Variant report

Variant	rs72727759
Chromosome Location	chr1:185663021-185663022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185655546..185657231-chr1:185661378..185664178,2	MCF-7	breast:
2	chr1:185650660..185654916-chr1:185660319..185663622,4	MCF-7	breast:
3	chr1:185650495..185652589-chr1:185660501..185663468,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11579889	0.83[EUR][1000 genomes]
rs11583092	0.83[EUR][1000 genomes]
rs11584252	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587852	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11589543	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358871	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484134	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484135	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1552281	0.83[EUR][1000 genomes]
rs16824390	0.84[EUR][1000 genomes]
rs16824396	0.83[EUR][1000 genomes]
rs17445778	0.83[EUR][1000 genomes]
rs2004324	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34923020	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41519044	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55993167	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56031313	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56238699	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57146145	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58708412	0.94[EUR][1000 genomes]
rs59197925	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59253277	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59702468	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60074235	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60376365	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61829644	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61831462	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61831464	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831470	0.85[EUR][1000 genomes]
rs61831480	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61831482	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61831483	0.83[EUR][1000 genomes]
rs61831485	0.80[EUR][1000 genomes]
rs61831486	0.83[EUR][1000 genomes]
rs61831502	0.83[EUR][1000 genomes]
rs61831503	0.83[EUR][1000 genomes]
rs61831504	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61831505	0.83[EUR][1000 genomes]
rs61831519	0.86[EUR][1000 genomes]
rs6656530	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668606	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668607	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692602	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534755	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538168	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7547022	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554903	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs900775	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9286857	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs936723	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs992760	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs994970	0.91[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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv947341	chr1:185651878-185664812	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185662600-185663400	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr1:185662600-185663800	ZNF genes & repeats	GM12878-XiMat	blood
3	chr1:185662600-185664000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:185662800-185663200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr1:185662800-185663200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:185662800-185663200	Flanking Active TSS	Liver	Liver
7	chr1:185662800-185663200	Enhancers	Brain Anterior Caudate	brain
8	chr1:185662800-185663200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr1:185662800-185663400	Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr1:185662800-185663400	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr1:185662800-185663600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:185662800-185663600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:185662800-185663600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr1:185662800-185663600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr1:185662800-185663600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:185662800-185663600	Active TSS	Right Atrium	heart
17	chr1:185662800-185663800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr1:185662800-185663800	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr1:185662800-185663800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr1:185662800-185663800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:185662800-185663800	Active TSS	Ovary	ovary
22	chr1:185662800-185664000	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr1:185663000-185663200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:185663000-185663200	Enhancers	Fetal Intestine Small	intestine
25	chr1:185663000-185663200	Enhancers	Small Intestine	intestine
26	chr1:185663000-185663200	Flanking Active TSS	Stomach Mucosa	stomach
27	chr1:185663000-185663400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:185663000-185663400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:185663000-185663400	Active TSS	Duodenum Mucosa	Duodenum
30	chr1:185663000-185663400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr1:185663000-185663400	Active TSS	Fetal Intestine Large	intestine
32	chr1:185663000-185663600	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr1:185663000-185663600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:185663000-185663600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr1:185663000-185663600	Active TSS	Adipose Nuclei	Adipose
36	chr1:185663000-185663600	Active TSS	Aorta	Aorta
37	chr1:185663000-185663600	Active TSS	Brain Hippocampus Middle	brain
38	chr1:185663000-185663600	Active TSS	Colonic Mucosa	Colon
39	chr1:185663000-185663600	Flanking Active TSS	Fetal Thymus	thymus
40	chr1:185663000-185663600	Active TSS	Pancreas	Pancrea
41	chr1:185663000-185663600	Active TSS	Psoas Muscle	Psoas
42	chr1:185663000-185663600	Active TSS	Rectal Smooth Muscle	rectum
43	chr1:185663000-185663600	Active TSS	Thymus	Thymus
44	chr1:185663000-185663600	Flanking Active TSS	HepG2	liver
45	chr1:185663000-185663600	Flanking Active TSS	HUVEC	blood vessel
46	chr1:185663000-185663600	Active TSS	K562	blood
47	chr1:185663000-185663600	Active TSS	Osteobl	bone
48	chr1:185663000-185663800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:185663000-185663800	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr1:185663000-185663800	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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