Variant report

Variant	rs73051258
Chromosome Location	chr1:180662856-180662857
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	chr1:180657321..180662997-chr1:180672435..180676141,5	K562	blood:

Extended variants
information (count: 295 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:291)

rs_ID	r²[population]
rs10399718	0.85[AMR][1000 genomes]
rs10399804	0.85[AMR][1000 genomes]
rs10399869	0.85[AMR][1000 genomes]
rs10914062	0.85[AMR][1000 genomes]
rs10914063	0.85[AMR][1000 genomes]
rs10914064	0.85[AMR][1000 genomes]
rs10914065	0.85[AMR][1000 genomes]
rs10914069	0.85[AMR][1000 genomes]
rs10914070	0.85[AMR][1000 genomes]
rs10914071	0.85[AMR][1000 genomes]
rs10914072	0.85[AMR][1000 genomes]
rs10914073	0.85[AMR][1000 genomes]
rs10914081	0.85[AMR][1000 genomes]
rs10914082	0.85[AMR][1000 genomes]
rs10914085	0.85[AMR][1000 genomes]
rs10914087	0.85[AMR][1000 genomes]
rs10914088	0.85[AMR][1000 genomes]
rs10914090	0.85[AMR][1000 genomes]
rs10914091	0.85[AMR][1000 genomes]
rs10914093	0.85[AMR][1000 genomes]
rs10914098	0.85[AMR][1000 genomes]
rs10914101	0.85[AMR][1000 genomes]
rs10914102	0.85[AMR][1000 genomes]
rs10914103	0.85[AMR][1000 genomes]
rs10914105	0.85[AMR][1000 genomes]
rs10914106	0.85[AMR][1000 genomes]
rs10914119	0.85[AMR][1000 genomes]
rs10914120	0.85[AMR][1000 genomes]
rs10914121	0.85[AMR][1000 genomes]
rs11484582	0.85[AMR][1000 genomes]
rs11484677	0.85[AMR][1000 genomes]
rs11487433	0.85[AMR][1000 genomes]
rs12058064	0.85[AMR][1000 genomes]
rs12058106	0.85[AMR][1000 genomes]
rs12059242	0.85[AMR][1000 genomes]
rs12059644	0.85[AMR][1000 genomes]
rs12059678	0.85[AMR][1000 genomes]
rs12059686	0.85[AMR][1000 genomes]
rs12060123	0.85[AMR][1000 genomes]
rs12063354	0.85[AMR][1000 genomes]
rs12063893	0.85[AMR][1000 genomes]
rs12065537	0.85[AMR][1000 genomes]
rs12066418	0.85[AMR][1000 genomes]
rs12066422	0.85[AMR][1000 genomes]
rs12067061	0.85[AMR][1000 genomes]
rs12067633	0.85[AMR][1000 genomes]
rs12067934	0.85[AMR][1000 genomes]
rs12068624	0.85[AMR][1000 genomes]
rs12068720	0.85[AMR][1000 genomes]
rs12069405	0.85[AMR][1000 genomes]
rs12069760	0.85[AMR][1000 genomes]
rs12070064	0.85[AMR][1000 genomes]
rs12070161	0.85[AMR][1000 genomes]
rs12070595	0.85[AMR][1000 genomes]
rs12071498	0.85[AMR][1000 genomes]
rs12073086	0.85[AMR][1000 genomes]
rs12073140	0.85[AMR][1000 genomes]
rs12073289	0.85[AMR][1000 genomes]
rs12075235	0.85[AMR][1000 genomes]
rs12075809	0.85[AMR][1000 genomes]
rs12076634	0.85[AMR][1000 genomes]
rs12076809	0.85[AMR][1000 genomes]
rs12076875	0.85[AMR][1000 genomes]
rs12076888	0.85[AMR][1000 genomes]
rs12076958	0.85[AMR][1000 genomes]
rs12077610	0.85[AMR][1000 genomes]
rs12078050	0.85[AMR][1000 genomes]
rs12078652	0.85[AMR][1000 genomes]
rs12079208	0.85[AMR][1000 genomes]
rs12079213	0.85[AMR][1000 genomes]
rs12079923	0.85[AMR][1000 genomes]
rs12080210	0.85[AMR][1000 genomes]
rs12080481	0.85[AMR][1000 genomes]
rs12080611	0.85[AMR][1000 genomes]
rs12080816	0.85[AMR][1000 genomes]
rs12080899	0.85[AMR][1000 genomes]
rs12081201	0.85[AMR][1000 genomes]
rs12081764	0.85[AMR][1000 genomes]
rs12081846	0.85[AMR][1000 genomes]
rs12082250	0.85[AMR][1000 genomes]
rs12082289	0.85[AMR][1000 genomes]
rs12082519	0.85[AMR][1000 genomes]
rs12082726	0.85[AMR][1000 genomes]
rs12084318	0.85[AMR][1000 genomes]
rs12084517	0.85[AMR][1000 genomes]
rs12084841	0.85[AMR][1000 genomes]
rs12086487	0.85[AMR][1000 genomes]
rs12087173	0.85[AMR][1000 genomes]
rs12087411	0.85[AMR][1000 genomes]
rs12087562	0.85[AMR][1000 genomes]
rs12087806	0.85[AMR][1000 genomes]
rs12088419	0.85[AMR][1000 genomes]
rs12088425	0.85[AMR][1000 genomes]
rs12088430	0.85[AMR][1000 genomes]
rs12088431	0.85[AMR][1000 genomes]
rs12088485	0.85[AMR][1000 genomes]
rs12088750	0.85[AMR][1000 genomes]
rs12088908	0.85[AMR][1000 genomes]
rs12089155	0.85[AMR][1000 genomes]
rs12089305	0.85[AMR][1000 genomes]
rs12090165	0.85[AMR][1000 genomes]
rs12090251	0.85[AMR][1000 genomes]
rs12090937	0.85[AMR][1000 genomes]
rs12092161	0.85[AMR][1000 genomes]
rs12092594	0.85[AMR][1000 genomes]
rs12093445	0.85[AMR][1000 genomes]
rs12093826	0.85[AMR][1000 genomes]
rs12094326	0.85[AMR][1000 genomes]
rs12095684	0.85[AMR][1000 genomes]
rs12097111	0.85[AMR][1000 genomes]
rs12097114	0.85[AMR][1000 genomes]
rs12097443	0.85[AMR][1000 genomes]
rs12097831	0.85[AMR][1000 genomes]
rs28396858	0.85[AMR][1000 genomes]
