Variant report

Variant	rs73100804
Chromosome Location	chr1:227298607-227298608
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1015815	0.86[AMR][1000 genomes]
rs1015816	0.80[AMR][1000 genomes]
rs10495258	0.98[EUR][1000 genomes]
rs10495263	0.96[EUR][1000 genomes]
rs10495266	0.94[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]
rs10916109	0.83[AMR][1000 genomes]
rs10916114	0.81[AMR][1000 genomes]
rs11799413	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11800062	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11801443	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11802395	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11803761	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11803959	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11805298	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11806820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11806937	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11808186	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11809998	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11810328	0.83[AMR][1000 genomes]
rs11811358	0.83[AMR][1000 genomes]
rs12401556	0.95[EUR][1000 genomes]
rs12401963	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12403195	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12403391	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12403833	0.98[EUR][1000 genomes]
rs12404494	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12404627	0.98[EUR][1000 genomes]
rs12405122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12405686	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12405707	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12405723	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12405878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12407061	0.98[EUR][1000 genomes]
rs12407545	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12408437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12409816	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12410337	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12410460	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12411017	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1320493	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1464077	0.83[AMR][1000 genomes]
rs1513600	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1513602	0.83[AMR][1000 genomes]
rs1513603	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1546557	0.83[AMR][1000 genomes]
rs16846855	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16846874	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846877	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846908	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846910	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846911	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846972	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16846985	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16847014	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16847035	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16847098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17605533	0.98[EUR][1000 genomes]
rs17851754	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1877622	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1888831	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2090009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2150869	0.94[EUR][1000 genomes]
rs2150871	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2150873	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2183837	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34400564	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34953255	0.98[EUR][1000 genomes]
rs41303115	0.95[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	0.98[EUR][1000 genomes]
rs55685166	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55805110	0.83[AMR][1000 genomes]
rs55865118	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55946024	0.83[AMR][1000 genomes]
rs56834719	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57513303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57758974	0.83[AMR][1000 genomes]
rs58489467	0.83[AMR][1000 genomes]
rs58532064	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59116340	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59121440	0.83[AMR][1000 genomes]
rs59859849	0.83[AMR][1000 genomes]
rs60068245	0.83[AMR][1000 genomes]
rs60079575	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60291100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60641481	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60742095	0.83[AMR][1000 genomes]
rs60866629	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60979561	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61081394	0.83[AMR][1000 genomes]
rs61522132	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6659506	0.83[AMR][1000 genomes]
rs6675383	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6696791	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6696794	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6701743	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73086746	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73086752	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73086775	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73088658	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73089725	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089747	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73089755	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089760	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089765	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089770	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090612	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73091738	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091740	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091742	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091755	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091759	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091761	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091774	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73093463	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73093495	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73096350	0.83[AMR][1000 genomes]
rs73096353	0.83[AMR][1000 genomes]
rs73096358	0.83[AMR][1000 genomes]
rs73096883	0.81[AFR][1000 genomes]
rs73099023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73099026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100813	0.83[AFR][1000 genomes]
rs73100814	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100852	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102915	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73102920	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73102930	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73102936	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7413768	0.95[EUR][1000 genomes]
rs74140153	0.83[AMR][1000 genomes]
rs74140276	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs74140289	0.81[AFR][1000 genomes]
rs74143321	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7515739	0.83[AMR][1000 genomes]
rs7534286	0.82[EUR][1000 genomes]
rs7535010	0.82[EUR][1000 genomes]
rs7539037	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7539750	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7551556	0.83[AMR][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:91 , 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	chr1:227247400-227299800	Weak transcription	HMEC	breast
4	chr1:227251000-227300000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:227257800-227312200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
7	chr1:227271800-227299600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:227272800-227331000	Weak transcription	Lung	lung
9	chr1:227273000-227312400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:227275800-227302600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:227277200-227302600	Weak transcription	Brain Substantia Nigra	brain
12	chr1:227279800-227299000	Weak transcription	Placenta	Placenta
13	chr1:227280800-227298800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:227282600-227318000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:227285600-227308600	Weak transcription	Pancreas	Pancrea
16	chr1:227285600-227313800	Weak transcription	Gastric	stomach
17	chr1:227286400-227328200	Weak transcription	Brain Germinal Matrix	brain
18	chr1:227287400-227360800	Weak transcription	Psoas Muscle	Psoas
19	chr1:227288000-227326400	Weak transcription	A549	lung
20	chr1:227288200-227332400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:227288400-227299400	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:227288400-227299400	Weak transcription	Ovary	ovary
23	chr1:227288400-227299600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:227288400-227299600	Weak transcription	Osteobl	bone
25	chr1:227288400-227302200	Weak transcription	Fetal Brain Male	brain
26	chr1:227288400-227343000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:227288600-227298800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:227288600-227299200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:227288600-227299200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:227288600-227299200	Weak transcription	Aorta	Aorta
32	chr1:227288600-227299200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:227288600-227299400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:227288600-227299600	Weak transcription	Brain Anterior Caudate	brain
35	chr1:227288600-227310800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:227288600-227312200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:227288600-227313000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:227288600-227316000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:227288600-227328200	Weak transcription	Fetal Stomach	stomach
40	chr1:227288600-227332400	Weak transcription	NHLF	lung
41	chr1:227288600-227333600	Weak transcription	Esophagus	oesophagus
42	chr1:227288800-227299600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:227288800-227317200	Weak transcription	NHEK	skin
44	chr1:227288800-227330000	Weak transcription	NHDF-Ad	bronchial
45	chr1:227289000-227298800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:227289000-227312000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:227290200-227298800	Weak transcription	HepG2	liver
48	chr1:227290200-227299600	Weak transcription	Stomach Mucosa	stomach
49	chr1:227290200-227309800	Weak transcription	Fetal Intestine Small	intestine
50	chr1:227290400-227299200	Weak transcription	Fetal Intestine Large	intestine

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