Variant report

Variant	rs73102936
Chromosome Location	chr1:227330951-227330952
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	chr1:227323669..227325656-chr1:227329676..227331291,2	K562	blood:

Extended variants
information (count: 172 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs1015815	0.86[AMR][1000 genomes]
rs1015816	0.80[AMR][1000 genomes]
rs10495258	0.95[EUR][1000 genomes]
rs10495263	0.94[EUR][1000 genomes]
rs10495266	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10495269	0.95[EUR][1000 genomes]
rs10495270	0.95[EUR][1000 genomes]
rs10916109	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10916114	0.81[AMR][1000 genomes]
rs11799413	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11800062	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11801443	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11801994	0.82[EUR][1000 genomes]
rs11802395	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11803590	0.82[EUR][1000 genomes]
rs11803761	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11803959	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11805298	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11806820	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11806937	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11808186	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11808928	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11809998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11810328	0.83[AMR][1000 genomes]
rs11811100	0.83[AFR][1000 genomes]
rs11811358	0.83[AMR][1000 genomes]
rs12401556	0.93[EUR][1000 genomes]
rs12401963	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12402456	0.82[EUR][1000 genomes]
rs12403195	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12403391	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12403833	0.95[EUR][1000 genomes]
rs12404494	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12404627	0.95[EUR][1000 genomes]
rs12405122	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12405686	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12405707	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12405723	0.88[EUR][1000 genomes]
rs12405878	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12407061	0.95[EUR][1000 genomes]
rs12407545	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12408437	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12409816	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12410337	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12410460	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12411017	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1320493	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1464077	0.83[AMR][1000 genomes]
rs1513600	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1513602	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1513603	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1546557	0.83[AMR][1000 genomes]
rs16846855	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16846874	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16846877	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16846908	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16846910	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16846911	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16846972	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16846985	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16847014	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16847035	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16847098	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16847492	0.81[EUR][1000 genomes]
rs17605533	0.95[EUR][1000 genomes]
rs17851754	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1877622	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1888831	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2090009	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2150869	0.92[EUR][1000 genomes]
rs2150871	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2150873	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2183837	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34400564	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34953255	0.95[EUR][1000 genomes]
rs41270149	0.82[EUR][1000 genomes]
rs41303115	0.93[EUR][1000 genomes]
rs4282782	0.83[AMR][1000 genomes]
rs4354510	0.83[AMR][1000 genomes]
rs4434814	0.83[AMR][1000 genomes]
rs4437846	0.81[AMR][1000 genomes]
rs4518864	0.83[AMR][1000 genomes]
rs4551563	0.95[EUR][1000 genomes]
rs55685166	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55805110	0.83[AMR][1000 genomes]
rs55865118	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55946024	0.83[AMR][1000 genomes]
rs56352806	0.81[AFR][1000 genomes]
rs56834719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57276421	0.82[EUR][1000 genomes]
rs57454791	0.83[AFR][1000 genomes]
rs57513303	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57758974	0.83[AMR][1000 genomes]
rs58489467	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58532064	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59116340	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59121440	0.83[AMR][1000 genomes]
rs59859849	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60068245	0.83[AMR][1000 genomes]
rs60079575	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60235610	0.82[EUR][1000 genomes]
rs60291100	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60641481	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60742095	0.83[AMR][1000 genomes]
rs60866629	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60958272	0.81[EUR][1000 genomes]
rs60979561	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61081394	0.83[AMR][1000 genomes]
rs61522132	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6659506	0.83[AMR][1000 genomes]
rs6675383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6696791	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6696794	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6701743	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73086746	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73086752	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73086775	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73088658	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73089725	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73089747	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73089755	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089760	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089765	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089770	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73090612	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73091738	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091740	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091742	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091755	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091759	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091761	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091774	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73093463	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73093495	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73094351	0.81[AFR][1000 genomes]
rs73094393	0.82[EUR][1000 genomes]
rs73094400	0.81[EUR][1000 genomes]
rs73096317	0.81[EUR][1000 genomes]
rs73096350	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73096353	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73096358	0.83[AMR][1000 genomes]
rs73099023	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73099026	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73100804	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73100814	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73100852	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73102915	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73102920	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102930	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7413768	0.98[EUR][1000 genomes]
rs74140153	0.83[AMR][1000 genomes]
rs74140276	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs74143321	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7515739	0.83[AMR][1000 genomes]
rs7534286	0.84[EUR][1000 genomes]
rs7535010	0.84[EUR][1000 genomes]
rs7539037	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7539750	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7544923	0.81[EUR][1000 genomes]
rs7545775	0.81[EUR][1000 genomes]
rs7551556	0.83[AMR][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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
2	chr1:227272800-227331000	Weak transcription	Lung	lung
3	chr1:227287400-227360800	Weak transcription	Psoas Muscle	Psoas
4	chr1:227288200-227332400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:227288400-227343000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:227288600-227332400	Weak transcription	NHLF	lung
8	chr1:227288600-227333600	Weak transcription	Esophagus	oesophagus
9	chr1:227295200-227346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:227298600-227351800	Weak transcription	Hela-S3	cervix
11	chr1:227299800-227332600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:227300000-227333800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:227300000-227379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:227300200-227334400	Weak transcription	Stomach Mucosa	stomach
15	chr1:227316600-227352200	Weak transcription	Gastric	stomach
16	chr1:227316800-227331000	Weak transcription	HSMMtube	muscle
17	chr1:227317000-227374200	Weak transcription	HepG2	liver
18	chr1:227317200-227331000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:227317600-227331000	Weak transcription	NHEK	skin
20	chr1:227319600-227332400	Weak transcription	Brain Angular Gyrus	brain
21	chr1:227323200-227342600	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:227323200-227346400	Weak transcription	Brain Substantia Nigra	brain
23	chr1:227324200-227348400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:227325200-227333800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:227325400-227333400	Strong transcription	Adipose Nuclei	Adipose
26	chr1:227325400-227334400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:227325400-227334800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:227325400-227335200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:227325600-227333600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:227325600-227333600	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr1:227326200-227331600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:227326200-227333600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:227326200-227333800	Strong transcription	Liver	Liver
34	chr1:227326400-227333400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:227326600-227333400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:227326600-227334600	Strong transcription	HUVEC	blood vessel
37	chr1:227326600-227355200	Weak transcription	Small Intestine	intestine
38	chr1:227326800-227331000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:227327000-227331000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:227327000-227334600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:227327000-227346200	Weak transcription	NH-A	brain
42	chr1:227327000-227346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:227327000-227347600	Weak transcription	Fetal Heart	heart
44	chr1:227327200-227331200	Weak transcription	A549	lung
45	chr1:227327200-227341200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr1:227327200-227348200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr1:227327200-227348200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:227328000-227333400	Strong transcription	Brain Hippocampus Middle	brain
49	chr1:227328000-227335000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:227328000-227354400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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