Variant report

Variant	rs73063529
Chromosome Location	chr1:184412047-184412048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184355424..184358293-chr1:184409856..184412103,2	MCF-7	breast:
2	chr1:184410703..184412418-chr1:184418970..184420642,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116667	Chromatin interaction
ENSG00000271387	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
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]
rs2224030	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]
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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184383800-184412400	Weak transcription	Fetal Stomach	stomach
2	chr1:184390600-184422400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:184396000-184412800	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:184396200-184412800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:184396200-184418800	Weak transcription	NHEK	skin
6	chr1:184396200-184419000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:184396400-184430000	Weak transcription	Spleen	Spleen
8	chr1:184398800-184418800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:184400400-184412800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:184402600-184417400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:184403000-184423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:184404800-184412800	Weak transcription	Left Ventricle	heart
13	chr1:184406000-184422200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:184406400-184412200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:184407800-184412800	Weak transcription	Psoas Muscle	Psoas
16	chr1:184407800-184419000	Weak transcription	Right Ventricle	heart
17	chr1:184408000-184412400	Weak transcription	Right Atrium	heart
18	chr1:184408600-184421200	Weak transcription	Stomach Mucosa	stomach
19	chr1:184410000-184413000	Enhancers	Fetal Intestine Large	intestine
20	chr1:184410200-184413000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr1:184410400-184412400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr1:184410600-184413000	Enhancers	Duodenum Mucosa	Duodenum
23	chr1:184410600-184413000	Enhancers	Fetal Intestine Small	intestine
24	chr1:184410600-184422000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:184410800-184412200	Weak transcription	Fetal Lung	lung
26	chr1:184411200-184413200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:184411200-184413200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:184411400-184413200	Enhancers	Fetal Heart	heart
29	chr1:184411600-184413000	Enhancers	Stomach Smooth Muscle	stomach
30	chr1:184411800-184412200	Weak transcription	Small Intestine	intestine
31	chr1:184412000-184413000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr1:184412000-184413000	Enhancers	Rectal Smooth Muscle	rectum
33	chr1:184412000-184413200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr1:184412000-184414400	Enhancers	Skeletal Muscle Female	skeletal muscle

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