	brain
50	chr10:50731400-50741000	Strong transcription	Liver	Liver

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