Variant report

Variant	rs7790476
Chromosome Location	chr7:47702761-47702762
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:47690491..47692702-chr7:47700621..47703207,2	MCF-7	breast:
2	chr7:47693435..47695263-chr7:47701187..47703601,2	K562	blood:

Variant related genes	Relation type
ENSG00000221845	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10951916	0.80[CEU][hapmap];0.84[GIH][hapmap]
rs11766347	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770543	1.00[CEU][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12531737	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12537656	0.80[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs13242997	0.80[CEU][hapmap];0.84[GIH][hapmap]
rs13243511	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35341430	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4724608	0.80[CEU][hapmap];0.84[GIH][hapmap]
rs4724610	0.80[CEU][hapmap]
rs6967317	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6969715	0.80[CEU][hapmap]
rs7790431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965924	0.80[CEU][hapmap];0.81[GIH][hapmap]

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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7790476	PKD1L1	cis	cerebellum	SCAN
rs7790476	CDC14C	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47695000-47711000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:47698400-47704200	Weak transcription	HepG2	liver
3	chr7:47699800-47705800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:47699800-47706000	Weak transcription	Pancreas	Pancrea
5	chr7:47700000-47708800	Weak transcription	Spleen	Spleen
6	chr7:47700600-47703400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:47700800-47703800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr7:47701000-47703400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:47701000-47704800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:47701000-47708800	Weak transcription	Right Ventricle	heart
11	chr7:47701200-47702800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:47701200-47704400	Weak transcription	HSMMtube	muscle
13	chr7:47701200-47705800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:47701600-47702800	Weak transcription	Fetal Intestine Small	intestine
15	chr7:47701600-47702800	Weak transcription	A549	lung
16	chr7:47701600-47703200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:47701600-47703400	Weak transcription	Fetal Intestine Large	intestine
18	chr7:47701600-47704200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:47701600-47705800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:47701600-47708400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:47701600-47708800	Weak transcription	Fetal Kidney	kidney
22	chr7:47701600-47709000	Weak transcription	Lung	lung
23	chr7:47701800-47704400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:47701800-47705200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr7:47701800-47705600	Weak transcription	NHLF	lung
26	chr7:47701800-47706400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:47701800-47707800	Weak transcription	Primary B cells from cord blood	blood
28	chr7:47702200-47702800	Weak transcription	Fetal Lung	lung
29	chr7:47702200-47703200	Weak transcription	Fetal Stomach	stomach
30	chr7:47702600-47703600	Enhancers	Psoas Muscle	Psoas
31	chr7:47702600-47704200	Enhancers	Fetal Muscle Leg	muscle
32	chr7:47702600-47708200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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