Variant report

Variant	rs7547467
Chromosome Location	chr1:245868108-245868109
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12026302	0.89[EUR][1000 genomes]
rs12403283	0.89[EUR][1000 genomes]
rs3820246	0.89[EUR][1000 genomes]
rs57704153	0.89[EUR][1000 genomes]
rs58427858	0.89[EUR][1000 genomes]
rs72475064	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007728	chr1:245235174-246156455	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1002499	chr1:245365351-245929051	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv497871	chr1:245706209-246655353	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv534412	chr1:245747724-246655416	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv3403138	chr1:245793113-245892931	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1003594	chr1:245801793-246649329	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	esv2752867	chr1:245829959-245932959	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1004412	chr1:245830921-246169054	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv535385	chr1:245830921-246169054	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv873404	chr1:245850095-245964511	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:245844200-245870400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:245850000-245878200	Weak transcription	Placenta	Placenta
3	chr1:245850200-245868600	Weak transcription	Gastric	stomach
4	chr1:245850400-245878200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:245851000-245873200	Weak transcription	Right Ventricle	heart
6	chr1:245852200-245875400	Weak transcription	Brain Germinal Matrix	brain
7	chr1:245852800-245869400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:245856200-245874400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:245860800-245870600	Strong transcription	Fetal Stomach	stomach
10	chr1:245863400-245869800	Weak transcription	Fetal Intestine Large	intestine
11	chr1:245863800-245869800	Weak transcription	GM12878-XiMat	blood
12	chr1:245864800-245868200	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:245865400-245868800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:245866200-245870200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:245866400-245874400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:245867000-245874400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:245867400-245868200	Enhancers	Fetal Heart	heart
18	chr1:245867400-245869200	Enhancers	Left Ventricle	heart
19	chr1:245867600-245868400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:245867600-245868400	Enhancers	NH-A	brain
21	chr1:245867600-245868600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:245867600-245868600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:245867600-245868600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:245867600-245872000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:245867600-245874600	Weak transcription	Fetal Brain Female	brain
26	chr1:245867800-245868200	Enhancers	NHLF	lung
27	chr1:245867800-245868400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:245867800-245868600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:245867800-245868600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:245867800-245868600	Enhancers	Adipose Nuclei	Adipose
31	chr1:245867800-245868600	Bivalent Enhancer	Hela-S3	cervix
32	chr1:245867800-245868600	Enhancers	Osteobl	bone
33	chr1:245867800-245869200	Enhancers	Esophagus	oesophagus
34	chr1:245868000-245868600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:245868000-245868600	Enhancers	NHDF-Ad	bronchial
36	chr1:245868000-245869200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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