rs28772709	0.85[AMR][1000 genomes]
rs28860229	0.85[AMR][1000 genomes]
rs57032990	0.85[AMR][1000 genomes]
rs57514172	0.85[AMR][1000 genomes]
rs57581991	0.85[AMR][1000 genomes]
rs57893270	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58078052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58365677	0.85[AMR][1000 genomes]
rs58414267	0.85[AMR][1000 genomes]
rs58438796	0.85[AMR][1000 genomes]
rs58688129	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58826347	0.85[AMR][1000 genomes]
rs58845755	0.85[AMR][1000 genomes]
rs58917243	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58925572	0.85[AMR][1000 genomes]
rs58976920	0.85[AMR][1000 genomes]
rs59013965	0.85[AMR][1000 genomes]
rs59071173	0.85[AMR][1000 genomes]
rs59084656	0.85[AMR][1000 genomes]
rs59197802	0.85[AMR][1000 genomes]
rs59451280	0.85[AMR][1000 genomes]
rs59543576	0.85[AMR][1000 genomes]
rs59741364	0.85[AMR][1000 genomes]
rs59921476	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59929457	0.85[AMR][1000 genomes]
rs60159602	0.85[AMR][1000 genomes]
rs60280211	0.85[AMR][1000 genomes]
rs60290602	0.85[AMR][1000 genomes]
rs60396352	0.85[AMR][1000 genomes]
rs60653579	0.85[AMR][1000 genomes]
rs60823702	1.00[AMR][1000 genomes]
rs61038985	0.85[AMR][1000 genomes]
rs61058506	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61213326	0.85[AMR][1000 genomes]
rs61530504	0.85[AMR][1000 genomes]
rs61742073	0.85[AMR][1000 genomes]
rs6425649	0.85[AMR][1000 genomes]
rs6425650	0.85[AMR][1000 genomes]
rs6425651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6425653	0.85[AMR][1000 genomes]
rs6425654	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6657287	0.85[AMR][1000 genomes]
rs6659262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6667050	0.85[AMR][1000 genomes]
rs6668077	0.85[AMR][1000 genomes]
rs6668578	0.85[AMR][1000 genomes]
rs6671456	0.85[AMR][1000 genomes]
rs6671987	0.85[AMR][1000 genomes]
rs6672886	0.85[AMR][1000 genomes]
rs6672994	0.85[AMR][1000 genomes]
rs6675189	0.85[AMR][1000 genomes]
rs6675596	0.85[AMR][1000 genomes]
rs6679698	0.85[AMR][1000 genomes]
rs6679725	0.85[AMR][1000 genomes]
rs6681878	0.85[AMR][1000 genomes]
rs6682446	0.85[AMR][1000 genomes]
rs6682537	0.85[AMR][1000 genomes]
rs6686781	0.85[AMR][1000 genomes]
rs6686881	0.85[AMR][1000 genomes]
rs6687073	0.85[AMR][1000 genomes]
rs6688066	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6688797	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692867	0.85[AMR][1000 genomes]
rs6693045	0.85[AMR][1000 genomes]
rs6693245	0.85[AMR][1000 genomes]
rs6694620	0.85[AMR][1000 genomes]
rs6697358	0.85[AMR][1000 genomes]
rs6698724	0.85[AMR][1000 genomes]
rs6704318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034723	0.85[AMR][1000 genomes]
rs73034725	0.85[AMR][1000 genomes]
rs73034733	0.85[AMR][1000 genomes]
rs73034735	0.85[AMR][1000 genomes]
rs73034738	0.85[AMR][1000 genomes]
rs73034820	0.85[AMR][1000 genomes]
rs73034824	0.85[AMR][1000 genomes]
rs73034834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034844	0.85[AMR][1000 genomes]
rs73034846	0.85[AMR][1000 genomes]
rs73034849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034850	0.85[AMR][1000 genomes]
rs73034852	0.85[AMR][1000 genomes]
rs73034855	0.85[AMR][1000 genomes]
rs73034858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034861	1.00[AMR][1000 genomes]
rs73034864	0.85[AMR][1000 genomes]
rs73034870	0.85[AMR][1000 genomes]
rs73034874	0.85[AMR][1000 genomes]
rs73034877	0.85[AMR][1000 genomes]
rs73034880	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034884	0.85[AMR][1000 genomes]
rs73034888	0.85[AMR][1000 genomes]
rs73034891	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73034894	0.85[AMR][1000 genomes]
rs73034895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036516	0.85[AMR][1000 genomes]
rs73036523	0.85[AMR][1000 genomes]
rs73036537	0.85[AMR][1000 genomes]
rs73036574	0.85[AMR][1000 genomes]
rs73036576	0.85[AMR][1000 genomes]
rs73040964	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040975	0.85[AMR][1000 genomes]
rs73040979	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042705	0.85[AMR][1000 genomes]
rs73042707	0.85[AMR][1000 genomes]
rs73042709	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042714	0.85[AMR][1000 genomes]
rs73044538	0.85[AMR][1000 genomes]
rs73044549	0.85[AMR][1000 genomes]
