Variant report

Variant	rs72806056
Chromosome Location	chr2:63837680-63837681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:63835463..63837099-chr2:63837397..63839181,2	K562	blood:
2	chr2:63835075..63837932-chr2:63839225..63843249,3	K562	blood:
3	chr2:63832321..63835607-chr2:63836287..63839158,3	K562	blood:

Variant related genes	Relation type
ENSG00000014641	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1109027	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12463603	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12470478	0.83[EUR][1000 genomes]
rs12472865	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17618045	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17619012	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2054120	0.86[EUR][1000 genomes]
rs4567921	0.81[EUR][1000 genomes]
rs72806010	0.83[EUR][1000 genomes]
rs72806027	0.82[EUR][1000 genomes]
rs72806055	0.81[EUR][1000 genomes]
rs72806058	0.83[EUR][1000 genomes]
rs72821631	0.80[EUR][1000 genomes]
rs72821632	0.80[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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63821600-63843000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:63829200-63839800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:63833200-63840200	Weak transcription	NHEK	skin
4	chr2:63833600-63840000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:63833600-63840200	Weak transcription	Psoas Muscle	Psoas
6	chr2:63833600-63841800	Weak transcription	K562	blood
7	chr2:63834200-63842400	Weak transcription	A549	lung
8	chr2:63834400-63840400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:63834400-63840600	Weak transcription	HMEC	breast
10	chr2:63834400-63841200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:63834400-63841200	Weak transcription	Osteobl	bone
12	chr2:63834400-63841800	Weak transcription	HSMMtube	muscle
13	chr2:63834600-63838000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:63834600-63838000	Weak transcription	GM12878-XiMat	blood
15	chr2:63834600-63839000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:63834600-63839200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:63834600-63839200	Weak transcription	HepG2	liver
18	chr2:63834600-63840000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:63834600-63840200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:63834600-63840600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:63834600-63840600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:63834600-63840600	Weak transcription	NH-A	brain
23	chr2:63834600-63841200	Weak transcription	HSMM	muscle
24	chr2:63834600-63841400	Weak transcription	NHDF-Ad	bronchial
25	chr2:63834600-63841600	Weak transcription	Hela-S3	cervix
26	chr2:63834800-63837800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:63834800-63838600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:63834800-63839200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:63834800-63840000	Weak transcription	Placenta	Placenta
30	chr2:63834800-63840200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:63834800-63840200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:63834800-63840400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:63834800-63840600	Weak transcription	Adipose Nuclei	Adipose
34	chr2:63834800-63840600	Weak transcription	Ovary	ovary
35	chr2:63834800-63841400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:63834800-63841600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:63834800-63842200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:63834800-63842400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:63834800-63842600	Weak transcription	Left Ventricle	heart
40	chr2:63835000-63838000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:63835000-63838200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:63835000-63839200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:63835000-63839200	Weak transcription	Aorta	Aorta
44	chr2:63835000-63840200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:63835000-63840400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:63835000-63840600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:63835000-63840600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:63835000-63842200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:63835200-63839000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:63835200-63839800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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