Variant report

Variant	rs1028145
Chromosome Location	chr2:51928042-51928043
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:57919582..57921747-chr2:51927078..51928640,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10182761	0.85[EUR][1000 genomes]
rs1028146	0.80[EUR][1000 genomes]
rs11691890	0.80[ASN][1000 genomes]
rs1356213	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1516179	0.88[EUR][1000 genomes]
rs1516180	0.84[EUR][1000 genomes]
rs1516187	0.88[EUR][1000 genomes]
rs2048848	0.80[ASN][1000 genomes]
rs4353689	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4971757	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9973354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001552	chr2:51225970-52139741	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv535708	chr2:51225970-52139741	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv874069	chr2:51723107-52006583	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1011738	chr2:51731251-51976068	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv874072	chr2:51883456-51928042	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1009513	chr2:51890060-52821980	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv874073	chr2:51906097-51928042	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv874074	chr2:51906097-51930030	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv874075	chr2:51909753-51930030	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv581893	chr2:51914354-51928042	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv874076	chr2:51914354-51930030	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv516396	chr2:51914354-51934748	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv874077	chr2:51914354-51934748	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1008696	chr2:51920617-51949532	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv511161	chr2:51921531-51928042	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv1829094	chr2:51922567-51928042	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv1829908	chr2:51922567-51928042	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv1831107	chr2:51922567-51928042	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv1832391	chr2:51922567-51928042	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv2830092	chr2:51922567-51928042	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv1828644	chr2:51922567-51930030	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv581899	chr2:51922567-51930030	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv1832597	chr2:51922567-51934748	Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv581900	chr2:51922567-51934748	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv874078	chr2:51922567-51934748	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv511785	chr2:51926337-51928251	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv1829917	chr2:51926461-51928042	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv9757	chr2:51926546-51928442	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv1803173	chr2:51926599-51928042	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv1826088	chr2:51926599-51928042	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv1826336	chr2:51926599-51928042	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
32	esv1827452	chr2:51926599-51928042	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
33	esv1832329	chr2:51926599-51928042	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
34	esv1833315	chr2:51926599-51928042	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv581906	chr2:51926599-51928042	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
36	esv1828040	chr2:51926599-51928206	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv581907	chr2:51926599-51930030	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
38	esv1832378	chr2:51926599-51934748	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv581908	chr2:51926599-51934748	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
40	esv1793616	chr2:51926599-51935326	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
41	nsv581909	chr2:51926599-51935797	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
42	esv2830108	chr2:51926643-51928042	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
43	nsv581912	chr2:51926643-51928042	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1028145	KLRAQ1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51927800-51930400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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