Variant report

Variant	rs72685386
Chromosome Location	chr1:78473368-78473369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:78473330-78473972	HUVEC	blood vessel:	n/a	n/a
2	GTF3C2	chr1:78472933-78474101	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:78468129..78475881-chr1:78555411..78565499,18	K562	blood:
2	chr1:78145583..78147793-chr1:78472821..78475048,2	K562	blood:
3	chr1:76190098..76192405-chr1:78472869..78474915,2	K562	blood:
4	chr1:78473290..78475127-chr1:78557271..78559371,2	K562	blood:
5	chr1:78472904..78475417-chr1:78568787..78572240,3	K562	blood:
6	chr1:78472783..78474858-chr1:78555582..78557141,2	K562	blood:
7	chr1:78145583..78147274-chr1:78472120..78474321,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273338	TF binding region
ENSG00000213560	Chromatin interaction
ENSG00000202263	Chromatin interaction
ENSG00000117054	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1325513	1.00[AFR][1000 genomes]
rs1408955	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2032056	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72685315	1.00[AFR][1000 genomes]
rs72685332	0.84[EUR][1000 genomes]
rs72685333	0.84[EUR][1000 genomes]
rs72685335	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72685338	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685344	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685346	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685349	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72685355	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72685362	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685366	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72685370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685378	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685391	0.82[AMR][1000 genomes]
rs72685398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72687103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72687112	1.00[AFR][1000 genomes]
rs72687124	1.00[AFR][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	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	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
5	esv1801396	chr1:78468094-78492221	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78448800-78488200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:78452800-78478800	Weak transcription	Spleen	Spleen
3	chr1:78454200-78485600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:78468200-78473600	Active TSS	A549	lung
5	chr1:78468400-78475800	Active TSS	Right Atrium	heart
6	chr1:78468600-78473400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr1:78468600-78475000	Active TSS	K562	blood
8	chr1:78469000-78473400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr1:78469200-78473400	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr1:78469200-78473600	Active TSS	Brain Substantia Nigra	brain
11	chr1:78469200-78475400	Active TSS	NHLF	lung
12	chr1:78469400-78475400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:78469600-78473400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:78469600-78473400	Active TSS	GM12878-XiMat	blood
15	chr1:78469600-78473400	Active TSS	Osteobl	bone
16	chr1:78469600-78473600	Active TSS	Brain Hippocampus Middle	brain
17	chr1:78469600-78474400	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr1:78469600-78476400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:78469600-78476800	Active TSS	HSMMtube	muscle
20	chr1:78469600-78477200	Active TSS	Aorta	Aorta
21	chr1:78469800-78473400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:78469800-78473400	Active TSS	Hela-S3	cervix
23	chr1:78469800-78473400	Active TSS	NHDF-Ad	bronchial
24	chr1:78469800-78473600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:78469800-78473600	Active TSS	Brain Angular Gyrus	brain
26	chr1:78469800-78473800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:78469800-78474000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:78469800-78474000	Active TSS	Fetal Muscle Trunk	muscle
29	chr1:78469800-78474000	Active TSS	Left Ventricle	heart
30	chr1:78469800-78474400	Active TSS	Ovary	ovary
31	chr1:78469800-78474400	Active TSS	Psoas Muscle	Psoas
32	chr1:78469800-78474800	Active TSS	HUVEC	blood vessel
33	chr1:78469800-78475000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:78469800-78476800	Active TSS	Stomach Smooth Muscle	stomach
35	chr1:78469800-78477400	Active TSS	Right Ventricle	heart
36	chr1:78470000-78473400	Active TSS	Colon Smooth Muscle	Colon
37	chr1:78470000-78475000	Active TSS	NH-A	brain
38	chr1:78470800-78487800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr1:78471000-78473800	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr1:78471000-78487400	Weak transcription	Lung	lung
41	chr1:78471200-78486400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:78471600-78473800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:78471600-78474200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr1:78471600-78483000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr1:78471600-78483400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:78471600-78483800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:78471600-78487000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr1:78471800-78474000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
49	chr1:78471800-78477200	Transcr. at gene 5' and 3'	HSMM	muscle
50	chr1:78471800-78482000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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