Variant report

Variant	rs2964554
Chromosome Location	chr5:114700954-114700955
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114700686..114702330-chr5:114878580..114880982,2	MCF-7	breast:
2	chr5:114684315..114686804-chr5:114699761..114703151,3	MCF-7	breast:
3	chr5:114700131..114702425-chr5:114706517..114709440,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145780	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10039741	1.00[EUR][1000 genomes]
rs10057172	1.00[CEU][hapmap]
rs10074300	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10477530	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17137659	1.00[EUR][1000 genomes]
rs2605198	1.00[CEU][hapmap]
rs2925164	0.90[EUR][1000 genomes]
rs2925165	0.90[EUR][1000 genomes]
rs2925167	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2925168	0.90[EUR][1000 genomes]
rs2925169	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2925171	1.00[EUR][1000 genomes]
rs2963743	0.90[EUR][1000 genomes]
rs2963744	0.90[EUR][1000 genomes]
rs2963745	0.86[EUR][1000 genomes]
rs2963746	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2963748	1.00[EUR][1000 genomes]
rs2963759	1.00[EUR][1000 genomes]
rs2963760	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2963762	1.00[EUR][1000 genomes]
rs2963763	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2963766	1.00[EUR][1000 genomes]
rs2964551	0.90[EUR][1000 genomes]
rs2964552	0.90[EUR][1000 genomes]
rs2964553	0.90[EUR][1000 genomes]
rs2964555	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2964556	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2964557	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2964558	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2964559	1.00[EUR][1000 genomes]
rs62370830	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2757132	chr5:114697260-114737583	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2759370	chr5:114697260-114737583	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114690800-114701400	Weak transcription	Hela-S3	cervix
2	chr5:114696400-114701400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:114696400-114701400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:114696400-114701400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:114696400-114701400	Weak transcription	NH-A	brain
6	chr5:114696400-114701400	Weak transcription	NHLF	lung
7	chr5:114696400-114701600	Weak transcription	Osteobl	bone
8	chr5:114696400-114701800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:114696600-114701400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:114696600-114701400	Weak transcription	HSMMtube	muscle
11	chr5:114696600-114701600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:114696600-114701600	Weak transcription	A549	lung
13	chr5:114696600-114701800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:114696800-114702000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:114696800-114704200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:114699600-114702600	Enhancers	Fetal Muscle Leg	muscle
17	chr5:114699800-114701400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:114699800-114701400	Weak transcription	Right Ventricle	heart
19	chr5:114699800-114706600	Weak transcription	Gastric	stomach
20	chr5:114700000-114701400	Weak transcription	Psoas Muscle	Psoas
21	chr5:114700000-114703000	Enhancers	HUVEC	blood vessel
22	chr5:114700000-114704200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:114700200-114701400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:114700200-114715800	Weak transcription	Pancreas	Pancrea
25	chr5:114700400-114701200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:114700600-114701000	Weak transcription	NHDF-Ad	bronchial

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