Variant report

Variant	rs73091774
Chromosome Location	chr1:227253807-227253808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs10495258	0.98[EUR][1000 genomes]
rs10495263	0.96[EUR][1000 genomes]
rs10495266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10495269	0.98[EUR][1000 genomes]
rs10495270	0.98[EUR][1000 genomes]
rs10916109	0.89[AMR][1000 genomes]
rs11799413	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11800062	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11801443	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11801994	0.83[AMR][1000 genomes]
rs11802395	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11803590	0.83[AMR][1000 genomes]
rs11803761	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11803959	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11805298	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11806820	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11806937	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11808186	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808928	0.83[AMR][1000 genomes]
rs11809998	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12401556	0.95[EUR][1000 genomes]
rs12401963	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12402456	0.83[AMR][1000 genomes]
rs12403195	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12403391	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12403833	0.98[EUR][1000 genomes]
rs12403986	0.80[AMR][1000 genomes]
rs12404494	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12404627	0.98[EUR][1000 genomes]
rs12405122	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12405686	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12405707	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12405723	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12405878	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12407061	0.98[EUR][1000 genomes]
rs12407545	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12408437	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12409816	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12410337	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12410460	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12411017	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1320493	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1513600	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1513602	0.89[AMR][1000 genomes]
rs1513603	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16846855	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16846874	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846877	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846972	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16846985	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16847014	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16847035	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16847098	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847492	0.83[AMR][1000 genomes]
rs17605533	0.98[EUR][1000 genomes]
rs17851754	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1877622	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1888830	0.82[AFR][1000 genomes]
rs1888831	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2090009	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2150869	0.94[EUR][1000 genomes]
rs2150871	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2150873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2183837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34400564	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34953255	0.98[EUR][1000 genomes]
rs41270149	0.83[AMR][1000 genomes]
rs41303115	0.95[EUR][1000 genomes]
rs4551563	0.98[EUR][1000 genomes]
rs55685166	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55865118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55946024	0.89[AMR][1000 genomes]
rs56834719	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57276421	0.83[AMR][1000 genomes]
rs57513303	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58489467	0.89[AMR][1000 genomes]
rs58532064	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59116340	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59859849	0.89[AMR][1000 genomes]
rs60079575	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60235610	0.83[AMR][1000 genomes]
rs60291100	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60641481	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60866629	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60958272	0.83[AMR][1000 genomes]
rs60979561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61522132	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6675383	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6696791	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6696794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6701743	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73086746	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73086752	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73086775	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73088658	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73089725	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089746	0.83[AFR][1000 genomes]
rs73089747	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089755	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089760	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089765	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089770	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090612	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73091738	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091755	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091757	0.83[AFR][1000 genomes]
rs73091759	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091766	0.83[AFR][1000 genomes]
rs73093463	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73093467	0.82[AFR][1000 genomes]
rs73093495	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73094351	0.83[AMR][1000 genomes]
rs73094393	0.83[AMR][1000 genomes]
rs73094400	0.83[AMR][1000 genomes]
rs73096317	0.83[AMR][1000 genomes]
rs73096350	0.89[AMR][1000 genomes]
rs73096353	0.89[AMR][1000 genomes]
rs73096358	0.89[AMR][1000 genomes]
rs73096883	0.81[AFR][1000 genomes]
rs73099023	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73099026	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100804	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100814	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100852	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102915	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102920	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73102930	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73102936	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7413768	0.95[EUR][1000 genomes]
rs74140276	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs74140278	0.83[AFR][1000 genomes]
rs74140289	0.81[AFR][1000 genomes]
rs74143321	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7519099	0.83[AMR][1000 genomes]
rs7534286	0.82[EUR][1000 genomes]
rs7535010	0.82[EUR][1000 genomes]
rs7539037	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7539750	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7544923	0.83[AMR][1000 genomes]
rs7545775	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv997751	chr1:227196502-227263537	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	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
5	nsv1014423	chr1:227201253-227268843	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	nsv1012482	chr1:227212024-227271750	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	nsv998420	chr1:227228591-227275031	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	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
13	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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
2	chr1:227177400-227255200	Weak transcription	Small Intestine	intestine
3	chr1:227178400-227271200	Weak transcription	Psoas Muscle	Psoas
4	chr1:227190600-227272600	Weak transcription	Lung	lung
5	chr1:227203000-227278800	Weak transcription	Pancreas	Pancrea
6	chr1:227209000-227272400	Weak transcription	Fetal Intestine Small	intestine
7	chr1:227209200-227301600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
9	chr1:227216800-227287600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:227217000-227264400	Weak transcription	NHLF	lung
11	chr1:227217000-227271400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:227217000-227278800	Weak transcription	Placenta	Placenta
13	chr1:227220600-227255800	Weak transcription	Gastric	stomach
14	chr1:227220600-227272600	Weak transcription	Aorta	Aorta
15	chr1:227220600-227288000	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:227220800-227256800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:227222600-227256800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:227226600-227270800	Weak transcription	Fetal Brain Female	brain
19	chr1:227226800-227260400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:227226800-227272400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:227226800-227278400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:227226800-227285600	Weak transcription	Brain Germinal Matrix	brain
23	chr1:227227000-227256600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:227227000-227272200	Weak transcription	Fetal Heart	heart
25	chr1:227227000-227282200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:227227400-227256400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:227227400-227256800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:227227400-227259800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:227227400-227272400	Weak transcription	Ovary	ovary
30	chr1:227227400-227281200	Weak transcription	Fetal Kidney	kidney
31	chr1:227227400-227284200	Weak transcription	Brain Angular Gyrus	brain
32	chr1:227227600-227259200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:227228000-227277000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:227232000-227256600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:227232800-227279200	Weak transcription	Stomach Mucosa	stomach
36	chr1:227235400-227254400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:227235800-227256600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:227235800-227256800	Weak transcription	A549	lung
39	chr1:227235800-227257000	Weak transcription	NHDF-Ad	bronchial
40	chr1:227235800-227271000	Weak transcription	Fetal Muscle Leg	muscle
41	chr1:227236000-227286200	Weak transcription	Fetal Brain Male	brain
42	chr1:227238200-227256800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:227238400-227270600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:227238600-227278400	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:227239800-227271200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:227239800-227271400	Weak transcription	Fetal Intestine Large	intestine
47	chr1:227240000-227286800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:227240200-227266200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:227246400-227260600	Weak transcription	Osteobl	bone
50	chr1:227246400-227278400	Weak transcription	NH-A	brain

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