Variant report

Variant	rs72806055
Chromosome Location	chr2:63835971-63835972
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:63825929..63827816-chr2:63834281..63836054,2	MCF-7	breast:
2	chr2:63835075..63837932-chr2:63839225..63843249,3	K562	blood:
3	chr2:63835463..63837099-chr2:63837397..63839181,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10496102	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12470478	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12476015	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13405855	0.83[ASN][1000 genomes]
rs17554675	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17617855	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17618390	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17619354	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2278718	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4567921	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4671062	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4671522	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4671527	0.82[ASN][1000 genomes]
rs6546023	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6722981	0.83[ASN][1000 genomes]
rs6723088	0.83[ASN][1000 genomes]
rs72806004	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72806010	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72806027	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72806056	0.81[EUR][1000 genomes]
rs72806058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806082	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72806089	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72806095	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72821628	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72821630	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72821631	0.83[EUR][1000 genomes]
rs72821632	0.87[AFR][1000 genomes];0.83[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	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1792289	chr2:63812148-63900292	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats 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	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63821600-63843000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:63822000-63836000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:63826400-63836000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:63829200-63839800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:63830200-63836000	Strong transcription	Fetal Intestine Small	intestine
6	chr2:63833200-63840200	Weak transcription	NHEK	skin
7	chr2:63833400-63836000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:63833400-63837200	Weak transcription	Esophagus	oesophagus
9	chr2:63833600-63836000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:63833600-63836000	Weak transcription	Lung	lung
11	chr2:63833600-63836200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:63833600-63840000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:63833600-63840200	Weak transcription	Psoas Muscle	Psoas
14	chr2:63833600-63841800	Weak transcription	K562	blood
15	chr2:63833800-63836000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:63833800-63836000	Weak transcription	NHLF	lung
17	chr2:63834200-63842400	Weak transcription	A549	lung
18	chr2:63834400-63836000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:63834400-63840400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:63834400-63840600	Weak transcription	HMEC	breast
21	chr2:63834400-63841200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:63834400-63841200	Weak transcription	Osteobl	bone
23	chr2:63834400-63841800	Weak transcription	HSMMtube	muscle
24	chr2:63834600-63836200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:63834600-63836200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:63834600-63836200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:63834600-63836200	Weak transcription	Brain Germinal Matrix	brain
28	chr2:63834600-63836200	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:63834600-63836200	Weak transcription	Brain Substantia Nigra	brain
30	chr2:63834600-63836200	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:63834600-63836200	Weak transcription	Fetal Brain Female	brain
32	chr2:63834600-63836200	Weak transcription	Fetal Lung	lung
33	chr2:63834600-63836400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr2:63834600-63836400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr2:63834600-63836600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:63834600-63836800	Weak transcription	Fetal Intestine Large	intestine
37	chr2:63834600-63837000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:63834600-63838000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:63834600-63838000	Weak transcription	GM12878-XiMat	blood
40	chr2:63834600-63839000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:63834600-63839200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:63834600-63839200	Weak transcription	HepG2	liver
43	chr2:63834600-63840000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:63834600-63840200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:63834600-63840600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:63834600-63840600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:63834600-63840600	Weak transcription	NH-A	brain
48	chr2:63834600-63841200	Weak transcription	HSMM	muscle
49	chr2:63834600-63841400	Weak transcription	NHDF-Ad	bronchial
50	chr2:63834600-63841600	Weak transcription	Hela-S3	cervix

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