rs73044553	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73044557	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73044560	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73044571	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73044573	0.85[AMR][1000 genomes]
rs73045791	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73045793	0.85[AMR][1000 genomes]
rs73045794	0.85[AMR][1000 genomes]
rs73045796	0.85[AMR][1000 genomes]
rs73047677	0.85[AMR][1000 genomes]
rs73047679	0.85[AMR][1000 genomes]
rs73047683	1.00[AMR][1000 genomes]
rs73047689	0.85[AMR][1000 genomes]
rs73047690	0.85[AMR][1000 genomes]
rs73047691	0.85[AMR][1000 genomes]
rs73047693	1.00[AMR][1000 genomes]
rs73047696	0.85[AMR][1000 genomes]
rs73047697	0.85[AMR][1000 genomes]
rs73047699	0.85[AMR][1000 genomes]
rs73047700	0.85[AMR][1000 genomes]
rs73049462	0.85[AMR][1000 genomes]
rs73049463	0.85[AMR][1000 genomes]
rs73049466	0.85[AMR][1000 genomes]
rs73049468	0.85[AMR][1000 genomes]
rs73049473	1.00[AMR][1000 genomes]
rs73049477	0.85[AMR][1000 genomes]
rs73049479	1.00[AMR][1000 genomes]
rs73049489	0.85[AMR][1000 genomes]
rs73049494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73049495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73049502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73051221	0.85[AMR][1000 genomes]
rs73051223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73051228	0.85[AMR][1000 genomes]
rs73051230	0.85[AMR][1000 genomes]
rs73051232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73051245	0.85[AMR][1000 genomes]
rs73051247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73051257	0.85[AMR][1000 genomes]
rs7512042	0.85[AMR][1000 genomes]
rs7513368	0.85[AMR][1000 genomes]
rs7513630	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7517852	0.85[AMR][1000 genomes]
rs7522212	0.85[AMR][1000 genomes]
rs7522604	0.85[AMR][1000 genomes]
rs7523694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7525801	0.85[AMR][1000 genomes]
rs7526917	0.85[AMR][1000 genomes]
rs7527018	0.85[AMR][1000 genomes]
rs7527074	0.85[AMR][1000 genomes]
rs7528848	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7528955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7531674	0.85[AMR][1000 genomes]
rs7533479	0.85[AMR][1000 genomes]
rs7536352	0.85[AMR][1000 genomes]
rs7537396	0.85[AMR][1000 genomes]
rs7542521	0.85[AMR][1000 genomes]
rs7545150	0.85[AMR][1000 genomes]
rs7549787	0.85[AMR][1000 genomes]
rs7550955	0.85[AMR][1000 genomes]
rs9730482	0.85[AMR][1000 genomes]
rs9919230	0.85[AMR][1000 genomes]
rs9919245	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2754432	chr1:180645343-180692343	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180633200-180672000	Weak transcription	K562	blood
2	chr1:180644000-180663800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:180648000-180663800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:180649000-180666200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:180650200-180665600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:180650200-180669800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:180652000-180672400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:180660800-180664200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:180661000-180663200	Weak transcription	Aorta	Aorta
10	chr1:180661200-180663200	Weak transcription	A549	lung
11	chr1:180661400-180663000	Enhancers	Primary T cells from cord blood	blood
12	chr1:180661400-180663200	Weak transcription	Right Ventricle	heart
13	chr1:180661400-180665400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:180662200-180663000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:180662200-180663000	Enhancers	Fetal Heart	heart
16	chr1:180662200-180664400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:180662600-180663400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:180662600-180663600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:180662600-180663800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:180662600-180664000	Enhancers	Left Ventricle	heart
21	chr1:180662600-180664400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:180662800-180663400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:180662800-180663400	Enhancers	Psoas Muscle	Psoas

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