Variant report

Variant	rs12281329
Chromosome Location	chr11:120285636-120285637
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120283525..120285129-chr11:120285386..120287341,2	MCF-7	breast:
2	chr11:120221531..120223871-chr11:120285181..120286772,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1113942	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217836	1.00[AMR][1000 genomes]
rs11217838	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217839	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217858	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217877	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270008	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270771	1.00[AMR][1000 genomes]
rs12270828	1.00[AMR][1000 genomes]
rs12273877	1.00[AMR][1000 genomes]
rs12274049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278248	1.00[AMR][1000 genomes]
rs12279703	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281935	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284358	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285963	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286613	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288721	1.00[AMR][1000 genomes]
rs12290907	1.00[AMR][1000 genomes]
rs12291110	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293493	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41508654	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41527451	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7111292	1.00[AMR][1000 genomes]
rs9665792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9666344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1037573	chr11:120230243-120286918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1050789	chr11:120238962-120286918	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1046430	chr11:120238962-120294026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120265800-120295600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:120269200-120295200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:120270400-120292200	Weak transcription	Fetal Stomach	stomach
4	chr11:120271600-120300200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:120272000-120287000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:120272000-120287000	Weak transcription	Fetal Muscle Leg	muscle
7	chr11:120272000-120288400	Weak transcription	Aorta	Aorta
8	chr11:120272000-120291200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:120272000-120291400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:120272000-120302400	Weak transcription	Brain Anterior Caudate	brain
11	chr11:120272200-120291400	Weak transcription	GM12878-XiMat	blood
12	chr11:120272200-120292600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:120272200-120292800	Weak transcription	Fetal Kidney	kidney
14	chr11:120272200-120295200	Weak transcription	Brain Angular Gyrus	brain
15	chr11:120272200-120295200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:120272200-120299000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:120272200-120315600	Weak transcription	Brain Germinal Matrix	brain
18	chr11:120272200-120315800	Weak transcription	Brain Hippocampus Middle	brain
19	chr11:120272400-120288600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:120272400-120290400	Weak transcription	Fetal Intestine Large	intestine
21	chr11:120272400-120292200	Weak transcription	Fetal Intestine Small	intestine
22	chr11:120272400-120320600	Weak transcription	Psoas Muscle	Psoas
23	chr11:120272600-120288800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:120274200-120295600	Weak transcription	Pancreas	Pancrea
25	chr11:120274800-120292400	Weak transcription	HepG2	liver
26	chr11:120274800-120294800	Weak transcription	A549	lung
27	chr11:120274800-120295200	Weak transcription	Small Intestine	intestine
28	chr11:120275400-120295200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:120275600-120295200	Weak transcription	Ovary	ovary
30	chr11:120275600-120295400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:120275600-120302400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:120275600-120302600	Weak transcription	K562	blood
33	chr11:120275600-120322200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:120275800-120285800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:120275800-120291400	Weak transcription	Adipose Nuclei	Adipose
36	chr11:120275800-120291400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:120275800-120300200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:120275800-120314000	Weak transcription	Right Ventricle	heart
39	chr11:120276000-120286600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:120276000-120295200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:120276400-120295400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:120276600-120302200	Weak transcription	Fetal Heart	heart
43	chr11:120276800-120295400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr11:120277600-120319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:120278200-120295600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr11:120278600-120289400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:120278600-120291400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:120278600-120295200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr11:120278800-120292600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:120278800-120295600	Weak transcription	Fetal Brain Female	brain

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