Variant report

Variant	rs73100813
Chromosome Location	chr1:227301000-227301001
allele	A/G
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	E2F4	chr1:227300947-227301003	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
CDC42BPA	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11800447	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11803919	0.83[AFR][1000 genomes]
rs11806820	0.83[AFR][1000 genomes]
rs11807094	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808962	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11811100	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12403391	0.81[AFR][1000 genomes]
rs12404494	0.81[AFR][1000 genomes]
rs12405122	0.83[AFR][1000 genomes]
rs12405878	0.83[AFR][1000 genomes]
rs12408437	0.83[AFR][1000 genomes]
rs1513600	0.81[AFR][1000 genomes]
rs16847098	0.83[AFR][1000 genomes]
rs16847249	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1888830	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2090009	0.83[AFR][1000 genomes]
rs56352806	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56389454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57454791	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57513303	0.83[AFR][1000 genomes]
rs57752854	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60291100	0.83[AFR][1000 genomes]
rs60483746	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6701743	0.81[AFR][1000 genomes]
rs73089725	0.81[AFR][1000 genomes]
rs73089746	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089747	0.81[AFR][1000 genomes]
rs73091757	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091766	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092520	1.00[AMR][1000 genomes]
rs73092602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73093467	0.95[AFR][1000 genomes]
rs73093495	0.81[AFR][1000 genomes]
rs73094331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73096883	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73099023	0.83[AFR][1000 genomes]
rs73099026	0.83[AFR][1000 genomes]
rs73100804	0.83[AFR][1000 genomes]
rs73100814	0.82[AFR][1000 genomes]
rs73102918	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140233	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs74140278	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140289	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7525352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1011654	chr1:227196502-227308416	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv522990	chr1:227290139-227302912	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	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
12	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

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227209200-227301600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
3	chr1:227257800-227312200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
5	chr1:227272800-227331000	Weak transcription	Lung	lung
6	chr1:227273000-227312400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:227275800-227302600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:227277200-227302600	Weak transcription	Brain Substantia Nigra	brain
9	chr1:227282600-227318000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:227285600-227308600	Weak transcription	Pancreas	Pancrea
11	chr1:227285600-227313800	Weak transcription	Gastric	stomach
12	chr1:227286400-227328200	Weak transcription	Brain Germinal Matrix	brain
13	chr1:227287400-227360800	Weak transcription	Psoas Muscle	Psoas
14	chr1:227288000-227326400	Weak transcription	A549	lung
15	chr1:227288200-227332400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:227288400-227302200	Weak transcription	Fetal Brain Male	brain
17	chr1:227288400-227343000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:227288600-227310800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:227288600-227312200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:227288600-227313000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:227288600-227316000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:227288600-227328200	Weak transcription	Fetal Stomach	stomach
24	chr1:227288600-227332400	Weak transcription	NHLF	lung
25	chr1:227288600-227333600	Weak transcription	Esophagus	oesophagus
26	chr1:227288800-227317200	Weak transcription	NHEK	skin
27	chr1:227288800-227330000	Weak transcription	NHDF-Ad	bronchial
28	chr1:227289000-227312000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:227290200-227309800	Weak transcription	Fetal Intestine Small	intestine
30	chr1:227295200-227301200	Weak transcription	Fetal Heart	heart
31	chr1:227295200-227316000	Weak transcription	Fetal Kidney	kidney
32	chr1:227295200-227346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:227295400-227301200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:227295400-227310800	Weak transcription	Brain Angular Gyrus	brain
35	chr1:227295400-227313800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:227296000-227310600	Weak transcription	Small Intestine	intestine
37	chr1:227296400-227326200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:227296600-227316400	Weak transcription	HSMMtube	muscle
39	chr1:227296600-227326200	Weak transcription	Fetal Lung	lung
40	chr1:227298600-227351800	Weak transcription	Hela-S3	cervix
41	chr1:227299200-227318800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:227299600-227302600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:227299800-227304600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:227299800-227306600	Weak transcription	HUVEC	blood vessel
45	chr1:227299800-227313800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:227299800-227319600	Weak transcription	Fetal Intestine Large	intestine
47	chr1:227299800-227332600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:227300000-227310800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:227300000-227310800	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:227300000-227311800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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