Variant report

Variant	rs56749748
Chromosome Location	chr1:171372511-171372512
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16864447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16864466	1.00[EUR][1000 genomes]
rs58479321	1.00[EUR][1000 genomes]
rs59719494	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036313	1.00[EUR][1000 genomes]
rs73036315	1.00[EUR][1000 genomes]
rs73036317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036333	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036360	1.00[EUR][1000 genomes]
rs73038304	1.00[EUR][1000 genomes]
rs73038313	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1002423	chr1:171294384-171376936	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171351600-171372600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:171366600-171372600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:171368600-171374000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:171371600-171373400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:171372000-171373000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:171372200-171372800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:171372200-171372800	Enhancers	Pancreas	Pancrea
8	chr1:171372200-171373000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:171372200-171373000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:171372200-171373200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:171372200-171373200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:171372200-171373200	Enhancers	Hela-S3	cervix
13	chr1:171372200-171373400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:171372200-171373400	Enhancers	HMEC	breast
15	chr1:171372200-171373400	Enhancers	NHEK	skin
16	chr1:171372200-171374400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:171372200-171374400	Enhancers	Placenta	Placenta
18	chr1:171372400-171372800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:171372400-171372800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:171372400-171372800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:171372400-171372800	Enhancers	Adipose Nuclei	Adipose
22	chr1:171372400-171372800	Enhancers	Gastric	stomach
23	chr1:171372400-171373000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:171372400-171373000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:171372400-171373200	Enhancers	Fetal Muscle Leg	muscle
26	chr1:171372400-171373200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr1:171372400-171373400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:171372400-171373400	Enhancers	Osteobl	bone
29	chr1:171372400-171373600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:171372400-171373600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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