Variant report

Variant	rs11584252
Chromosome Location	chr1:185663679-185663680
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	chr1:185655546..185657231-chr1:185661378..185664178,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10489707	1.00[JPT][hapmap]
rs11579889	0.83[EUR][1000 genomes]
rs11583092	0.83[EUR][1000 genomes]
rs11583867	1.00[CHB][hapmap]
rs11587852	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11589543	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12079064	1.00[CHB][hapmap]
rs12087032	1.00[CHB][hapmap]
rs1322359	1.00[CHB][hapmap]
rs1358871	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1407430	1.00[CHB][hapmap]
rs1407431	1.00[CHB][hapmap]
rs1484134	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484135	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1552281	0.84[EUR][1000 genomes]
rs16824390	0.85[EUR][1000 genomes]
rs16824396	0.84[EUR][1000 genomes]
rs17445778	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs17446906	1.00[CHB][hapmap]
rs17448216	1.00[CHB][hapmap]
rs17448230	1.00[CHB][hapmap]
rs1951517	1.00[CHB][hapmap]
rs2004324	0.94[EUR][1000 genomes]
rs2170859	1.00[CHB][hapmap]
rs34923020	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35425624	1.00[CHB][hapmap]
rs41357745	1.00[CHB][hapmap]
rs41519044	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55993167	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56031313	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56238699	0.94[EUR][1000 genomes]
rs57146145	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58708412	0.94[EUR][1000 genomes]
rs59197925	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59253277	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59702468	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60074235	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60376365	0.94[EUR][1000 genomes]
rs61829644	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61831462	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61831464	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831470	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61831480	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61831482	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61831483	0.83[EUR][1000 genomes]
rs61831485	0.81[EUR][1000 genomes]
rs61831486	0.83[EUR][1000 genomes]
rs61831502	0.83[EUR][1000 genomes]
rs61831503	0.83[EUR][1000 genomes]
rs61831504	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61831505	0.83[EUR][1000 genomes]
rs61831519	0.87[EUR][1000 genomes]
rs61831521	0.80[EUR][1000 genomes]
rs6656530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668606	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668607	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692602	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727759	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534755	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538168	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7547022	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554903	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs900775	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs9286857	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs936723	0.94[EUR][1000 genomes]
rs9628625	1.00[CHB][hapmap]
rs992760	0.94[EUR][1000 genomes]
rs994970	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185662600-185663800	ZNF genes & repeats	GM12878-XiMat	blood
2	chr1:185662600-185664000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:185662800-185663800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr1:185662800-185663800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr1:185662800-185663800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr1:185662800-185663800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:185662800-185663800	Active TSS	Ovary	ovary
8	chr1:185662800-185664000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr1:185663000-185663800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:185663000-185663800	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr1:185663000-185663800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr1:185663000-185663800	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr1:185663000-185663800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr1:185663000-185663800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:185663000-185663800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr1:185663000-185663800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr1:185663000-185663800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:185663200-185663800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr1:185663200-185663800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:185663200-185663800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:185663200-185663800	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr1:185663200-185664200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:185663400-185664000	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr1:185663400-185664400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:185663600-185663800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:185663600-185663800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:185663600-185663800	Flanking Active TSS	Liver	Liver
28	chr1:185663600-185663800	Enhancers	Fetal Thymus	thymus
29	chr1:185663600-185663800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr1:185663600-185663800	Flanking Active TSS	Stomach Mucosa	stomach
31	chr1:185663600-185664000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr1:185663600-185664000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr1:185663600-185664000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:185663600-185664000	Enhancers	Fetal Intestine Large	intestine
35	chr1:185663600-185664000	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr1:185663600-185664000	Enhancers	HepG2	liver
37	chr1:185663600-185664000	Enhancers	HUVEC	blood vessel
38	chr1:185663600-185664200	Enhancers	Primary B cells from peripheral blood	blood
39	chr1:185663600-185664200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr1:185663600-185664200	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr1:185663600-185664400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:185663600-185665000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr1:185663600-185668800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:185663600-185669000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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