Variant report

Variant	rs59992966
Chromosome Location	chr1:155356239-155356240
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155349409..155351647-chr1:155355555..155357785,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10158037	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10158433	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10465954	0.81[AFR][1000 genomes]
rs13375379	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836851	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836867	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28438500	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28491466	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28507559	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56035547	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56770523	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57134822	0.87[AFR][1000 genomes]
rs57334798	0.85[AFR][1000 genomes]
rs57519519	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57807227	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58471239	0.81[AFR][1000 genomes]
rs58621120	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58647953	0.84[AFR][1000 genomes]
rs58850753	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59633238	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59815288	1.00[AMR][1000 genomes]
rs60568057	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60818259	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61403978	0.85[AFR][1000 genomes]
rs61631408	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6658401	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6659913	0.90[AFR][1000 genomes]
rs6665660	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665939	1.00[AMR][1000 genomes]
rs6669216	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6670530	0.80[AFR][1000 genomes]
rs6671191	0.80[AFR][1000 genomes]
rs6692952	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72993428	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995115	0.82[AFR][1000 genomes]
rs72995140	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995177	0.82[AFR][1000 genomes]
rs73008931	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008968	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008999	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010906	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010909	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010921	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7517139	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7517777	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532714	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7541017	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9988453	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
4	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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 miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv1795478	chr1:155334933-155510824	Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv1803551	chr1:155334933-155522572	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv872467	chr1:155345641-155377171	Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155297800-155357400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:155306200-155375400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:155312400-155407400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:155330200-155362400	Weak transcription	Stomach Mucosa	stomach
5	chr1:155340600-155361200	Weak transcription	Fetal Heart	heart
6	chr1:155340600-155362600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:155340600-155364200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:155340800-155357600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:155340800-155361800	Weak transcription	Right Ventricle	heart
10	chr1:155340800-155364800	Weak transcription	Small Intestine	intestine
11	chr1:155345600-155403000	Weak transcription	Esophagus	oesophagus
12	chr1:155346000-155358000	Weak transcription	Pancreas	Pancrea
13	chr1:155346200-155357600	Weak transcription	Fetal Brain Male	brain
14	chr1:155346400-155357800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:155347400-155361000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:155347400-155364000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:155347400-155407400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:155347600-155358000	Weak transcription	Lung	lung
19	chr1:155347600-155368400	Weak transcription	Colonic Mucosa	Colon
20	chr1:155347600-155376000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:155348000-155357000	Weak transcription	Fetal Brain Female	brain
22	chr1:155348200-155356400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:155348200-155357000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:155348200-155357000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:155348200-155357000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:155348200-155358000	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:155348200-155360800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:155348200-155362800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:155348200-155373800	Weak transcription	Spleen	Spleen
30	chr1:155348200-155380800	Weak transcription	HMEC	breast
31	chr1:155348200-155386000	Weak transcription	NHEK	skin
32	chr1:155348400-155356600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:155348400-155357600	Weak transcription	HSMMtube	muscle
34	chr1:155348600-155363600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:155348800-155357600	Weak transcription	K562	blood
36	chr1:155348800-155361800	Weak transcription	Psoas Muscle	Psoas
37	chr1:155349000-155356400	Weak transcription	Hela-S3	cervix
38	chr1:155349400-155407600	Weak transcription	Aorta	Aorta
39	chr1:155349600-155357200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:155349800-155357200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:155349800-155362400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:155349800-155364600	Weak transcription	HepG2	liver
43	chr1:155349800-155390800	Weak transcription	Brain Anterior Caudate	brain
44	chr1:155349800-155403000	Weak transcription	NHLF	lung
45	chr1:155350000-155356600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:155350000-155357200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:155350000-155357200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:155350000-155357200	Weak transcription	Fetal Kidney	kidney
49	chr1:155350000-155357400	Weak transcription	NHDF-Ad	bronchial
50	chr1:155350000-155357800	Weak transcription	Ovary	ovary

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