Variant report

Variant	rs12540060
Chromosome Location	chr7:128026042-128026043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127989735..127992397-chr7:128023905..128026447,2	K562	blood:
2	chr7:127987695..127989209-chr7:128025745..128028216,2	MCF-7	breast:
3	chr7:127987745..127988284-chr7:128025488..128026141,2	K562	blood:
4	chr7:127985149..127987590-chr7:128025548..128027554,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10954185	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11763326	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11764599	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11766743	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11769087	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11769168	0.82[AMR][1000 genomes]
rs11771063	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11771514	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12532613	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12540762	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1864232	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2288550	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35501542	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3793164	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55706726	0.82[AMR][1000 genomes]
rs57124454	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57715170	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58727049	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62481099	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62481100	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62481103	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62481115	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62481116	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62481123	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62481124	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128021000-128032200	Weak transcription	Colonic Mucosa	Colon
3	chr7:128021400-128031200	Weak transcription	Lung	lung
4	chr7:128021600-128031600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:128021800-128026600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:128021800-128031200	Weak transcription	A549	lung
7	chr7:128021800-128032600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:128022000-128027400	Weak transcription	Adipose Nuclei	Adipose
9	chr7:128022000-128027600	Weak transcription	Spleen	Spleen
10	chr7:128023000-128026800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:128023000-128027600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:128023200-128027000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:128023200-128028000	Weak transcription	K562	blood
14	chr7:128023400-128027000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:128024200-128026600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:128024200-128027400	Weak transcription	HSMM	muscle
17	chr7:128024200-128027600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:128024200-128029800	Weak transcription	Esophagus	oesophagus
19	chr7:128024200-128034600	Weak transcription	HMEC	breast
20	chr7:128024400-128027200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:128024400-128027200	Weak transcription	Hela-S3	cervix
22	chr7:128024600-128026600	Weak transcription	Brain Germinal Matrix	brain
23	chr7:128024600-128027200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:128024600-128027400	Weak transcription	HSMMtube	muscle
25	chr7:128024600-128027600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:128024600-128031800	Weak transcription	Aorta	Aorta
27	chr7:128025000-128027200	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:128025200-128028200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:128025400-128027800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:128025600-128026200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr7:128025800-128027600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:128026000-128028000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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