Variant report

Variant	rs12079983
Chromosome Location	chr1:180753850-180753851
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180745041..180748081-chr1:180751703..180755514,3	MCF-7	breast:
2	chr1:180750632..180752592-chr1:180753613..180756840,3	K562	blood:
3	chr1:180752587..180754098-chr1:180771744..180774694,2	K562	blood:

Extended variants
information (count: 186 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:163)

rs_ID	r²[population]
rs10914062	0.82[AFR][1000 genomes]
rs10914064	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs10914065	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs10914071	0.94[YRI][hapmap]
rs10914072	0.93[YRI][hapmap]
rs10914081	0.94[YRI][hapmap]
rs10914085	0.94[YRI][hapmap]
rs10914087	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs10914088	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs10914090	0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs10914091	0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs10914093	0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs10914098	0.87[AFR][1000 genomes]
rs10914101	0.87[AFR][1000 genomes]
rs10914102	0.87[AFR][1000 genomes]
rs10914103	0.87[AFR][1000 genomes]
rs10914105	0.87[AFR][1000 genomes]
rs10914106	0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs10914119	0.93[YRI][hapmap]
rs10914120	0.94[YRI][hapmap]
rs11484582	0.94[YRI][hapmap]
rs11484677	0.94[YRI][hapmap]
rs11487433	0.82[AFR][1000 genomes]
rs12058064	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12058106	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12059242	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs12059644	0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs12059678	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs12059686	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs12063893	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs12066418	0.87[AFR][1000 genomes]
rs12066422	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs12067061	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs12067934	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs12068624	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs12068720	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs12069405	0.82[AFR][1000 genomes]
rs12069760	0.93[YRI][hapmap]
rs12070064	0.93[YRI][hapmap]
rs12070161	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs12070595	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs12071498	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs12073086	0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs12073140	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs12075235	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs12075809	0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs12076888	0.94[YRI][hapmap]
rs12077123	0.83[AFR][1000 genomes]
rs12077610	0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs12078050	0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs12078652	1.00[YRI][hapmap]
rs12079208	0.93[YRI][hapmap]
rs12079923	0.87[AFR][1000 genomes]
rs12080210	0.87[AFR][1000 genomes]
rs12080611	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs12081201	0.94[YRI][hapmap]
rs12081764	0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs12082250	0.94[YRI][hapmap]
rs12082289	0.94[YRI][hapmap]
rs12082519	0.82[AFR][1000 genomes]
rs12084318	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs12084517	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs12084841	0.94[YRI][hapmap]
rs12086487	0.94[YRI][hapmap]
rs12087173	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs12087411	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs12087562	0.94[YRI][hapmap];0.80[AFR][1000 genomes]
rs12087806	0.82[AFR][1000 genomes]
rs12088419	0.93[YRI][hapmap]
rs12088425	0.94[YRI][hapmap]
rs12088430	0.93[YRI][hapmap]
rs12088431	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs12088485	0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs12089155	0.82[AFR][1000 genomes]
rs12089305	0.94[YRI][hapmap]
rs12089469	0.94[YRI][hapmap]
rs12090165	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs12090251	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs12090937	1.00[YRI][hapmap]
rs12091686	0.94[YRI][hapmap]
rs12092161	0.93[YRI][hapmap]
rs12092463	0.89[YRI][hapmap]
rs12092594	0.94[YRI][hapmap]
rs12093445	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs12093826	0.94[YRI][hapmap]
rs12094326	0.94[YRI][hapmap]
rs12095684	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs12097111	0.87[AFR][1000 genomes]
rs12097114	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs28396858	0.87[AFR][1000 genomes]
rs28860229	0.87[AFR][1000 genomes]
rs58365677	0.87[AFR][1000 genomes]
rs58414267	0.87[AFR][1000 genomes]
rs58845755	0.82[AFR][1000 genomes]
rs59013965	0.80[AFR][1000 genomes]
rs59084656	0.82[AFR][1000 genomes]
rs59543576	0.87[AFR][1000 genomes]
rs59741364	0.87[AFR][1000 genomes]
rs59929457	0.87[AFR][1000 genomes]
rs59952006	1.00[EUR][1000 genomes]
rs60653579	0.82[AFR][1000 genomes]
rs61530504	0.82[AFR][1000 genomes]
rs61742073	0.82[AFR][1000 genomes]
rs6425649	0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs6425650	0.82[AFR][1000 genomes]
rs6425653	0.87[AFR][1000 genomes]
rs6657287	0.87[AFR][1000 genomes]
rs6659121	0.94[YRI][hapmap]
rs6667050	0.84[AFR][1000 genomes]
