Variant report

Variant	rs4317903
Chromosome Location	chr10:50299061-50299062
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50298074..50299624-chr10:50316267..50318551,2	K562	blood:
2	chr10:50288196..50290467-chr10:50297375..50300354,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12240534	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12246766	0.81[AMR][1000 genomes]
rs12261297	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12269023	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13088	0.80[AMR][1000 genomes]
rs17011757	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2246463	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2250146	0.83[ASN][1000 genomes]
rs2250257	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2250349	0.87[ASN][1000 genomes]
rs2804934	0.81[EUR][1000 genomes]
rs2943253	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2943254	0.83[ASN][1000 genomes]
rs4128908	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4129035	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240498	0.97[ASN][1000 genomes]
rs4317904	1.00[ASN][1000 genomes]
rs4403731	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4421674	1.00[ASN][1000 genomes]
rs4445564	0.82[AMR][1000 genomes]
rs4508127	0.81[ASN][1000 genomes]
rs4509682	0.81[AMR][1000 genomes]
rs6537493	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6537494	0.97[ASN][1000 genomes]
rs7074818	0.97[ASN][1000 genomes]
rs7093398	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7097933	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7897289	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7906722	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7916825	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[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	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
2	esv2761593	chr10:50276812-50336129	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50290800-50315400	Weak transcription	Fetal Intestine Small	intestine
2	chr10:50291800-50299600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:50292200-50302600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:50292200-50311800	Weak transcription	Aorta	Aorta
5	chr10:50293400-50312400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:50294800-50302600	Weak transcription	Brain Angular Gyrus	brain
7	chr10:50295800-50311600	Weak transcription	K562	blood
8	chr10:50296400-50300200	Enhancers	Right Atrium	heart
9	chr10:50296400-50302200	Enhancers	Right Ventricle	heart
10	chr10:50296400-50304000	Genic enhancers	Fetal Muscle Leg	muscle
11	chr10:50296600-50299200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr10:50296600-50299400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:50296600-50299400	Enhancers	Left Ventricle	heart
14	chr10:50296800-50301000	Enhancers	Ovary	ovary
15	chr10:50297000-50300800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr10:50297200-50299400	Enhancers	Lung	lung
17	chr10:50297200-50299600	Genic enhancers	Fetal Stomach	stomach
18	chr10:50297400-50299600	Enhancers	Adipose Nuclei	Adipose
19	chr10:50297600-50299400	Enhancers	Placenta	Placenta
20	chr10:50297600-50302800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:50297600-50303800	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr10:50298000-50299200	Enhancers	Psoas Muscle	Psoas
23	chr10:50298000-50299400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr10:50298200-50299200	Enhancers	Spleen	Spleen
25	chr10:50298200-50299400	Enhancers	Colonic Mucosa	Colon
26	chr10:50298400-50299200	Enhancers	Esophagus	oesophagus
27	chr10:50298400-50299200	Enhancers	Pancreas	Pancrea
28	chr10:50298400-50302400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr10:50298600-50302200	Weak transcription	Brain Substantia Nigra	brain
30	chr10:50298600-50302400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:50298600-50306000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:50298600-50306600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:50298600-50310400	Weak transcription	Fetal Intestine Large	intestine
34	chr10:50298600-50314400	Weak transcription	NHDF-Ad	bronchial
35	chr10:50298800-50299400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:50298800-50299600	Enhancers	Fetal Thymus	thymus
37	chr10:50298800-50300000	Enhancers	Stomach Smooth Muscle	stomach
38	chr10:50298800-50302600	Weak transcription	Brain Hippocampus Middle	brain
39	chr10:50298800-50304200	Weak transcription	Fetal Heart	heart
40	chr10:50299000-50299200	Enhancers	Fetal Kidney	kidney
41	chr10:50299000-50299400	Weak transcription	Colon Smooth Muscle	Colon
42	chr10:50299000-50299400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr10:50299000-50299600	Enhancers	HSMMtube	muscle
44	chr10:50299000-50302200	Weak transcription	NHLF	lung
45	chr10:50299000-50312600	Weak transcription	Fetal Lung	lung

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