Variant report

Variant	rs2244575
Chromosome Location	chr10:50227515-50227516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50225099..50226712-chr10:50226883..50229735,2	K562	blood:
2	chr10:50226547..50228210-chr10:50244930..50247229,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1055583	0.81[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[ASN][1000 genomes]
rs1877804	0.93[ASN][1000 genomes]
rs1877805	0.81[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.84[YRI][hapmap];0.93[ASN][1000 genomes]
rs1913518	0.97[ASN][1000 genomes]
rs1913519	0.97[ASN][1000 genomes]
rs1913521	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.93[ASN][1000 genomes]
rs1996185	0.97[ASN][1000 genomes]
rs2137920	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[ASN][1000 genomes]
rs2175918	0.89[CHB][hapmap];0.97[CHD][hapmap];0.82[YRI][hapmap]
rs2243994	0.81[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.93[ASN][1000 genomes]
rs2244967	0.97[ASN][1000 genomes]
rs2245145	0.92[ASN][1000 genomes]
rs2245147	0.92[ASN][1000 genomes]
rs2245149	0.92[ASN][1000 genomes]
rs2245162	0.92[ASN][1000 genomes]
rs2245165	0.89[ASN][1000 genomes]
rs2253873	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.93[ASN][1000 genomes]
rs2254384	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2254393	0.81[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.93[ASN][1000 genomes]
rs2254410	0.81[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.93[ASN][1000 genomes]
rs2254412	0.93[ASN][1000 genomes]
rs2254617	0.93[ASN][1000 genomes]
rs2254628	0.93[ASN][1000 genomes]
rs2254740	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2254754	0.93[ASN][1000 genomes]
rs2254863	0.94[ASN][1000 genomes]
rs2255253	0.93[ASN][1000 genomes]
rs2255360	0.95[ASN][1000 genomes]
rs2255739	0.94[ASN][1000 genomes]
rs2255943	0.93[ASN][1000 genomes]
rs2264555	0.93[ASN][1000 genomes]
rs2264844	0.93[ASN][1000 genomes]
rs2264848	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.92[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2264849	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.92[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2458672	0.93[ASN][1000 genomes]
rs2466751	0.93[ASN][1000 genomes]
rs2466752	0.93[ASN][1000 genomes]
rs2466754	0.94[ASN][1000 genomes]
rs2466755	0.94[ASN][1000 genomes]
rs2725199	0.94[ASN][1000 genomes]
rs2955063	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs883017	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50217400-50231200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:50218600-50238200	Weak transcription	Esophagus	oesophagus
3	chr10:50218800-50231400	Weak transcription	Adipose Nuclei	Adipose
4	chr10:50220400-50233600	Weak transcription	Gastric	stomach
5	chr10:50220800-50231200	Weak transcription	Brain Hippocampus Middle	brain
6	chr10:50221000-50233400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:50221800-50231400	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:50221800-50232400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr10:50222000-50231400	Weak transcription	Right Ventricle	heart
10	chr10:50222000-50233800	Weak transcription	Lung	lung
11	chr10:50222800-50279000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr10:50223000-50231600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:50223000-50231600	Weak transcription	Left Ventricle	heart
14	chr10:50223000-50254200	Weak transcription	NHDF-Ad	bronchial
15	chr10:50223600-50227800	Strong transcription	Fetal Muscle Leg	muscle
16	chr10:50223600-50228000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr10:50223800-50227600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr10:50223800-50227800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr10:50224200-50228000	Strong transcription	Fetal Lung	lung
20	chr10:50224200-50231600	Weak transcription	Fetal Kidney	kidney
21	chr10:50224400-50258200	Weak transcription	Brain Anterior Caudate	brain
22	chr10:50224600-50244800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr10:50225200-50227800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:50225800-50231200	Weak transcription	Brain Substantia Nigra	brain
25	chr10:50226400-50227800	Genic enhancers	Fetal Stomach	stomach
26	chr10:50226600-50227800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:50226600-50227800	Strong transcription	Aorta	Aorta
28	chr10:50226600-50227800	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr10:50226600-50227800	Strong transcription	HSMMtube	muscle
30	chr10:50227000-50227800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:50227000-50227800	Strong transcription	Ovary	ovary
32	chr10:50227200-50231400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr10:50227200-50231400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr10:50227200-50231600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:50227200-50231600	Weak transcription	Placenta	Placenta
36	chr10:50227400-50227800	Strong transcription	Fetal Intestine Small	intestine
37	chr10:50227400-50231400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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