Variant report

Variant	rs73460966
Chromosome Location	chr13:40006617-40006618
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:40005558..40007078-chr2:162165245..162166765,2	K562	blood:
2	chr13:40006578..40007559-chr8:43092929..43093431,2	MCF-7	breast:
3	chr13:40005558..40007078-chrX:124181522..124183042,2	MCF-7	breast:
4	chr13:40005578..40007079-chr8:43095031..43096734,3	MCF-7	breast:
5	chr13:40005558..40007078-chr8:43091430..43094429,2	K562	blood:
6	chr13:40006578..40007558-chrX:25127562..25128064,2	MCF-7	breast:
7	chr13:40005578..40008559-chr8:43094898..43096733,3	K562	blood:
8	chr13:40006578..40007558-chr8:43095226..43096057,2	MCF-7	breast:
9	chr13:40006578..40007078-chr8:43096078..43096981,2	MCF-7	breast:
10	chr13:40006578..40007558-chr8:43094711..43095212,2	MCF-7	breast:
11	chr1:215177498..215178498-chr13:40006578..40007578,2	MCF-7	breast:
12	chr13:40006558..40007078-chr8:43096234..43096754,2	MCF-7	breast:
13	chr13:40006558..40007078-chr8:43096233..43096753,2	MCF-7	breast:

No data

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11616809	1.00[EUR][1000 genomes]
rs1185407	1.00[EUR][1000 genomes]
rs1323939	1.00[EUR][1000 genomes]
rs1408178	1.00[EUR][1000 genomes]
rs1408180	1.00[EUR][1000 genomes]
rs1408181	1.00[EUR][1000 genomes]
rs17059785	1.00[AMR][1000 genomes]
rs56828330	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60460761	1.00[EUR][1000 genomes]
rs73458827	1.00[EUR][1000 genomes]
rs73458831	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458836	1.00[EUR][1000 genomes]
rs73458841	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458846	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458848	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458853	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458854	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458866	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458868	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458870	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73458872	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458874	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458876	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458878	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460938	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460941	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460943	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460944	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460945	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460957	1.00[EUR][1000 genomes]
rs73460972	1.00[EUR][1000 genomes]
rs73460981	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7993890	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7994955	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7999497	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9315684	1.00[EUR][1000 genomes]
rs9548762	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv900008	chr13:39962791-40020267	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39992000-40018600	Weak transcription	Right Ventricle	heart
2	chr13:39998000-40022200	Weak transcription	Ovary	ovary
3	chr13:39998200-40012200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:40004200-40018600	Weak transcription	Psoas Muscle	Psoas
5	chr13:40004400-40007600	Weak transcription	Fetal Lung	lung
6	chr13:40004800-40007800	Weak transcription	Fetal Muscle Leg	muscle
7	chr13:40004800-40011600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:40006200-40006800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:40006200-40006800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:40006200-40007000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr13:40006400-40006800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr13:40006400-40007000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:40006600-40006800	Enhancers	Left Ventricle	heart
14	chr13:40006600-40007000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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