Variant report

Variant	rs12284445
Chromosome Location	chr11:66891943-66891944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66889491..66892272-chr11:66894214..66896649,2	MCF-7	breast:
2	chr11:66886776..66888961-chr11:66889609..66894471,5	MCF-7	breast:
3	chr11:66845756..66848172-chr11:66890985..66894364,3	MCF-7	breast:
4	chr11:66885683..66889952-chr11:66890853..66894477,5	K562	blood:
5	chr11:66890779..66893752-chr11:67007455..67009235,2	K562	blood:

Variant related genes	Relation type
ENSG00000173120	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10128545	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227681	1.00[AMR][1000 genomes]
rs11227704	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227705	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227708	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11227734	1.00[AMR][1000 genomes]
rs11227739	1.00[AMR][1000 genomes]
rs11227741	1.00[AMR][1000 genomes]
rs11227749	1.00[AMR][1000 genomes]
rs11227754	1.00[AMR][1000 genomes]
rs11501507	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270253	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274690	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274763	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275826	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282634	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12282851	1.00[AMR][1000 genomes]
rs12283056	1.00[AMR][1000 genomes]
rs12284546	0.97[AFR][1000 genomes]
rs12285582	1.00[AMR][1000 genomes]
rs12286106	1.00[AMR][1000 genomes]
rs12286762	1.00[AMR][1000 genomes]
rs12287003	1.00[AMR][1000 genomes]
rs12287355	1.00[AMR][1000 genomes]
rs12290300	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293258	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294777	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3730309	1.00[AMR][1000 genomes]
rs3730310	1.00[AMR][1000 genomes]
rs4370946	1.00[AMR][1000 genomes]
rs61758504	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7111472	1.00[AMR][1000 genomes]
rs7128315	1.00[AMR][1000 genomes]
rs7478885	1.00[AMR][1000 genomes]
rs7928575	1.00[AMR][1000 genomes]
rs7945629	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs948988	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66887800-66899600	Weak transcription	Spleen	Spleen
2	chr11:66888600-66892600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:66888600-66922600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:66888800-66892200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:66888800-66892800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:66888800-66897600	Weak transcription	Stomach Mucosa	stomach
7	chr11:66888800-66898600	Weak transcription	Gastric	stomach
8	chr11:66888800-66902200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:66888800-66907400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:66889000-66895600	Weak transcription	Right Ventricle	heart
11	chr11:66889000-66899400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:66889000-66900000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:66889000-66901800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:66889000-66920400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:66889200-66899200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:66889200-66901600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:66889600-66892200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr11:66889600-66896200	Weak transcription	NH-A	brain
19	chr11:66889600-66899200	Weak transcription	NHDF-Ad	bronchial
20	chr11:66889600-66899400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:66889600-66899800	Weak transcription	Colonic Mucosa	Colon
22	chr11:66889800-66893400	Weak transcription	NHLF	lung
23	chr11:66889800-66894600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:66889800-66895400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:66889800-66896000	Weak transcription	Fetal Brain Female	brain
26	chr11:66889800-66896000	Weak transcription	HMEC	breast
27	chr11:66889800-66896200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:66889800-66896200	Weak transcription	Fetal Kidney	kidney
29	chr11:66889800-66896200	Weak transcription	K562	blood
30	chr11:66889800-66899200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:66889800-66899200	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:66889800-66900000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:66889800-66901400	Weak transcription	A549	lung
34	chr11:66889800-66902000	Weak transcription	HUVEC	blood vessel
35	chr11:66889800-66902200	Weak transcription	Aorta	Aorta
36	chr11:66889800-66902400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:66889800-66903800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:66889800-66923400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:66890000-66892200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:66890000-66892200	Weak transcription	Fetal Lung	lung
41	chr11:66890000-66892600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:66890000-66892600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:66890000-66893400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:66890000-66893600	Weak transcription	Primary T cells from cord blood	blood
45	chr11:66890000-66893600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:66890000-66893800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr11:66890000-66894400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:66890000-66894400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:66890000-66896200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:66890000-66896200	Weak transcription	Brain Inferior Temporal Lobe	brain

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