Variant report

Variant	rs7786516
Chromosome Location	chr7:47867350-47867351
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	MXI1	chr7:47866305-47867973	IMR90	lung:	n/a	n/a
2	NFIC	chr7:47866728-47867522	SK-N-SH	brain:	n/a	n/a
3	STAT3	chr7:47867338-47867471	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
PKD1L1	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10254483	0.84[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10280228	0.86[CHB][hapmap]
rs1074780	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs1466203	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17628198	0.81[CEU][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17710771	1.00[JPT][hapmap]
rs2084951	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28459330	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28738706	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4720616	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4724646	0.85[EUR][1000 genomes]
rs4724647	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs4724649	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58632729	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62448555	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448558	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62448559	0.80[ASN][1000 genomes]
rs6944477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6960394	0.95[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6976799	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7781801	0.86[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7782936	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7798385	0.85[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7798593	0.90[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7806630	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7808397	0.85[EUR][1000 genomes]
rs921634	0.85[CEU][hapmap];0.83[AMR][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:34 , 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	chr7:47855000-47869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:47855000-47880200	Weak transcription	Lung	lung
4	chr7:47855800-47902400	Weak transcription	Adipose Nuclei	Adipose
5	chr7:47859000-47869000	Weak transcription	HSMM	muscle
6	chr7:47865600-47871000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:47865800-47868200	Enhancers	Fetal Heart	heart
8	chr7:47866200-47867400	Enhancers	Fetal Lung	lung
9	chr7:47866200-47867600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:47866200-47868600	Enhancers	Brain Anterior Caudate	brain
11	chr7:47866400-47868400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:47866400-47868400	Enhancers	Fetal Muscle Leg	muscle
13	chr7:47866400-47868600	Enhancers	Pancreas	Pancrea
14	chr7:47866400-47868800	Enhancers	Brain Substantia Nigra	brain
15	chr7:47866400-47869800	Enhancers	HSMMtube	muscle
16	chr7:47866400-47870600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:47866600-47868600	Enhancers	Brain Angular Gyrus	brain
18	chr7:47866600-47868600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr7:47866600-47868600	Enhancers	Fetal Stomach	stomach
20	chr7:47866600-47869800	Enhancers	Brain Cingulate Gyrus	brain
21	chr7:47866800-47868000	Enhancers	Fetal Brain Male	brain
22	chr7:47866800-47868200	Enhancers	Brain Germinal Matrix	brain
23	chr7:47866800-47868200	Enhancers	Left Ventricle	heart
24	chr7:47866800-47868200	Enhancers	Right Ventricle	heart
25	chr7:47866800-47868200	Enhancers	HMEC	breast
26	chr7:47866800-47868400	Enhancers	Fetal Muscle Trunk	muscle
27	chr7:47867000-47867400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:47867000-47867800	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr7:47867000-47868000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:47867200-47867800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr7:47867200-47868000	Weak transcription	Placenta	Placenta
32	chr7:47867200-47868200	Enhancers	Fetal Brain Female	brain
33	chr7:47867200-47871200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:47867200-47886000	Weak transcription	Right Atrium	heart

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