Variant report

Variant	rs17710771
Chromosome Location	chr7:47856127-47856128
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	FOSL2	chr7:47855832-47856584	A549	lung:	n/a	chr7:47855901-47855910
2	MAX	chr7:47855513-47856659	A549	lung:	n/a	n/a
3	FOSL2	chr7:47856067-47856718	SK-N-SH	brain:	n/a	n/a
4	MAX	chr7:47855376-47856723	A549	lung:	n/a	n/a
5	GATA3	chr7:47855883-47856198	T-47D	breast:	n/a	n/a
6	MAX	chr7:47855797-47856591	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
PKD1L1	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10254483	1.00[JPT][hapmap]
rs1466203	1.00[JPT][hapmap]
rs2084951	0.81[ASN][1000 genomes]
rs4720616	1.00[JPT][hapmap]
rs6944477	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6960394	1.00[JPT][hapmap]
rs6976799	0.81[ASN][1000 genomes]
rs7781801	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7786516	1.00[JPT][hapmap]
rs7798385	1.00[JPT][hapmap]
rs7798593	1.00[JPT][hapmap]
rs7806630	1.00[JPT][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47846800-47858600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:47847600-47858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:47848400-47857600	Weak transcription	HSMMtube	muscle
4	chr7:47852400-47857800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:47852800-47879000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:47853000-47858600	Weak transcription	Placenta	Placenta
7	chr7:47853400-47858800	Weak transcription	Brain Substantia Nigra	brain
8	chr7:47853400-47859800	Enhancers	A549	lung
9	chr7:47853600-47858600	Weak transcription	Fetal Intestine Large	intestine
10	chr7:47853800-47858800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:47854000-47858600	Weak transcription	Fetal Intestine Small	intestine
12	chr7:47854800-47858600	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:47855000-47856400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:47855000-47856600	Enhancers	HepG2	liver
15	chr7:47855000-47858600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:47855000-47858600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:47855000-47869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:47855000-47880200	Weak transcription	Lung	lung
19	chr7:47855200-47856200	Enhancers	Aorta	Aorta
20	chr7:47855200-47858600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:47855400-47858800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:47855600-47856200	Enhancers	Spleen	Spleen
23	chr7:47855600-47856600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:47855800-47856400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:47855800-47856400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:47855800-47866800	Weak transcription	Left Ventricle	heart
27	chr7:47855800-47902400	Weak transcription	Adipose Nuclei	Adipose
28	chr7:47856000-47856400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:47856000-47856400	Enhancers	NHDF-Ad	bronchial
30	chr7:47856000-47856600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:47856000-47856600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:47856000-47856600	Enhancers	NH-A	brain
33	chr7:47856000-47856600	Enhancers	NHLF	lung
34	chr7:47856000-47857000	Enhancers	Muscle Satellite Cultured Cells	--

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