Variant report

Variant	rs4253074
Chromosome Location	chr10:50723317-50723318
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50722386..50724704-chr10:50727797..50729912,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10399986	0.85[AMR][1000 genomes]
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]
rs4253037	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]
rs4253052	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:6 , 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
6	nsv1051636	chr10:50675292-50732280	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50685000-50723400	Weak transcription	NHLF	lung
2	chr10:50686600-50727600	Weak transcription	Fetal Brain Male	brain
3	chr10:50686600-50731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr10:50690200-50724000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr10:50690200-50728200	Weak transcription	Colonic Mucosa	Colon
6	chr10:50690400-50723400	Weak transcription	Right Ventricle	heart
7	chr10:50690600-50723800	Weak transcription	Fetal Lung	lung
8	chr10:50690800-50723600	Weak transcription	Fetal Brain Female	brain
9	chr10:50690800-50726200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr10:50691000-50724400	Weak transcription	Lung	lung
11	chr10:50691000-50728200	Weak transcription	Gastric	stomach
12	chr10:50691600-50728400	Weak transcription	Fetal Kidney	kidney
13	chr10:50695600-50723400	Weak transcription	HSMMtube	muscle
14	chr10:50696400-50726200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:50696400-50731800	Weak transcription	Small Intestine	intestine
16	chr10:50702200-50725400	Weak transcription	Spleen	Spleen
17	chr10:50706000-50723400	Weak transcription	Aorta	Aorta
18	chr10:50706000-50723400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr10:50706400-50726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:50707000-50723600	Weak transcription	Brain Germinal Matrix	brain
21	chr10:50707000-50732200	Weak transcription	NHDF-Ad	bronchial
22	chr10:50707600-50735600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr10:50708200-50723400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr10:50708200-50723400	Weak transcription	K562	blood
25	chr10:50708800-50723400	Weak transcription	Adipose Nuclei	Adipose
26	chr10:50708800-50723400	Weak transcription	Pancreas	Pancrea
27	chr10:50711600-50723400	Weak transcription	Fetal Intestine Large	intestine
28	chr10:50711600-50727800	Weak transcription	Right Atrium	heart
29	chr10:50713800-50723400	Weak transcription	NH-A	brain
30	chr10:50714200-50723600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:50715000-50732200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr10:50715800-50727800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:50716200-50731000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr10:50716800-50723400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr10:50716800-50726600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:50717000-50723400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr10:50717000-50723400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr10:50717000-50723400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr10:50717000-50723400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr10:50717000-50723400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr10:50717000-50724000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:50717000-50727400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr10:50717200-50723400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr10:50717200-50723400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr10:50717200-50723400	Weak transcription	Fetal Muscle Leg	muscle
46	chr10:50717200-50723400	Weak transcription	GM12878-XiMat	blood
47	chr10:50717200-50723600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr10:50717200-50723800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr10:50717200-50724000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr10:50717200-50729400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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