Variant report

Variant	rs2224030
Chromosome Location	chr1:184416347-184416348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184416154..184418161-chr1:184421571..184424535,3	MCF-7	breast:
2	chr1:184409895..184411930-chr1:184415037..184417924,2	MCF-7	breast:
3	chr1:184408982..184410504-chr1:184414765..184417443,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10489728	1.00[MEX][hapmap]
rs10494579	1.00[EUR][1000 genomes]
rs10911542	1.00[EUR][1000 genomes]
rs10911543	1.00[EUR][1000 genomes]
rs1111087	1.00[EUR][1000 genomes]
rs12066684	1.00[EUR][1000 genomes]
rs12072264	1.00[EUR][1000 genomes]
rs12076686	1.00[EUR][1000 genomes]
rs12076687	1.00[EUR][1000 genomes]
rs12095050	1.00[EUR][1000 genomes]
rs13328702	1.00[EUR][1000 genomes]
rs13375618	1.00[EUR][1000 genomes]
rs16822757	1.00[EUR][1000 genomes]
rs16822764	1.00[EUR][1000 genomes]
rs16822766	1.00[EUR][1000 genomes]
rs16822783	1.00[EUR][1000 genomes]
rs16822793	1.00[EUR][1000 genomes]
rs16823189	1.00[EUR][1000 genomes]
rs16823192	1.00[EUR][1000 genomes]
rs16823216	1.00[EUR][1000 genomes]
rs1930289	1.00[EUR][1000 genomes]
rs4354502	1.00[EUR][1000 genomes]
rs4543760	1.00[EUR][1000 genomes]
rs56707979	1.00[EUR][1000 genomes]
rs56797986	1.00[EUR][1000 genomes]
rs58307611	1.00[EUR][1000 genomes]
rs59737381	1.00[EUR][1000 genomes]
rs59949779	1.00[EUR][1000 genomes]
rs60807093	1.00[EUR][1000 genomes]
rs6667688	1.00[EUR][1000 genomes]
rs6668105	1.00[EUR][1000 genomes]
rs6669875	1.00[EUR][1000 genomes]
rs6670740	1.00[EUR][1000 genomes]
rs6694683	1.00[EUR][1000 genomes]
rs73046716	1.00[EUR][1000 genomes]
rs73046783	1.00[EUR][1000 genomes]
rs73046796	1.00[EUR][1000 genomes]
rs73059524	1.00[EUR][1000 genomes]
rs73059529	1.00[EUR][1000 genomes]
rs73059544	1.00[EUR][1000 genomes]
rs73063511	1.00[EUR][1000 genomes]
rs73063520	1.00[EUR][1000 genomes]
rs73063529	1.00[EUR][1000 genomes]
rs73063555	1.00[EUR][1000 genomes]
rs74131644	1.00[EUR][1000 genomes]
rs74131649	1.00[EUR][1000 genomes]
rs74131651	1.00[EUR][1000 genomes]
rs74131665	1.00[EUR][1000 genomes]
rs74131666	1.00[EUR][1000 genomes]
rs74131668	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184390600-184422400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:184396200-184418800	Weak transcription	NHEK	skin
3	chr1:184396200-184419000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:184396400-184430000	Weak transcription	Spleen	Spleen
5	chr1:184398800-184418800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:184402600-184417400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:184403000-184423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:184406000-184422200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:184407800-184419000	Weak transcription	Right Ventricle	heart
10	chr1:184408600-184421200	Weak transcription	Stomach Mucosa	stomach
11	chr1:184410600-184422000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:184412800-184430200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:184413000-184420800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:184413000-184426600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:184413000-184429600	Weak transcription	Brain Angular Gyrus	brain
16	chr1:184413200-184417400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:184413200-184418800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:184413200-184419000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:184413200-184419200	Weak transcription	Left Ventricle	heart
20	chr1:184413200-184419200	Weak transcription	Right Atrium	heart
21	chr1:184413200-184422000	Weak transcription	Fetal Stomach	stomach
22	chr1:184413200-184424800	Weak transcription	Fetal Heart	heart
23	chr1:184413200-184430000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:184413800-184417600	Weak transcription	Psoas Muscle	Psoas
25	chr1:184414400-184418800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:184414400-184419000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:184415400-184419200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:184416000-184417800	Enhancers	Placenta	Placenta

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