Variant report

Variant	rs12191941
Chromosome Location	chr6:48938399-48938400
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	chr6:48930520..48932119-chr6:48937053..48938837,2	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10456611	0.80[AMR][1000 genomes]
rs10456614	0.83[EUR][1000 genomes]
rs10456615	0.84[AMR][1000 genomes]
rs10948466	0.83[EUR][1000 genomes]
rs10948467	0.83[AMR][1000 genomes]
rs12154194	0.83[EUR][1000 genomes]
rs12191723	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196951	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198713	0.84[AMR][1000 genomes]
rs12199437	0.84[AMR][1000 genomes]
rs12200323	0.84[AMR][1000 genomes]
rs12204534	0.80[AMR][1000 genomes]
rs12205727	0.82[AMR][1000 genomes]
rs12207213	0.84[AMR][1000 genomes]
rs12211304	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12213551	0.86[AMR][1000 genomes]
rs12215635	0.85[AMR][1000 genomes]
rs13204786	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574802	0.82[AMR][1000 genomes]
rs2179180	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2205868	0.80[AMR][1000 genomes]
rs2396893	0.84[AMR][1000 genomes]
rs35059425	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4425594	0.86[AMR][1000 genomes]
rs4489145	0.83[AMR][1000 genomes]
rs4711923	0.84[AMR][1000 genomes]
rs4715118	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62412793	0.84[AMR][1000 genomes]
rs62412794	0.84[AMR][1000 genomes]
rs6458638	0.83[EUR][1000 genomes]
rs6903814	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6906485	0.85[AMR][1000 genomes]
rs7753035	0.82[AMR][1000 genomes]
rs9395433	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949690	chr6:48595821-49289855	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv603037	chr6:48804862-48995221	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv603038	chr6:48928544-48938399	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv603039	chr6:48928544-48942969	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3486533	chr6:48928827-48938933	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3514847	chr6:48929843-48939641	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv5293	chr6:48930102-48942492	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv436519	chr6:48930207-48939735	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3514848	chr6:48930243-48939566	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv9681	chr6:48930724-48938727	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3472550	chr6:48930809-48938641	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3514853	chr6:48930838-48938656	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3514849	chr6:48930845-48938645	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3514850	chr6:48930855-48938582	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3472549	chr6:48930865-48938607	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3472553	chr6:48930875-48938608	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv18961	chr6:48930877-48938505	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3514851	chr6:48930883-48938595	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3486534	chr6:48930887-48938583	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv823685	chr6:48930893-48938493	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3472548	chr6:48930896-48938565	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv3472551	chr6:48930931-48938539	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv3514846	chr6:48930942-48938537	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv3472554	chr6:48930946-48938535	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv3486535	chr6:48930946-48938535	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv3514854	chr6:48930946-48938535	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv603046	chr6:48931959-48938399	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
28	nsv603047	chr6:48931959-48942969	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
29	nsv603048	chr6:48931959-48944544	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
30	nsv603049	chr6:48931959-49169337	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
31	nsv603055	chr6:48932019-48938399	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
32	nsv603058	chr6:48932479-48938399	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
33	nsv603059	chr6:48932867-48938399	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
34	nsv603060	chr6:48932867-48942969	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
35	nsv603066	chr6:48933070-48938399	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
36	nsv603067	chr6:48933070-48942969	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
37	nsv603069	chr6:48933503-48938399	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
38	nsv603073	chr6:48933770-48938399	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
39	nsv603074	chr6:48933770-48942969	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
40	nsv603076	chr6:48934128-48938399	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
41	nsv603078	chr6:48934352-48938399	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
42	esv3474551	chr6:48934593-48939091	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
43	esv3474552	chr6:48934593-48939091	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
44	nsv603079	chr6:48934594-48938399	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48832200-48944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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