Variant report

Variant	rs57454791
Chromosome Location	chr1:227333175-227333176
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227319066..227320904-chr1:227331310..227334061,2	K562	blood:
2	chr1:227327253..227330264-chr1:227332146..227336856,4	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11800447	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807094	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808962	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11809998	0.83[AFR][1000 genomes]
rs11811100	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16847249	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1888830	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56352806	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56389454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56834719	0.83[AFR][1000 genomes]
rs57752854	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58594824	0.87[AMR][1000 genomes]
rs58912997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59136460	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60079575	0.83[AFR][1000 genomes]
rs60483746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60866629	0.81[AFR][1000 genomes]
rs6675383	0.83[AFR][1000 genomes]
rs73086792	0.87[AFR][1000 genomes]
rs73089746	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091757	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091766	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092520	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092602	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73093467	0.84[AFR][1000 genomes]
rs73094331	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094355	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73096883	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100813	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102918	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102936	0.83[AFR][1000 genomes]
rs74140155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140233	0.85[AMR][1000 genomes]
rs74140278	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140289	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7525352	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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 target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv832792	chr1:227211378-227364992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv873239	chr1:227222125-227361072	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv468227	chr1:227223736-227340790	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv549269	chr1:227223736-227340790	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873240	chr1:227228946-227361072	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv873241	chr1:227242247-227361072	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv549270	chr1:227290139-227361072	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv2830098	chr1:227295716-227422234	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
2	chr1:227287400-227360800	Weak transcription	Psoas Muscle	Psoas
3	chr1:227288400-227343000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:227288600-227333600	Weak transcription	Esophagus	oesophagus
6	chr1:227295200-227346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:227298600-227351800	Weak transcription	Hela-S3	cervix
8	chr1:227300000-227333800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:227300000-227379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:227300200-227334400	Weak transcription	Stomach Mucosa	stomach
11	chr1:227316600-227352200	Weak transcription	Gastric	stomach
12	chr1:227317000-227374200	Weak transcription	HepG2	liver
13	chr1:227323200-227342600	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:227323200-227346400	Weak transcription	Brain Substantia Nigra	brain
15	chr1:227324200-227348400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:227325200-227333800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:227325400-227333400	Strong transcription	Adipose Nuclei	Adipose
18	chr1:227325400-227334400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:227325400-227334800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:227325400-227335200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:227325600-227333600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:227325600-227333600	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr1:227326200-227333600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:227326200-227333800	Strong transcription	Liver	Liver
25	chr1:227326400-227333400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:227326600-227333400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:227326600-227334600	Strong transcription	HUVEC	blood vessel
28	chr1:227326600-227355200	Weak transcription	Small Intestine	intestine
29	chr1:227327000-227334600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:227327000-227346200	Weak transcription	NH-A	brain
31	chr1:227327000-227346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:227327000-227347600	Weak transcription	Fetal Heart	heart
33	chr1:227327200-227341200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:227327200-227348200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:227327200-227348200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:227328000-227333400	Strong transcription	Brain Hippocampus Middle	brain
37	chr1:227328000-227335000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:227328000-227354400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:227328200-227333400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:227328200-227333400	Strong transcription	HSMM	muscle
41	chr1:227328400-227333400	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr1:227328400-227333400	Strong transcription	Fetal Muscle Leg	muscle
43	chr1:227328400-227335400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr1:227328400-227350000	Weak transcription	Fetal Brain Male	brain
45	chr1:227328600-227333200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr1:227328600-227333400	Strong transcription	Fetal Intestine Large	intestine
47	chr1:227328600-227333400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr1:227328600-227351600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:227328800-227346200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:227328800-227354200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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