Variant report

Variant	rs664818
Chromosome Location	chr1:78527497-78527498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78468253..78471676-chr1:78525525..78529998,6	K562	blood:
2	chr1:78520206..78525011-chr1:78526646..78528908,4	K562	blood:
3	chr1:78484921..78487843-chr1:78526305..78528033,2	K562	blood:
4	chr1:78469696..78471554-chr1:78524530..78528737,5	K562	blood:

Variant related genes	Relation type
ENSG00000273338	Chromatin interaction
ENSG00000162616	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1001070	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1001103	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1001104	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10437022	0.83[AMR][1000 genomes]
rs10873960	0.83[AMR][1000 genomes]
rs1335481	0.86[AMR][1000 genomes]
rs1855704	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1971368	0.86[AMR][1000 genomes]
rs4370803	0.83[AMR][1000 genomes]
rs5001389	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568497	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs628451	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638335	1.00[ASN][1000 genomes]
rs6424650	0.83[AMR][1000 genomes]
rs6424660	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6424664	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6424666	0.82[AMR][1000 genomes]
rs6424668	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs661038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662330	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6656888	0.83[AMR][1000 genomes]
rs6677890	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684579	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs693127	0.84[AMR][1000 genomes]
rs7514007	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531525	0.82[AMR][1000 genomes]
rs7538210	0.86[AMR][1000 genomes]
rs9730688	0.85[AMR][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	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
2	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
3	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
4	nsv870608	chr1:78520822-78594286	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78515400-78534200	Weak transcription	HepG2	liver
2	chr1:78519000-78536000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:78521600-78534600	Weak transcription	Colonic Mucosa	Colon
4	chr1:78521800-78527600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:78521800-78527800	Weak transcription	HUVEC	blood vessel
6	chr1:78521800-78534600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:78522200-78529800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:78525400-78534400	Weak transcription	Pancreas	Pancrea
9	chr1:78525600-78534000	Weak transcription	Fetal Intestine Small	intestine
10	chr1:78526600-78528200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:78526600-78528200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:78526600-78528200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:78526600-78528200	Enhancers	HSMM	muscle
14	chr1:78526600-78528200	Enhancers	NHEK	skin
15	chr1:78526600-78528400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:78526600-78528400	Enhancers	Osteobl	bone
17	chr1:78526800-78527800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:78526800-78527800	Enhancers	GM12878-XiMat	blood
19	chr1:78526800-78528000	Enhancers	HMEC	breast
20	chr1:78526800-78528200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:78526800-78528200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:78526800-78528200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:78526800-78528200	Enhancers	HSMMtube	muscle
24	chr1:78526800-78528200	Enhancers	NHDF-Ad	bronchial
25	chr1:78526800-78528400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:78526800-78528600	Enhancers	Psoas Muscle	Psoas
27	chr1:78526800-78528600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:78526800-78528600	Enhancers	Hela-S3	cervix
29	chr1:78527000-78527600	Enhancers	Left Ventricle	heart
30	chr1:78527000-78528200	Enhancers	Fetal Muscle Leg	muscle
31	chr1:78527000-78528200	Enhancers	NH-A	brain
32	chr1:78527000-78528200	Enhancers	NHLF	lung
33	chr1:78527000-78528400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:78527200-78527600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:78527400-78527600	Enhancers	Gastric	stomach
36	chr1:78527400-78528000	Enhancers	Fetal Heart	heart

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