Variant report

Variant	rs73091738
Chromosome Location	chr1:227238829-227238830
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227230140..227234774-chr1:227236431..227241922,5	K562	blood:
2	chr1:227236590..227238961-chr1:227241573..227243242,3	K562	blood:
3	chr1:227236504..227239220-chr1:227240349..227243242,4	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10495258	0.98[EUR][1000 genomes]
rs10495263	0.96[EUR][1000 genomes]
rs10495266	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10495269	0.98[EUR][1000 genomes]
rs10495270	0.98[EUR][1000 genomes]
rs11799413	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11800062	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11801443	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11802395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11803761	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11803959	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11805298	0.84[EUR][1000 genomes]
rs11806820	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11806937	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11808186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11809998	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12401556	0.95[EUR][1000 genomes]
rs12401963	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12403195	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12403391	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12403833	0.98[EUR][1000 genomes]
rs12404494	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12404627	0.98[EUR][1000 genomes]
rs12405122	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12405686	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12405707	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12405723	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12405878	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12407061	0.98[EUR][1000 genomes]
rs12407545	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12408437	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12409816	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12410337	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12410460	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12411017	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1320493	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1513600	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1513602	0.83[AMR][1000 genomes]
rs1513603	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16846855	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16846874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846877	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846908	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846910	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846911	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846972	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16846985	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16847014	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16847035	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16847098	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17605533	0.98[EUR][1000 genomes]
rs17851754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1877622	0.95[EUR][1000 genomes]
rs1888830	0.82[AFR][1000 genomes]
rs1888831	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2090009	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2150869	0.94[EUR][1000 genomes]
rs2150871	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2150873	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2183837	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34400564	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34953255	0.98[EUR][1000 genomes]
rs41303115	0.95[EUR][1000 genomes]
rs4551563	0.98[EUR][1000 genomes]
rs55685166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55865118	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56834719	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57513303	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58532064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59116340	0.84[EUR][1000 genomes]
rs59859849	0.83[AMR][1000 genomes]
rs60079575	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60291100	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60641481	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60866629	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60979561	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61522132	0.84[EUR][1000 genomes]
rs6675383	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6696791	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6696794	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6701743	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73086746	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73086752	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73086775	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73088658	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73089725	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089746	0.83[AFR][1000 genomes]
rs73089747	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090612	0.84[EUR][1000 genomes]
rs73091740	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091742	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091755	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091757	0.83[AFR][1000 genomes]
rs73091759	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091761	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091766	0.83[AFR][1000 genomes]
rs73091774	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73093463	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73093467	0.82[AFR][1000 genomes]
rs73093495	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73096883	0.81[AFR][1000 genomes]
rs73099023	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73099026	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100804	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100814	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100852	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102915	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102920	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73102930	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73102936	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7413768	0.95[EUR][1000 genomes]
rs74140276	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs74140278	0.83[AFR][1000 genomes]
rs74140289	0.81[AFR][1000 genomes]
rs74143321	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7534286	0.82[EUR][1000 genomes]
rs7535010	0.82[EUR][1000 genomes]
rs7539037	0.84[EUR][1000 genomes]
rs7539750	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1007352	chr1:227196502-227247160	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1010864	chr1:227199493-227246753	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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

No data

Chromatin state (count:81 , 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	chr1:227183200-227240400	Weak transcription	Colonic Mucosa	Colon
5	chr1:227190600-227272600	Weak transcription	Lung	lung
6	chr1:227203000-227278800	Weak transcription	Pancreas	Pancrea
7	chr1:227207600-227242000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:227209000-227272400	Weak transcription	Fetal Intestine Small	intestine
9	chr1:227209200-227301600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:227210600-227245800	Weak transcription	NHEK	skin
11	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
12	chr1:227216800-227239400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:227216800-227287600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:227217000-227264400	Weak transcription	NHLF	lung
15	chr1:227217000-227271400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:227217000-227278800	Weak transcription	Placenta	Placenta
17	chr1:227217200-227241800	Weak transcription	HepG2	liver
18	chr1:227220600-227255800	Weak transcription	Gastric	stomach
19	chr1:227220600-227272600	Weak transcription	Aorta	Aorta
20	chr1:227220600-227288000	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:227220800-227256800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:227222000-227253000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:227222600-227256800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:227223400-227245800	Weak transcription	Osteobl	bone
25	chr1:227226600-227270800	Weak transcription	Fetal Brain Female	brain
26	chr1:227226800-227260400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:227226800-227272400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:227226800-227278400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:227226800-227285600	Weak transcription	Brain Germinal Matrix	brain
30	chr1:227227000-227256600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:227227000-227272200	Weak transcription	Fetal Heart	heart
32	chr1:227227000-227282200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:227227400-227239400	Weak transcription	Left Ventricle	heart
34	chr1:227227400-227253000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:227227400-227256400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:227227400-227256800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:227227400-227259800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:227227400-227272400	Weak transcription	Ovary	ovary
39	chr1:227227400-227281200	Weak transcription	Fetal Kidney	kidney
40	chr1:227227400-227284200	Weak transcription	Brain Angular Gyrus	brain
41	chr1:227227600-227259200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:227227800-227245200	Weak transcription	HMEC	breast
43	chr1:227227800-227246000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:227227800-227246000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:227228000-227247600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:227228000-227277000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:227232000-227256600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:227232200-227241800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:227232800-227279200	Weak transcription	Stomach Mucosa	stomach
50	chr1:227234200-227253000	Weak transcription	Fetal Stomach	stomach

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