Variant report

Variant	rs12285427
Chromosome Location	chr11:73429598-73429599
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	chr11:73426792..73429606-chr11:73433522..73435254,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11235902	0.92[AFR][1000 genomes]
rs12274842	0.86[AFR][1000 genomes]
rs12274929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282345	0.92[AFR][1000 genomes]
rs12282353	0.88[AFR][1000 genomes]
rs12283979	0.92[AFR][1000 genomes]
rs12284155	0.92[AFR][1000 genomes]
rs12286218	0.92[AFR][1000 genomes]
rs12292115	0.88[AFR][1000 genomes]
rs56753942	1.00[AMR][1000 genomes]
rs58148519	0.88[AFR][1000 genomes]
rs60345105	0.88[AFR][1000 genomes]
rs73536697	1.00[AMR][1000 genomes]
rs73538640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv390	chr11:73388188-73432899	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73382200-73436000	Weak transcription	Small Intestine	intestine
2	chr11:73382200-73441200	Weak transcription	Stomach Mucosa	stomach
3	chr11:73385000-73449800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:73389000-73445400	Weak transcription	Fetal Brain Male	brain
5	chr11:73389200-73440200	Weak transcription	Right Ventricle	heart
6	chr11:73390800-73429600	Weak transcription	NHLF	lung
7	chr11:73391000-73433600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr11:73394400-73430200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:73396000-73448000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:73400400-73449400	Weak transcription	Psoas Muscle	Psoas
11	chr11:73405200-73429600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:73407000-73432000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:73409600-73447800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:73410000-73434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr11:73410800-73431800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:73411000-73447600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:73411000-73460000	Weak transcription	Colonic Mucosa	Colon
18	chr11:73413400-73440400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
20	chr11:73413600-73447600	Weak transcription	Left Ventricle	heart
21	chr11:73415000-73436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
23	chr11:73416400-73429600	Weak transcription	Ovary	ovary
24	chr11:73417000-73440400	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:73417200-73469600	Weak transcription	Fetal Kidney	kidney
26	chr11:73417800-73429600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:73418200-73443400	Weak transcription	Brain Germinal Matrix	brain
28	chr11:73418400-73463200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:73418600-73429600	Weak transcription	HSMMtube	muscle
30	chr11:73419000-73429600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:73419000-73429600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:73422200-73429600	Weak transcription	Lung	lung
33	chr11:73422400-73429600	Weak transcription	Pancreas	Pancrea
34	chr11:73422400-73429600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:73422400-73443400	Weak transcription	Spleen	Spleen
36	chr11:73422400-73454000	Weak transcription	Gastric	stomach
37	chr11:73422800-73429600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:73422800-73436000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:73422800-73448000	Weak transcription	Fetal Brain Female	brain
40	chr11:73423000-73429600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:73423000-73430200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:73424000-73429600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:73424000-73431800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr11:73424600-73432400	Strong transcription	HepG2	liver
45	chr11:73425400-73430000	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:73425800-73430000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:73426000-73432600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:73426200-73430400	Enhancers	Brain Hippocampus Middle	brain
49	chr11:73426200-73430800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:73426400-73429600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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