Variant report

Variant	rs12270771
Chromosome Location	chr11:120209812-120209813
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120202465..120204611-chr11:120208153..120210823,2	K562	blood:
2	chr11:120207958..120210253-chr11:120247180..120249390,2	K562	blood:
3	chr11:120208182..120211778-chr11:120301083..120304985,6	K562	blood:
4	chr11:120112775..120115205-chr11:120208059..120211030,2	K562	blood:
5	chr11:120208579..120210474-chr11:120288669..120290503,2	K562	blood:
6	chr11:120208495..120210605-chr11:120212464..120216730,4	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1113942	1.00[AMR][1000 genomes]
rs11217760	1.00[AMR][1000 genomes]
rs11217761	1.00[AMR][1000 genomes]
rs11217836	1.00[AMR][1000 genomes]
rs11217838	1.00[AMR][1000 genomes]
rs11217839	1.00[AMR][1000 genomes]
rs11217856	1.00[AMR][1000 genomes]
rs11217858	1.00[AMR][1000 genomes]
rs11217877	1.00[AMR][1000 genomes]
rs12270008	1.00[AMR][1000 genomes]
rs12270828	1.00[AMR][1000 genomes]
rs12273877	1.00[AMR][1000 genomes]
rs12274049	1.00[AMR][1000 genomes]
rs12274700	1.00[AMR][1000 genomes]
rs12278248	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279703	1.00[AMR][1000 genomes]
rs12281329	1.00[AMR][1000 genomes]
rs12281935	1.00[AMR][1000 genomes]
rs12282434	1.00[AMR][1000 genomes]
rs12284358	1.00[AMR][1000 genomes]
rs12284391	1.00[AMR][1000 genomes]
rs12285963	1.00[AMR][1000 genomes]
rs12286613	1.00[AMR][1000 genomes]
rs12288721	1.00[AMR][1000 genomes]
rs12290907	1.00[AMR][1000 genomes]
rs12291110	1.00[AMR][1000 genomes]
rs12293493	1.00[AMR][1000 genomes]
rs41508654	1.00[AMR][1000 genomes]
rs41527451	1.00[AMR][1000 genomes]
rs7111292	1.00[AMR][1000 genomes]
rs9665792	1.00[AMR][1000 genomes]
rs9666344	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120205600-120210000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:120205600-120210000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr11:120205600-120210000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:120205600-120210000	Active TSS	Colon Smooth Muscle	Colon
5	chr11:120205600-120210000	Active TSS	Hela-S3	cervix
6	chr11:120205600-120210200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:120205600-120210200	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr11:120205600-120210200	Active TSS	A549	lung
9	chr11:120205600-120210600	Active TSS	Brain Cingulate Gyrus	brain
10	chr11:120205600-120210800	Active TSS	Colonic Mucosa	Colon
11	chr11:120205600-120211600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:120205800-120210200	Active TSS	Psoas Muscle	Psoas
13	chr11:120205800-120210200	Active TSS	NHDF-Ad	bronchial
14	chr11:120205800-120210400	Active TSS	Ovary	ovary
15	chr11:120205800-120210800	Active TSS	Aorta	Aorta
16	chr11:120205800-120210800	Active TSS	Brain Angular Gyrus	brain
17	chr11:120205800-120211000	Active TSS	Left Ventricle	heart
18	chr11:120205800-120211200	Active TSS	Right Atrium	heart
19	chr11:120205800-120211600	Active TSS	Right Ventricle	heart
20	chr11:120206200-120210000	Active TSS	Muscle Satellite Cultured Cells	--
21	chr11:120206200-120210400	Active TSS	Fetal Stomach	stomach
22	chr11:120206200-120210800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:120206200-120211400	Active TSS	NHLF	lung
24	chr11:120206400-120210000	Active TSS	Brain Anterior Caudate	brain
25	chr11:120206400-120210200	Active TSS	Fetal Brain Female	brain
26	chr11:120206400-120210200	Active TSS	HSMM	muscle
27	chr11:120206400-120210400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:120206400-120210400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:120206400-120210400	Active TSS	Rectal Smooth Muscle	rectum
30	chr11:120206400-120210800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr11:120206600-120210000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:120206600-120210000	Active TSS	HUVEC	blood vessel
33	chr11:120206600-120210200	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr11:120206600-120210800	Active TSS	Liver	Liver
35	chr11:120206600-120210800	Active TSS	HSMMtube	muscle
36	chr11:120206800-120210200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr11:120207000-120210800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:120207600-120210200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:120207800-120210000	Active TSS	Brain Germinal Matrix	brain
40	chr11:120207800-120211000	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr11:120208200-120211600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:120208400-120210200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:120208400-120210600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
44	chr11:120208400-120211400	Active TSS	K562	blood
45	chr11:120208600-120210200	Active TSS	Stomach Smooth Muscle	stomach
46	chr11:120208800-120210200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:120208800-120210200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:120208800-120210200	Active TSS	Fetal Muscle Leg	muscle
49	chr11:120208800-120210200	Weak transcription	Small Intestine	intestine
50	chr11:120208800-120210200	Weak transcription	Spleen	Spleen

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