Variant report

Variant	rs17131827
Chromosome Location	chr7:47871970-47871971
allele	A/G
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	ZNF263	chr7:47871674-47872087	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:47871874..47874312-chr7:47876088..47879038,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf69-2	chr7:47870175-47872414	NONHSAT120520

Variant related genes	Relation type
PKD1L1	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10429127	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12702393	0.89[CEU][hapmap]
rs12702394	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12702395	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13241400	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13246591	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13247692	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13247756	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131825	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17131855	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17545682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1851403	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2123610	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34069037	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34703899	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34712849	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34811669	1.00[ASN][1000 genomes]
rs35781192	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4391316	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66733202	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66755489	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67572268	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6943137	1.00[ASN][1000 genomes]
rs6947342	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6950328	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962855	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73103467	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7780916	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7788583	0.81[CEU][hapmap]
rs7802098	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[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	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:18 , 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	chr7:47867200-47886000	Weak transcription	Right Atrium	heart
5	chr7:47867800-47886000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:47868200-47872600	Weak transcription	Fetal Heart	heart
7	chr7:47868200-47872600	Weak transcription	Right Ventricle	heart
8	chr7:47868200-47874400	Weak transcription	Brain Germinal Matrix	brain
9	chr7:47868200-47876800	Weak transcription	Left Ventricle	heart
10	chr7:47868600-47873400	Weak transcription	Fetal Stomach	stomach
11	chr7:47868600-47879200	Weak transcription	Pancreas	Pancrea
12	chr7:47868800-47886000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:47869800-47873200	Weak transcription	Spleen	Spleen
14	chr7:47869800-47885400	Weak transcription	HSMMtube	muscle
15	chr7:47870000-47875600	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:47870000-47880200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:47870800-47873800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:47871000-47876000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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