Variant report

Variant	rs6463451
Chromosome Location	chr7:47869751-47869752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:47869745-47869860	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:47868146..47869963-chr7:47873360..47875120,2	K562	blood:

Variant related genes	Relation type
PKD1L1	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10245949	1.00[CEU][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12670579	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13237611	0.95[CEU][hapmap]
rs1551275	0.86[CEU][hapmap]
rs17710832	1.00[CEU][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1980279	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2123608	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2177164	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3757379	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3800568	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4543454	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6947216	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6960513	0.86[CEU][hapmap]
rs6968437	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6975745	0.91[CEU][hapmap]
rs7777539	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7783295	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7783894	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7789224	0.86[ASN][1000 genomes]
rs876467	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs9639016	0.91[CEU][hapmap]
rs9639987	0.95[CEU][hapmap]

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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47852800-47879000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:47855000-47880200	Weak transcription	Lung	lung
3	chr7:47855800-47902400	Weak transcription	Adipose Nuclei	Adipose
4	chr7:47865600-47871000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:47866400-47869800	Enhancers	HSMMtube	muscle
6	chr7:47866400-47870600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:47866600-47869800	Enhancers	Brain Cingulate Gyrus	brain
8	chr7:47867200-47871200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:47867200-47886000	Weak transcription	Right Atrium	heart
10	chr7:47867800-47886000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:47868200-47872600	Weak transcription	Fetal Heart	heart
12	chr7:47868200-47872600	Weak transcription	Right Ventricle	heart
13	chr7:47868200-47874400	Weak transcription	Brain Germinal Matrix	brain
14	chr7:47868200-47876800	Weak transcription	Left Ventricle	heart
15	chr7:47868600-47870800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:47868600-47873400	Weak transcription	Fetal Stomach	stomach
17	chr7:47868600-47879200	Weak transcription	Pancreas	Pancrea
18	chr7:47868800-47886000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:47869600-47869800	Enhancers	Spleen	Spleen
20	chr7:47869600-47870000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:47869600-47870000	Enhancers	Fetal Muscle Trunk	muscle
22	chr7:47869600-47870000	Enhancers	Fetal Muscle Leg	muscle
23	chr7:47869600-47870400	Enhancers	Liver	Liver

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