Variant report

Variant	rs57393000
Chromosome Location	chr1:95124509-95124510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95115535..95119175-chr1:95123580..95126438,3	K562	blood:

Variant related genes	Relation type
ENSG00000232857	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11165194	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11165196	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12041069	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12409691	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61302933	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6699528	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs841334	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs841336	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs841337	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs841343	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs841344	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs841345	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs841346	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs841347	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs841348	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs841349	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	esv2755232	chr1:95119790-95151813	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv432509	chr1:95119790-95151813	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756851	chr1:95119790-95158603	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2758950	chr1:95119790-95158603	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv462528	chr1:95122518-95142843	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv546852	chr1:95122518-95142843	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv437227	chr1:95122565-95143548	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95114600-95126600	Weak transcription	Esophagus	oesophagus
2	chr1:95119000-95125000	Enhancers	Fetal Heart	heart
3	chr1:95119600-95125200	Enhancers	Hela-S3	cervix
4	chr1:95119600-95126400	Weak transcription	Left Ventricle	heart
5	chr1:95120000-95126000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:95120000-95126600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:95120000-95126600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:95120800-95126400	Weak transcription	Pancreas	Pancrea
9	chr1:95121000-95126400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:95121600-95126200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:95122400-95125000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:95122600-95125000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:95122600-95125000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:95122600-95125000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:95122600-95125000	Enhancers	NHEK	skin
16	chr1:95122800-95126000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:95123400-95124600	Enhancers	Fetal Intestine Large	intestine
18	chr1:95123400-95124800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:95123400-95125000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:95123400-95125000	Enhancers	Fetal Intestine Small	intestine
21	chr1:95123800-95126400	Weak transcription	Right Atrium	heart
22	chr1:95124000-95125400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:95124000-95126200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:95124000-95126400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:95124000-95126400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:95124000-95126400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:95124000-95126400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:95124000-95126400	Weak transcription	HMEC	breast
29	chr1:95124000-95126400	Weak transcription	NHLF	lung
30	chr1:95124000-95126800	Weak transcription	HepG2	liver
31	chr1:95124200-95125400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:95124200-95125800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:95124200-95126000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:95124200-95126000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:95124200-95126000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:95124200-95126200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:95124200-95126200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:95124200-95126400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:95124200-95126400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:95124200-95126400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:95124200-95126400	Weak transcription	Gastric	stomach
42	chr1:95124200-95126400	Weak transcription	NHDF-Ad	bronchial
43	chr1:95124200-95126600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:95124200-95126600	Weak transcription	Stomach Mucosa	stomach
45	chr1:95124200-95127000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:95124200-95131800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr1:95124400-95124800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:95124400-95126400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:95124400-95126400	Weak transcription	NH-A	brain

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