Variant report

Variant	rs72785060
Chromosome Location	chr10:50321467-50321468
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	chr10:50318764..50321622-chr10:50328764..50331472,2	K562	blood:

Variant related genes	Relation type
ENSG00000234736	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10508911	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10857434	0.89[EUR][1000 genomes]
rs11100985	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11100994	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11814668	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11815070	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17011692	0.85[EUR][1000 genomes]
rs17011715	0.87[EUR][1000 genomes]
rs17011726	0.87[EUR][1000 genomes]
rs17011755	0.92[EUR][1000 genomes]
rs17011799	0.92[EUR][1000 genomes]
rs17773666	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17774010	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17774058	1.00[AFR][1000 genomes]
rs28505677	0.82[EUR][1000 genomes]
rs36116147	0.87[EUR][1000 genomes]
rs4264085	0.84[EUR][1000 genomes]
rs4272720	0.85[EUR][1000 genomes]
rs4453139	0.87[EUR][1000 genomes]
rs45563932	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55648711	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55872223	0.92[EUR][1000 genomes]
rs55936311	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56027486	0.87[EUR][1000 genomes]
rs56081724	0.81[AMR][1000 genomes]
rs56157539	0.87[EUR][1000 genomes]
rs56197478	0.92[EUR][1000 genomes]
rs59889308	0.89[EUR][1000 genomes]
rs61166027	0.86[EUR][1000 genomes]
rs61848370	0.87[EUR][1000 genomes]
rs61848371	0.87[EUR][1000 genomes]
rs61848377	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61848380	0.89[EUR][1000 genomes]
rs61850681	0.82[EUR][1000 genomes]
rs61850682	0.85[EUR][1000 genomes]
rs61850684	0.85[EUR][1000 genomes]
rs61850689	0.87[EUR][1000 genomes]
rs61850690	0.87[EUR][1000 genomes]
rs61850693	0.87[EUR][1000 genomes]
rs7084861	0.82[EUR][1000 genomes]
rs72785044	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72785050	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72785051	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72785072	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72785076	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72785084	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72785087	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72786903	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72789086	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72789089	0.81[AMR][1000 genomes]
rs7905715	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7919424	0.81[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	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
3	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
4	esv1824894	chr10:50309905-50340304	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	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
6	nsv550817	chr10:50319387-50328494	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50312600-50322800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:50315000-50322600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:50315400-50323000	Weak transcription	Pancreas	Pancrea
4	chr10:50315600-50323000	Weak transcription	Spleen	Spleen
5	chr10:50315800-50322200	Enhancers	Left Ventricle	heart
6	chr10:50315800-50322600	Weak transcription	Liver	Liver
7	chr10:50316000-50321600	Enhancers	Ovary	ovary
8	chr10:50317200-50321600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:50317200-50321600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr10:50317400-50322000	Weak transcription	K562	blood
11	chr10:50318000-50321800	Enhancers	HSMMtube	muscle
12	chr10:50318000-50322200	Weak transcription	Brain Anterior Caudate	brain
13	chr10:50318200-50322800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:50318600-50321800	Weak transcription	Fetal Heart	heart
15	chr10:50318600-50322200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr10:50319000-50322000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr10:50319000-50322800	Weak transcription	Esophagus	oesophagus
18	chr10:50319200-50321800	Weak transcription	Brain Substantia Nigra	brain
19	chr10:50319400-50321600	Weak transcription	Brain Angular Gyrus	brain
20	chr10:50319600-50321600	Enhancers	Stomach Smooth Muscle	stomach
21	chr10:50319600-50322000	Weak transcription	Brain Hippocampus Middle	brain
22	chr10:50319600-50322600	Weak transcription	Psoas Muscle	Psoas
23	chr10:50319800-50321600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:50319800-50323000	Weak transcription	Lung	lung
25	chr10:50320200-50321600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:50320200-50322000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr10:50320400-50321800	Weak transcription	Aorta	Aorta
28	chr10:50320400-50322200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr10:50320400-50322400	Weak transcription	Colonic Mucosa	Colon
30	chr10:50320600-50321600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr10:50320600-50321800	Weak transcription	NHLF	lung
32	chr10:50320800-50322000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:50320800-50322000	Enhancers	Colon Smooth Muscle	Colon
34	chr10:50320800-50322200	Enhancers	Fetal Thymus	thymus
35	chr10:50320800-50322600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr10:50321000-50321600	Enhancers	Small Intestine	intestine
37	chr10:50321000-50322000	Enhancers	Fetal Lung	lung
38	chr10:50321000-50322000	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
39	chr10:50321000-50322000	Enhancers	NHDF-Ad	bronchial
40	chr10:50321000-50322200	Enhancers	Right Atrium	heart
41	chr10:50321000-50323200	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr10:50321200-50321600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr10:50321200-50321800	Active TSS	Fetal Muscle Trunk	muscle
44	chr10:50321200-50322200	Weak transcription	Right Ventricle	heart
45	chr10:50321400-50321600	Active TSS	Osteobl	bone
46	chr10:50321400-50321800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
47	chr10:50321400-50322000	Enhancers	HSMM	muscle
48	chr10:50321400-50322200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:50321400-50322200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr10:50321400-50322400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach

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