Variant report

Variant	rs73102930
Chromosome Location	chr1:227329044-227329045
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227327635..227329514-chr1:227357311..227359633,2	K562	blood:
2	chr1:227327253..227330264-chr1:227332146..227336856,4	K562	blood:

Extended variants
information (count: 169 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:158)

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	0.90[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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11800062	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11801443	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11801994	0.82[EUR][1000 genomes]
rs11802395	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11803590	0.82[EUR][1000 genomes]
rs11803761	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11803959	0.88[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11806937	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11808186	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11808928	0.82[EUR][1000 genomes]
rs11809998	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11810328	0.83[AMR][1000 genomes]
rs11811358	0.83[AMR][1000 genomes]
rs12401556	0.93[EUR][1000 genomes]
rs12401963	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12402456	0.82[EUR][1000 genomes]
rs12403195	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12403391	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12403833	0.95[EUR][1000 genomes]
rs12404494	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12404627	0.95[EUR][1000 genomes]
rs12405122	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12405686	0.88[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	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12405878	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12407061	0.95[EUR][1000 genomes]
rs12407545	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12408437	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12409816	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12410337	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12410460	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12411017	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1320493	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1464077	0.83[AMR][1000 genomes]
rs1513600	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1513602	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1513603	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1546557	0.83[AMR][1000 genomes]
rs16846855	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16846874	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16846877	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16846908	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16846910	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16846911	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16846972	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16846985	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16847014	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16847035	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16847098	0.96[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	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1877622	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1888831	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2090009	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2150869	0.92[EUR][1000 genomes]
rs2150871	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2150873	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2183837	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34400564	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	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55805110	0.83[AMR][1000 genomes]
rs55865118	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55946024	0.83[AMR][1000 genomes]
rs56834719	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57276421	0.82[EUR][1000 genomes]
rs57513303	0.96[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	0.90[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	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60068245	0.83[AMR][1000 genomes]
rs60079575	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60235610	0.82[EUR][1000 genomes]
rs60291100	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60641481	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60742095	0.83[AMR][1000 genomes]
rs60866629	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60958272	0.81[EUR][1000 genomes]
rs60979561	0.90[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	0.96[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	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6701743	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73086746	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73086752	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73086775	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73088658	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73089725	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73089747	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73089755	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089760	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089765	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089770	0.90[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	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091740	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091742	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091755	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091759	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091761	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73091774	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73093463	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73093495	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73099026	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73100804	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73100814	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73100852	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73102915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73102918	0.83[AFR][1000 genomes]
rs73102920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102936	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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs74143321	0.82[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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
2	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
3	chr1:227272800-227331000	Weak transcription	Lung	lung
4	chr1:227287400-227360800	Weak transcription	Psoas Muscle	Psoas
5	chr1:227288200-227332400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:227288400-227343000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:227288600-227332400	Weak transcription	NHLF	lung
9	chr1:227288600-227333600	Weak transcription	Esophagus	oesophagus
10	chr1:227288800-227330000	Weak transcription	NHDF-Ad	bronchial
11	chr1:227295200-227346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:227298600-227351800	Weak transcription	Hela-S3	cervix
13	chr1:227299800-227332600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:227300000-227329200	Weak transcription	Aorta	Aorta
15	chr1:227300000-227333800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:227300000-227379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:227300200-227334400	Weak transcription	Stomach Mucosa	stomach
18	chr1:227311000-227329200	Weak transcription	Pancreas	Pancrea
19	chr1:227311000-227329400	Weak transcription	Fetal Intestine Small	intestine
20	chr1:227314200-227329400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:227316600-227352200	Weak transcription	Gastric	stomach
22	chr1:227316800-227329200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:227316800-227331000	Weak transcription	HSMMtube	muscle
24	chr1:227317000-227374200	Weak transcription	HepG2	liver
25	chr1:227317200-227331000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:227317600-227331000	Weak transcription	NHEK	skin
27	chr1:227319600-227332400	Weak transcription	Brain Angular Gyrus	brain
28	chr1:227319800-227330600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:227323200-227342600	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:227323200-227346400	Weak transcription	Brain Substantia Nigra	brain
31	chr1:227323400-227330600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:227324200-227348400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:227325200-227333800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:227325400-227333400	Strong transcription	Adipose Nuclei	Adipose
35	chr1:227325400-227334400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:227325400-227334800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:227325400-227335200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:227325600-227333600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:227325600-227333600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr1:227326000-227329600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:227326000-227330200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:227326200-227329800	Strong transcription	HMEC	breast
43	chr1:227326200-227331600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:227326200-227333600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:227326200-227333800	Strong transcription	Liver	Liver
46	chr1:227326400-227333400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:227326600-227329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:227326600-227333400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:227326600-227334600	Strong transcription	HUVEC	blood vessel
50	chr1:227326600-227355200	Weak transcription	Small Intestine	intestine

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