Variant report

Variant	rs12027451
Chromosome Location	chr1:173474723-173474724
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	chr1:173446841..173450176-chr1:173473892..173477707,4	K562	blood:
2	chr1:173445244..173446787-chr1:173474590..173476613,2	K562	blood:
3	chr1:173445909..173448174-chr1:173472992..173475545,2	MCF-7	breast:
4	chr1:173474043..173476441-chr1:173505318..173508116,2	K562	blood:
5	chr1:173471541..173474738-chr1:173476002..173477727,3	MCF-7	breast:
6	chr1:173444700..173449124-chr1:173472471..173476984,5	MCF-7	breast:
7	chr1:173474657..173477081-chr1:173504747..173506789,2	MCF-7	breast:
8	chr1:173445753..173447978-chr1:173472675..173475693,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117592	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1024266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10399838	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10494490	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10737303	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798283	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10798284	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798285	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10912621	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10912624	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10912625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912632	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10912634	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10912635	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10912636	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10912641	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10912642	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10912643	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10912651	0.81[AMR][1000 genomes]
rs11582670	0.83[AMR][1000 genomes]
rs12026427	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12026637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026993	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12027495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033623	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12034341	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12034533	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12035105	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12037210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12041114	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12065426	0.81[ASN][1000 genomes]
rs12080769	0.81[ASN][1000 genomes]
rs12406352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12406500	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1461014	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1461023	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1547155	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1547156	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16846113	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16846206	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1886639	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1925340	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2017323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2422433	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34025182	0.81[ASN][1000 genomes]
rs34332254	0.81[ASN][1000 genomes]
rs35379498	0.81[ASN][1000 genomes]
rs4336887	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4916365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916368	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60043192	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425248	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6425249	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6675929	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6687872	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6702320	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72709325	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs728908	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs745573	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs745574	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7520814	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7521536	0.81[ASN][1000 genomes]
rs7524403	0.81[ASN][1000 genomes]
rs7524592	0.81[ASN][1000 genomes]
rs7525100	0.81[ASN][1000 genomes]
rs7529089	0.81[ASN][1000 genomes]
rs7529377	0.81[ASN][1000 genomes]
rs898657	0.83[AMR][1000 genomes]
rs898658	0.81[AMR][1000 genomes]
rs898659	0.81[AMR][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	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173448000-173477000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:173458600-173475600	Weak transcription	Fetal Kidney	kidney
3	chr1:173458600-173476600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:173459400-173475400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:173466400-173475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:173472800-173474800	Weak transcription	HSMMtube	muscle
7	chr1:173472800-173475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:173473200-173475400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:173473200-173475800	Weak transcription	NHLF	lung
10	chr1:173473200-173476200	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:173473200-173476200	Weak transcription	K562	blood
12	chr1:173473200-173476600	Weak transcription	NHDF-Ad	bronchial
13	chr1:173473400-173475600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:173473600-173476600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:173473800-173474800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:173473800-173475400	Weak transcription	Adipose Nuclei	Adipose
17	chr1:173473800-173475400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:173473800-173475400	Weak transcription	Stomach Mucosa	stomach
19	chr1:173473800-173476600	Enhancers	Hela-S3	cervix
20	chr1:173474000-173475400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:173474000-173476800	Weak transcription	Fetal Brain Female	brain
22	chr1:173474200-173475400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:173474200-173476400	Weak transcription	Fetal Brain Male	brain
24	chr1:173474600-173475400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:173474600-173476200	Enhancers	A549	lung

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