Variant report

Variant	rs72685346
Chromosome Location	chr1:78382592-78382593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78380067..78382791-chr1:78394444..78396923,2	K562	blood:
2	chr1:78380436..78383155-chr1:78467317..78471539,4	K562	blood:

Variant related genes	Relation type
ENSG00000162616	Chromatin interaction
ENSG00000273338	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1325513	1.00[AFR][1000 genomes]
rs1408955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101082	0.82[AMR][1000 genomes]
rs2032056	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2296455	0.82[AMR][1000 genomes]
rs72685315	1.00[AFR][1000 genomes]
rs72685332	0.92[EUR][1000 genomes]
rs72685333	0.92[EUR][1000 genomes]
rs72685335	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72685338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685349	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72685370	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685371	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685373	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685374	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685376	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685378	0.92[EUR][1000 genomes]
rs72685382	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685386	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685398	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72687103	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72687112	1.00[AFR][1000 genomes]
rs72687124	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78355800-78383800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:78355800-78386200	Weak transcription	Fetal Intestine Small	intestine
3	chr1:78356200-78408600	Weak transcription	HMEC	breast
4	chr1:78356400-78396000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:78357400-78384400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:78359800-78383800	Weak transcription	Fetal Lung	lung
7	chr1:78360600-78384200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:78362400-78383200	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:78362400-78383800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:78362400-78384000	Weak transcription	Fetal Stomach	stomach
11	chr1:78366800-78382600	Weak transcription	NHLF	lung
12	chr1:78366800-78383600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:78366800-78383800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:78366800-78384000	Weak transcription	Aorta	Aorta
15	chr1:78367000-78407000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:78367600-78383800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:78367600-78383800	Weak transcription	Right Ventricle	heart
18	chr1:78371400-78384000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:78371600-78383800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:78371600-78413000	Weak transcription	Psoas Muscle	Psoas
21	chr1:78372800-78418600	Weak transcription	Pancreas	Pancrea
22	chr1:78373000-78383600	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:78375600-78383600	Weak transcription	Fetal Heart	heart
24	chr1:78376200-78383600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:78379800-78383800	Weak transcription	Fetal Intestine Large	intestine
26	chr1:78381000-78383200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:78381200-78384000	Weak transcription	Ovary	ovary
28	chr1:78381400-78382800	Strong transcription	NHDF-Ad	bronchial
29	chr1:78381400-78387000	Strong transcription	NH-A	brain
30	chr1:78381400-78388000	Strong transcription	HSMM	muscle
31	chr1:78381400-78390600	Strong transcription	Osteobl	bone
32	chr1:78381600-78383600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:78381600-78395200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:78381800-78383800	Weak transcription	HUVEC	blood vessel
35	chr1:78381800-78387600	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:78381800-78390600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:78381800-78390800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:78382000-78386600	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr1:78382200-78383800	Weak transcription	Adipose Nuclei	Adipose
40	chr1:78382200-78390800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:78382200-78407400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:78382200-78408000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:78382400-78382800	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:78382400-78387800	Strong transcription	Left Ventricle	heart
45	chr1:78382400-78388000	Strong transcription	HSMMtube	muscle
46	chr1:78382400-78394000	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:78382400-78405600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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