Variant report

Variant	rs73331736
Chromosome Location	chr7:47867145-47867146
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	CTCF	chr7:47867119-47867154	MCF-7	breast:	n/a	chr7:47867121-47867130

Variant related genes	Relation type
PKD1L1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1453286	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17131834	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4720617	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4720618	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57302548	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57408813	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58926467	0.85[AFR][1000 genomes]
rs59848490	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6463449	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6979042	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329487	1.00[AMR][1000 genomes]
rs73329500	1.00[AMR][1000 genomes]
rs73331721	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331746	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331750	1.00[AMR][1000 genomes]
rs73331759	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331766	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331768	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331771	1.00[AMR][1000 genomes]
rs73333609	1.00[AMR][1000 genomes]
rs73333660	1.00[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:32 , 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	chr7:47866400-47867200	Weak transcription	Fetal Brain Female	brain
12	chr7:47866400-47868400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:47866400-47868400	Enhancers	Fetal Muscle Leg	muscle
14	chr7:47866400-47868600	Enhancers	Pancreas	Pancrea
15	chr7:47866400-47868800	Enhancers	Brain Substantia Nigra	brain
16	chr7:47866400-47869800	Enhancers	HSMMtube	muscle
17	chr7:47866400-47870600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:47866600-47868600	Enhancers	Brain Angular Gyrus	brain
19	chr7:47866600-47868600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr7:47866600-47868600	Enhancers	Fetal Stomach	stomach
21	chr7:47866600-47869800	Enhancers	Brain Cingulate Gyrus	brain
22	chr7:47866800-47868000	Enhancers	Fetal Brain Male	brain
23	chr7:47866800-47868200	Enhancers	Brain Germinal Matrix	brain
24	chr7:47866800-47868200	Enhancers	Left Ventricle	heart
25	chr7:47866800-47868200	Enhancers	Right Ventricle	heart
26	chr7:47866800-47868200	Enhancers	HMEC	breast
27	chr7:47866800-47868400	Enhancers	Fetal Muscle Trunk	muscle
28	chr7:47867000-47867200	Enhancers	Placenta	Placenta
29	chr7:47867000-47867200	Enhancers	Right Atrium	heart
30	chr7:47867000-47867400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:47867000-47867800	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr7:47867000-47868000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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