rs6668077	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs6668578	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs6672886	0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs6672994	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs6675189	0.93[YRI][hapmap]
rs6675596	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs6679698	0.87[AFR][1000 genomes]
rs6681878	0.93[YRI][hapmap]
rs6682446	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs6682537	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs6686781	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs6686881	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs6687073	0.82[AFR][1000 genomes]
rs6692867	0.93[YRI][hapmap]
rs6693045	0.93[YRI][hapmap]
rs6693245	0.93[YRI][hapmap]
rs6697358	0.87[AFR][1000 genomes]
rs6698724	0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs73034723	0.87[AFR][1000 genomes]
rs73034725	0.87[AFR][1000 genomes]
rs73034733	0.84[AFR][1000 genomes]
rs73034735	0.82[AFR][1000 genomes]
rs73034738	0.84[AFR][1000 genomes]
rs73034884	0.82[AFR][1000 genomes]
rs73034888	0.82[AFR][1000 genomes]
rs73034894	0.82[AFR][1000 genomes]
rs73036516	0.82[AFR][1000 genomes]
rs73036523	0.84[AFR][1000 genomes]
rs73036537	0.84[AFR][1000 genomes]
rs73036574	0.87[AFR][1000 genomes]
rs73036576	0.87[AFR][1000 genomes]
rs73040975	0.87[AFR][1000 genomes]
rs73042705	0.87[AFR][1000 genomes]
rs73042707	0.87[AFR][1000 genomes]
rs73042714	0.87[AFR][1000 genomes]
rs73044538	0.82[AFR][1000 genomes]
rs73044549	0.82[AFR][1000 genomes]
rs73049489	0.82[AFR][1000 genomes]
rs73051221	0.82[AFR][1000 genomes]
rs7512042	0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs7513368	0.94[YRI][hapmap]
rs7517852	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs7522212	0.94[YRI][hapmap]
rs7522604	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs7525801	0.94[YRI][hapmap]
rs7527018	0.82[AFR][1000 genomes]
rs7527074	0.87[YRI][hapmap]
rs7533479	0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs7533512	0.84[AFR][1000 genomes]
rs7542521	0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs7545150	0.94[YRI][hapmap]
rs7549787	0.94[YRI][hapmap]
rs7550955	0.82[AFR][1000 genomes]
rs9730482	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv3777	chr1:180741213-180780313	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv548346	chr1:180747033-180755321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3492942	chr1:180748679-180756477	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3492947	chr1:180749054-180756402	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3492945	chr1:180749543-180756750	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3492946	chr1:180749637-180755448	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3452584	chr1:180749640-180755552	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3492943	chr1:180749676-180755458	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3492944	chr1:180749764-180755403	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv498695	chr1:180749768-180755398	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3452585	chr1:180749769-180755398	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3492948	chr1:180749769-180755398	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv20795	chr1:180750406-180755506	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv548347	chr1:180750481-180754933	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv548348	chr1:180750481-180755259	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv548349	chr1:180750481-180755321	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv548350	chr1:180750701-180755188	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv548351	chr1:180750701-180755321	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv548352	chr1:180751409-180755259	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv548353	chr1:180751409-180755321	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv548354	chr1:180751636-180755321	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv548355	chr1:180752625-180755321	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180713000-180814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:180740200-180761000	Weak transcription	Psoas Muscle	Psoas
3	chr1:180740800-180775600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:180741000-180757200	Weak transcription	Primary B cells from cord blood	blood
5	chr1:180741600-180784000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:180743400-180757200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:180743400-180763000	Weak transcription	HSMM	muscle
8	chr1:180744000-180757200	Weak transcription	Primary T cells from cord blood	blood
9	chr1:180747000-180756800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:180747800-180761000	Weak transcription	Aorta	Aorta
11	chr1:180748200-180755800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:180749400-180761200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:180749600-180761200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:180751400-180774600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:180751800-180754000	Weak transcription	Fetal Brain Male	brain
16	chr1:180751800-180755000	Weak transcription	Fetal Brain Female	brain
17	chr1:180753000-180756600	Weak transcription	Left Ventricle	heart
18	chr1:180753200-180754000	Weak transcription	Small Intestine	intestine
19	chr1:180753200-180754200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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