Variant report

Variant	rs7307643
Chromosome Location	chr12:67809656-67809657
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:67750752..67751463-chr12:67809007..67809916,2	MCF-7	breast:
2	chr12:67748977..67750721-chr12:67808924..67810115,20	MCF-7	breast:
3	chr12:67757385..67758174-chr12:67809023..67809874,3	MCF-7	breast:
4	chr12:67554880..67555774-chr12:67809025..67809838,2	MCF-7	breast:
5	chr12:67781872..67782796-chr12:67809160..67809822,3	MCF-7	breast:
6	chr12:67803949..67805716-chr12:67809296..67811931,2	MCF-7	breast:
7	chr12:67749335..67750320-chr12:67808991..67809898,13	MCF-7	breast:
8	chr12:67770479..67771511-chr12:67808551..67809878,6	MCF-7	breast:

No data

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10128823	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10129028	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176672	1.00[EUR][1000 genomes]
rs11176676	1.00[EUR][1000 genomes]
rs11176679	1.00[EUR][1000 genomes]
rs11176684	1.00[EUR][1000 genomes]
rs11176691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176692	1.00[EUR][1000 genomes]
rs11176693	1.00[EUR][1000 genomes]
rs11176694	1.00[EUR][1000 genomes]
rs11176715	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176740	1.00[EUR][1000 genomes]
rs11176784	1.00[EUR][1000 genomes]
rs11503726	1.00[EUR][1000 genomes]
rs12297966	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299042	1.00[EUR][1000 genomes]
rs12299097	1.00[EUR][1000 genomes]
rs12300582	1.00[EUR][1000 genomes]
rs12303089	1.00[EUR][1000 genomes]
rs12306375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307363	1.00[EUR][1000 genomes]
rs12307464	1.00[EUR][1000 genomes]
rs12311491	1.00[EUR][1000 genomes]
rs12311797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12312040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313282	1.00[EUR][1000 genomes]
rs12314503	1.00[EUR][1000 genomes]
rs12315624	1.00[EUR][1000 genomes]
rs12318518	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318591	1.00[EUR][1000 genomes]
rs12318995	1.00[EUR][1000 genomes]
rs12320566	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321292	1.00[EUR][1000 genomes]
rs12321396	1.00[EUR][1000 genomes]
rs12322901	1.00[EUR][1000 genomes]
rs17103652	1.00[EUR][1000 genomes]
rs17103772	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17120707	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17120710	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4083304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57886620	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61504642	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6581751	1.00[EUR][1000 genomes]
rs7135195	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7138362	1.00[EUR][1000 genomes]
rs7294827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7306853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7312079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73320752	1.00[EUR][1000 genomes]
rs73322616	1.00[EUR][1000 genomes]
rs73326445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73326448	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73326466	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7954999	1.00[EUR][1000 genomes]
rs7964763	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7966031	1.00[EUR][1000 genomes]
rs7977574	1.00[EUR][1000 genomes]
rs9989007	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9989023	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67805400-67814000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:67805600-67813600	Weak transcription	Pancreas	Pancrea
3	chr12:67807400-67809800	Enhancers	Fetal Heart	heart
4	chr12:67807400-67810000	Enhancers	HSMMtube	muscle
5	chr12:67807800-67810000	Enhancers	Duodenum Mucosa	Duodenum
6	chr12:67808000-67809800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:67808000-67810200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr12:67808000-67813400	Weak transcription	Placenta	Placenta
9	chr12:67808000-67815400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:67808400-67813200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:67808600-67813000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:67808600-67818600	Weak transcription	Fetal Intestine Large	intestine
13	chr12:67808800-67813200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:67809000-67812800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:67809000-67813000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:67809000-67813000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:67809000-67814200	Weak transcription	Fetal Kidney	kidney
18	chr12:67809200-67810400	Weak transcription	HSMM	muscle
19	chr12:67809200-67813200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:67809200-67813200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:67809200-67813200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:67809200-67813400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:67809200-67819800	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:67809200-67824000	Weak transcription	Psoas Muscle	Psoas
25	chr12:67809400-67810400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:67809400-67813000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:67809400-67813000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:67809400-67813000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:67809600-67810000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:67809600-67810000	Weak transcription	Small Intestine	intestine

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