Variant report

Variant	rs57844293
Chromosome Location	chr2:63968360-63968361
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:63960179..63963716-chr2:63967320..63970574,3	MCF-7	breast:
2	chr2:63965360..63967631-chr2:63967788..63969459,2	MCF-7	breast:
3	chr2:63963078..63965586-chr2:63967803..63969342,2	MCF-7	breast:
4	chr2:63967574..63971406-chr2:64066655..64070037,5	MCF-7	breast:
5	chr2:63966027..63970127-chr2:64066490..64069650,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169764	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10207257	0.89[AFR][1000 genomes]
rs13431437	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17028099	1.00[ASN][1000 genomes]
rs17554748	1.00[ASN][1000 genomes]
rs28838707	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3924029	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55748575	1.00[ASN][1000 genomes]
rs56342040	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57120200	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57184962	1.00[ASN][1000 genomes]
rs57329063	1.00[ASN][1000 genomes]
rs57413391	1.00[ASN][1000 genomes]
rs57877849	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58208651	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58422338	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58472560	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58495096	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59540641	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136361	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136362	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62136364	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136366	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136367	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136369	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136391	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136393	0.81[EUR][1000 genomes]
rs62136397	0.81[EUR][1000 genomes]
rs62136400	0.81[EUR][1000 genomes]
rs62136402	0.81[EUR][1000 genomes]
rs62137457	0.81[AMR][1000 genomes]
rs62138760	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138819	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138820	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138822	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138823	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138824	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745518	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6751397	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73937260	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73937264	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73937268	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601187	1.00[ASN][1000 genomes]
rs7606341	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834242	chr2:63891249-64045617	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	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	chr2:63957400-63971200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:63964400-63974000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:63964800-63968400	Weak transcription	NH-A	brain
4	chr2:63964800-63969800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:63965000-63969200	Weak transcription	Fetal Lung	lung
6	chr2:63965200-63969600	Weak transcription	Pancreas	Pancrea
7	chr2:63965200-63970200	Weak transcription	Psoas Muscle	Psoas
8	chr2:63965400-63968400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:63965400-63969200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:63965400-63969400	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:63965600-63969200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:63967400-63969400	Enhancers	Hela-S3	cervix
13	chr2:63967400-63969800	Enhancers	HepG2	liver
14	chr2:63967800-63969400	Enhancers	Liver	Liver
15	chr2:63967800-63969600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:63967800-63969600	Flanking Active TSS	A549	lung
17	chr2:63967800-63969800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:63967800-63969800	Enhancers	Osteobl	bone
19	chr2:63967800-63970000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:63967800-63970000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:63967800-63970000	Enhancers	HMEC	breast
22	chr2:63967800-63970000	Enhancers	NHEK	skin
23	chr2:63968000-63969000	Weak transcription	HSMM	muscle
24	chr2:63968000-63969200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:63968000-63969600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:63968000-63970000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:63968000-63970000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:63968000-63970200	Enhancers	Adipose Nuclei	Adipose
29	chr2:63968200-63968600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:63968200-63969200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:63968200-63969800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:63968200-63969800	Enhancers	NHDF-Ad	bronchial
33	chr2:63968200-63970000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:63968200-63970200	Enhancers	HUVEC	blood vessel
35	chr2:63968200-63970200	Enhancers	NHLF	lung
36	chr2:63968200-63971600	Enhancers	HSMMtube	muscle

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