Variant report

Variant	rs56015816
Chromosome Location	chr1:45794015-45794016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45791337..45793559-chr1:45793644..45795493,3	MCF-7	breast:
2	chr1:45793876..45794427-chr1:211779494..211780080,2	NB4	blood:
3	chr1:45766230..45767943-chr1:45792837..45794484,2	MCF-7	breast:
4	chr1:45793901..45794808-chr14:55595776..55596388,2	Hela-S3	cervix:
5	chr1:45284151..45285923-chr1:45793596..45795335,3	K562	blood:
6	chr1:45284151..45285923-chr1:45793815..45795335,2	K562	blood:

Variant related genes	Relation type
ENSG00000186603	Chromatin interaction
ENSG00000131981	Chromatin interaction
ENSG00000202444	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs28472700	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3219495	0.97[AFR][1000 genomes]
rs55786026	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56328440	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56359961	1.00[AMR][1000 genomes]
rs59831088	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692066	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890537	1.00[AMR][1000 genomes]
rs72890556	1.00[AMR][1000 genomes]
rs72890558	1.00[AMR][1000 genomes]
rs72890585	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890600	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072235	1.00[AMR][1000 genomes]
rs7519633	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7549045	1.00[AMR][1000 genomes]
rs7554112	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45787200-45796600	Weak transcription	HepG2	liver
2	chr1:45789800-45795000	Weak transcription	K562	blood
3	chr1:45792000-45794400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:45792000-45794400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr1:45792200-45794200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr1:45792200-45794400	Flanking Active TSS	Fetal Thymus	thymus
7	chr1:45792400-45800600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:45792600-45794800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:45792600-45794800	Flanking Active TSS	GM12878-XiMat	blood
10	chr1:45792800-45794200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:45792800-45804800	Weak transcription	Fetal Kidney	kidney
12	chr1:45792800-45805000	Weak transcription	HSMMtube	muscle
13	chr1:45793000-45794400	Weak transcription	Aorta	Aorta
14	chr1:45793000-45796000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:45793000-45796800	Weak transcription	HSMM	muscle
16	chr1:45793200-45794200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:45793200-45794200	Enhancers	Dnd41	blood
18	chr1:45793200-45794400	Weak transcription	Brain Substantia Nigra	brain
19	chr1:45793200-45794400	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr1:45793200-45794600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
21	chr1:45793200-45795000	Enhancers	A549	lung
22	chr1:45793200-45795200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:45793200-45795800	Weak transcription	Brain Angular Gyrus	brain
24	chr1:45793200-45796200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:45793200-45796600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:45793200-45796800	Weak transcription	Osteobl	bone
27	chr1:45793200-45797800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:45793200-45804800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:45793400-45794200	Enhancers	Fetal Brain Female	brain
30	chr1:45793400-45795000	Weak transcription	Liver	Liver
31	chr1:45793400-45795000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:45793400-45795200	Weak transcription	Adipose Nuclei	Adipose
33	chr1:45793400-45795200	Enhancers	Esophagus	oesophagus
34	chr1:45793400-45795600	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:45793400-45795600	Flanking Active TSS	Hela-S3	cervix
36	chr1:45793400-45796600	Weak transcription	Right Ventricle	heart
37	chr1:45793400-45796800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:45793400-45796800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:45793400-45796800	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:45793400-45803800	Weak transcription	Small Intestine	intestine
41	chr1:45793400-45804000	Weak transcription	HMEC	breast
42	chr1:45793400-45805000	Weak transcription	Right Atrium	heart
43	chr1:45793600-45794200	Genic enhancers	Fetal Muscle Leg	muscle
44	chr1:45793600-45794200	Genic enhancers	NHEK	skin
45	chr1:45793600-45794400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr1:45793600-45794400	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:45793600-45794600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:45793600-45794600	Weak transcription	Thymus	Thymus
49	chr1:45793600-45794800	Weak transcription	Brain Germinal Matrix	brain
50	chr1:45793600-45795000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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