Variant report

Variant	rs12114017
Chromosome Location	chr7:3471509-3471510
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3444122..3444632-chr7:3471439..3472016,2	MCF-7	breast:
2	chr7:3466489..3468571-chr7:3470496..3474286,3	MCF-7	breast:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs12530614	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs28396741	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56945505	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57519297	1.00[AMR][1000 genomes]
rs57938715	1.00[AMR][1000 genomes]
rs58262427	1.00[AMR][1000 genomes]
rs58317645	1.00[AMR][1000 genomes]
rs58502351	1.00[AMR][1000 genomes]
rs59223438	1.00[AMR][1000 genomes]
rs59679657	1.00[AMR][1000 genomes]
rs60368813	1.00[AMR][1000 genomes]
rs60666675	1.00[AMR][1000 genomes]
rs61445469	1.00[AMR][1000 genomes]
rs73292162	1.00[AMR][1000 genomes]
rs73292182	1.00[AMR][1000 genomes]
rs73292183	1.00[AMR][1000 genomes]
rs73292190	1.00[AMR][1000 genomes]
rs73293132	1.00[AMR][1000 genomes]
rs73293152	1.00[AMR][1000 genomes]
rs73293175	1.00[AMR][1000 genomes]
rs73293185	1.00[AMR][1000 genomes]
rs73294209	1.00[AMR][1000 genomes]
rs73294216	1.00[AMR][1000 genomes]
rs73294222	1.00[AMR][1000 genomes]
rs73294223	1.00[AMR][1000 genomes]
rs73294245	1.00[AMR][1000 genomes]
rs73294247	1.00[AMR][1000 genomes]
rs73294254	1.00[AMR][1000 genomes]
rs73294256	1.00[AMR][1000 genomes]
rs73294258	1.00[AMR][1000 genomes]
rs73294267	1.00[AMR][1000 genomes]
rs73294270	1.00[AMR][1000 genomes]
rs73296236	1.00[AMR][1000 genomes]
rs73296244	1.00[AMR][1000 genomes]
rs73296252	1.00[AMR][1000 genomes]
rs73296254	1.00[AMR][1000 genomes]
rs73296260	1.00[AMR][1000 genomes]
rs73296264	1.00[AMR][1000 genomes]
rs73296330	1.00[AMR][1000 genomes]
rs73296331	1.00[AMR][1000 genomes]
rs73296344	1.00[AMR][1000 genomes]
rs73296357	1.00[AMR][1000 genomes]
rs73296358	1.00[AMR][1000 genomes]
rs73296760	1.00[AMR][1000 genomes]
rs73296766	1.00[AMR][1000 genomes]
rs73298370	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298373	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298374	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298379	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298387	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298397	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300393	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300394	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302308	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302316	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302318	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303045	1.00[AMR][1000 genomes]
rs73303052	1.00[AMR][1000 genomes]
rs73303062	1.00[AMR][1000 genomes]
rs73303065	1.00[AMR][1000 genomes]
rs73303071	1.00[AMR][1000 genomes]
rs73309905	1.00[AMR][1000 genomes]
rs73309923	1.00[AMR][1000 genomes]
rs73309930	1.00[AMR][1000 genomes]
rs7789842	1.00[AMR][1000 genomes]
rs7804193	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2758100	chr7:3286625-3560229	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759500	chr7:3286625-3560229	Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1019515	chr7:3300048-3479972	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1020764	chr7:3348458-3554820	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv538662	chr7:3348458-3554820	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1019492	chr7:3359294-3479972	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv538663	chr7:3359294-3479972	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1030484	chr7:3364990-3506102	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv2764026	chr7:3365002-3618361	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1018105	chr7:3365441-3506102	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv1026361	chr7:3366960-3502600	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv538664	chr7:3366960-3502600	Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv605893	chr7:3368197-3505231	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv1015296	chr7:3381813-3560401	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv887327	chr7:3393170-3472464	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv1033743	chr7:3395234-3494122	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv464269	chr7:3400105-3472721	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv605899	chr7:3400105-3472721	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	nsv1022859	chr7:3404736-3479972	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	nsv1029937	chr7:3408050-3506316	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
25	nsv538668	chr7:3408050-3506316	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	nsv1016575	chr7:3411358-3479972	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	nsv916071	chr7:3423207-3697428	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	nsv887329	chr7:3424878-3490865	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
29	nsv887330	chr7:3424878-3515437	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
30	nsv887331	chr7:3434275-3475716	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
31	nsv605901	chr7:3445311-3479432	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
32	nsv1025850	chr7:3446819-3474084	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
33	nsv528715	chr7:3451251-3598581	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
34	nsv887332	chr7:3455249-3521000	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
35	nsv605902	chr7:3464896-3598581	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3467800-3472800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:3468800-3482400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:3469400-3471600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:3469600-3471600	Enhancers	NHEK	skin
5	chr7:3469600-3479000	Weak transcription	Aorta	Aorta
6	chr7:3470400-3475000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:3470400-3476800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:3470400-3482800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:3470600-3471600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:3470600-3472200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:3470600-3475200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:3470600-3479000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:3470800-3476400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:3470800-3479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:3471000-3477000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:3471200-3473600	Enhancers	NHDF-Ad	bronchial
17	chr7:3471200-3475400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:3471400-3474000	Weak transcription	HMEC	breast
19	chr7:3471400-3475400	Weak transcription	NH-A	brain
20	chr7:3471400-3475800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:3471400-3476200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:3471400-3477000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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