Variant report

Variant	rs12286625
Chromosome Location	chr11:100502157-100502158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100483839..100486861-chr11:100501831..100504334,3	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11224332	1.00[AMR][1000 genomes]
rs11224341	1.00[AMR][1000 genomes]
rs11224343	1.00[AMR][1000 genomes]
rs11224346	1.00[AMR][1000 genomes]
rs11224385	1.00[AMR][1000 genomes]
rs11224428	1.00[AMR][1000 genomes]
rs11224429	1.00[AMR][1000 genomes]
rs11224438	1.00[AMR][1000 genomes]
rs11224465	1.00[AMR][1000 genomes]
rs12274762	1.00[AMR][1000 genomes]
rs12275133	1.00[AMR][1000 genomes]
rs12275796	1.00[AMR][1000 genomes]
rs12277269	1.00[AMR][1000 genomes]
rs12278938	1.00[AMR][1000 genomes]
rs12279270	1.00[AMR][1000 genomes]
rs12279931	1.00[AMR][1000 genomes]
rs12281021	1.00[AMR][1000 genomes]
rs12286434	1.00[AMR][1000 genomes]
rs12295600	1.00[AMR][1000 genomes]
rs56805393	1.00[AMR][1000 genomes]
rs61104011	1.00[AMR][1000 genomes]
rs73565305	1.00[AMR][1000 genomes]
rs73565310	1.00[AMR][1000 genomes]
rs73565331	1.00[AMR][1000 genomes]
rs73565337	1.00[AMR][1000 genomes]
rs73565348	1.00[AMR][1000 genomes]
rs73567534	1.00[AMR][1000 genomes]
rs73571424	1.00[AMR][1000 genomes]
rs73573332	1.00[AMR][1000 genomes]
rs73575539	1.00[AMR][1000 genomes]
rs73580523	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053430	chr11:99888390-100629136	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1042067	chr11:99889697-100629136	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv556122	chr11:99893282-100585889	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1037689	chr11:99895378-100624599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1040942	chr11:99895378-100629136	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1039852	chr11:99901695-100610533	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv541152	chr11:99901695-100610533	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1045190	chr11:99913193-100627395	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv541153	chr11:99913193-100627395	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv529454	chr11:99913394-100627255	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1043022	chr11:100387466-100610533	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv832246	chr11:100426725-100606957	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv556128	chr11:100493995-100513913	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1037743	chr11:100498709-100521043	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100500600-100503400	Enhancers	Liver	Liver
2	chr11:100501000-100503800	Weak transcription	Fetal Brain Male	brain
3	chr11:100501400-100502200	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr11:100501400-100502400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:100501400-100502400	Enhancers	Fetal Intestine Large	intestine
6	chr11:100501400-100502600	Enhancers	Stomach Mucosa	stomach
7	chr11:100501400-100502800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr11:100501600-100502200	Enhancers	Fetal Lung	lung
9	chr11:100501600-100502400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:100501600-100502400	Enhancers	Fetal Muscle Leg	muscle
11	chr11:100501600-100502400	Enhancers	Left Ventricle	heart
12	chr11:100501600-100502400	Enhancers	Ovary	ovary
13	chr11:100501600-100502400	Enhancers	Right Atrium	heart
14	chr11:100501600-100502400	Enhancers	Right Ventricle	heart
15	chr11:100501600-100502400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr11:100501600-100502400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:100501600-100502400	Enhancers	Spleen	Spleen
18	chr11:100501600-100502600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:100501600-100504600	Enhancers	Placenta	Placenta
20	chr11:100501800-100502200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr11:100501800-100502200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:100501800-100502400	Enhancers	Psoas Muscle	Psoas
23	chr11:100501800-100502600	Enhancers	Duodenum Mucosa	Duodenum
24	chr11:100501800-100502600	Enhancers	Fetal Intestine Small	intestine
25	chr11:100501800-100504200	Enhancers	Fetal Stomach	stomach
26	chr11:100501800-100506200	Enhancers	Fetal Heart	heart
27	chr11:100501800-100512200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:100502000-100502200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:100502000-100502200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr11:100502000-100502400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:100502000-100502400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:100502000-100502400	Enhancers	Small Intestine	intestine
33	chr11:100502000-100503400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:100502000-100503800	Weak transcription	K562	blood
35	chr11:100502000-100509400	Weak transcription	Fetal Kidney	kidney
36	chr11:100502000-100512800	Weak transcription	Gastric	stomach

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