Variant report

Variant	rs72717713
Chromosome Location	chr14:55805829-55805830
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	chr14:55736427..55740242-chr14:55801434..55807681,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258413	Chromatin interaction
ENSG00000178974	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs35342573	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35954941	1.00[AMR][1000 genomes]
rs67626275	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715705	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715707	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715716	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715743	1.00[AMR][1000 genomes]
rs72715749	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715750	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715752	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715756	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715758	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715763	1.00[AMR][1000 genomes]
rs72715765	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715773	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715777	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715782	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715784	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715789	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715791	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715792	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72715794	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72716698	1.00[AMR][1000 genomes]
rs72717703	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717705	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717706	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717707	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717708	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717715	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717720	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717724	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717725	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717733	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717736	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717741	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717743	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717746	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717748	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717749	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717754	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717756	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717758	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72717766	0.83[AMR][1000 genomes]
rs72718806	1.00[AMR][1000 genomes]
rs72718813	1.00[AMR][1000 genomes]
rs72718815	1.00[AMR][1000 genomes]
rs72718818	1.00[AMR][1000 genomes]
rs72718819	1.00[AMR][1000 genomes]
rs72718821	1.00[AMR][1000 genomes]
rs72718822	1.00[AMR][1000 genomes]
rs72718824	1.00[AMR][1000 genomes]
rs72718831	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72718835	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72718837	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72718840	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72718843	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72718844	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72718845	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72718846	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72718847	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72718850	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72718856	1.00[AMR][1000 genomes];0.86[EUR][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	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv84773	chr14:55804786-55807119	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55779200-55817600	Weak transcription	Hela-S3	cervix
2	chr14:55780200-55807800	Weak transcription	Thymus	Thymus
3	chr14:55780600-55806200	Weak transcription	HMEC	breast
4	chr14:55780800-55817200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:55782000-55817200	Weak transcription	HSMM	muscle
6	chr14:55787200-55806600	Weak transcription	Fetal Muscle Leg	muscle
7	chr14:55790400-55806800	Weak transcription	Aorta	Aorta
8	chr14:55791800-55817200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:55793000-55808600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:55794000-55811800	Weak transcription	Brain Anterior Caudate	brain
11	chr14:55795000-55806600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:55797800-55807800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:55798200-55817200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:55800000-55806600	Weak transcription	Brain Angular Gyrus	brain
15	chr14:55800000-55806600	Weak transcription	Left Ventricle	heart
16	chr14:55800000-55806800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr14:55800000-55817200	Weak transcription	Dnd41	blood
18	chr14:55800600-55816200	Weak transcription	Primary B cells from cord blood	blood
19	chr14:55800600-55823600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:55801000-55806000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:55801000-55806400	Weak transcription	Fetal Heart	heart
22	chr14:55801000-55806800	Weak transcription	HSMMtube	muscle
23	chr14:55801000-55807800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:55801000-55808400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr14:55801000-55808600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:55801000-55817200	Weak transcription	HepG2	liver
27	chr14:55801200-55806600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr14:55801200-55806600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:55801200-55817200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:55801200-55817200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr14:55801200-55817200	Weak transcription	Liver	Liver
32	chr14:55801200-55817200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr14:55801200-55842800	Weak transcription	Fetal Brain Male	brain
34	chr14:55801400-55806200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:55801400-55806800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:55801400-55817400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:55801400-55817400	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:55801600-55806600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:55801600-55806600	Weak transcription	Colon Smooth Muscle	Colon
40	chr14:55801600-55806600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:55801600-55807000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr14:55801600-55807200	Enhancers	Primary T cells from cord blood	blood
43	chr14:55801600-55817200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:55801800-55806400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:55801800-55806400	Weak transcription	Right Ventricle	heart
46	chr14:55801800-55806600	Weak transcription	Pancreas	Pancrea
47	chr14:55801800-55806800	Weak transcription	Esophagus	oesophagus
48	chr14:55801800-55806800	Weak transcription	Fetal Stomach	stomach
49	chr14:55801800-55806800	Weak transcription	Lung	lung
50	chr14:55801800-55807000	Weak transcription	Right Atrium	heart

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