Variant report

Variant	rs12288721
Chromosome Location	chr11:120224591-120224592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120221907..120224622-chr11:120232208..120233856,2	K562	blood:
2	chr11:120221867..120224622-chr11:120232208..120234590,2	K562	blood:
3	chr11:120223412..120225236-chr11:120267280..120269601,2	K562	blood:
4	chr11:120206632..120208724-chr11:120224150..120227495,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196914	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1043467	1.00[EUR][1000 genomes]
rs1113942	1.00[AMR][1000 genomes]
rs11217760	1.00[AMR][1000 genomes]
rs11217761	1.00[AMR][1000 genomes]
rs11217836	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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]
rs12270771	1.00[AMR][1000 genomes]
rs12270828	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273877	1.00[AMR][1000 genomes]
rs12274049	1.00[AMR][1000 genomes]
rs12274700	1.00[AMR][1000 genomes]
rs12278248	1.00[AMR][1000 genomes]
rs12279547	1.00[EUR][1000 genomes]
rs12279552	1.00[EUR][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]
rs12287078	1.00[EUR][1000 genomes]
rs12290907	1.00[AMR][1000 genomes]
rs12291110	1.00[AMR][1000 genomes]
rs12293493	1.00[AMR][1000 genomes]
rs34217050	1.00[EUR][1000 genomes]
rs35985298	1.00[EUR][1000 genomes]
rs41508654	1.00[AMR][1000 genomes]
rs41527451	1.00[AMR][1000 genomes]
rs59801719	1.00[EUR][1000 genomes]
rs59982630	1.00[EUR][1000 genomes]
rs60676831	1.00[EUR][1000 genomes]
rs7111292	1.00[AMR][1000 genomes]
rs73584172	1.00[EUR][1000 genomes]
rs73584179	1.00[EUR][1000 genomes]
rs9665792	1.00[AMR][1000 genomes]
rs9666344	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1050935	chr11:120224544-120276373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120209600-120224600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:120213800-120224600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:120215400-120225600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:120216000-120224800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:120216000-120239000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:120216200-120224600	Weak transcription	Spleen	Spleen
7	chr11:120216200-120224600	Weak transcription	NHEK	skin
8	chr11:120216400-120244800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:120217200-120228600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:120217200-120232000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:120217400-120225600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:120217400-120234000	Weak transcription	Aorta	Aorta
13	chr11:120217600-120257000	Weak transcription	HSMM	muscle
14	chr11:120218000-120228400	Enhancers	Liver	Liver
15	chr11:120218200-120224600	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:120218200-120224800	Weak transcription	NH-A	brain
17	chr11:120218200-120225600	Weak transcription	Psoas Muscle	Psoas
18	chr11:120218200-120229600	Weak transcription	GM12878-XiMat	blood
19	chr11:120218600-120224800	Weak transcription	Fetal Kidney	kidney
20	chr11:120218600-120231800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:120218600-120232000	Weak transcription	Fetal Stomach	stomach
22	chr11:120218600-120232400	Weak transcription	HUVEC	blood vessel
23	chr11:120218800-120224800	Weak transcription	Osteobl	bone
24	chr11:120218800-120230600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:120220400-120232800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:120220600-120225000	Weak transcription	HSMMtube	muscle
27	chr11:120220600-120232000	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:120220800-120225200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:120221000-120224600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:120222600-120225000	Enhancers	K562	blood
31	chr11:120222800-120226000	Enhancers	HepG2	liver
32	chr11:120223200-120225600	Enhancers	Duodenum Mucosa	Duodenum
33	chr11:120223200-120225800	Enhancers	Fetal Intestine Small	intestine
34	chr11:120223200-120225800	Enhancers	Fetal Lung	lung
35	chr11:120223200-120225800	Enhancers	Left Ventricle	heart
36	chr11:120223400-120224800	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:120223400-120225200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:120223400-120225200	Enhancers	Gastric	stomach
39	chr11:120223400-120225200	Enhancers	Pancreas	Pancrea
40	chr11:120223400-120225200	Enhancers	Right Atrium	heart
41	chr11:120223400-120225200	Enhancers	Stomach Mucosa	stomach
42	chr11:120223400-120226400	Enhancers	Fetal Intestine Large	intestine
43	chr11:120223400-120226400	Enhancers	Ovary	ovary
44	chr11:120223400-120226400	Enhancers	Right Ventricle	heart
45	chr11:120223600-120226400	Enhancers	Small Intestine	intestine
46	chr11:120223800-120224600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:120223800-120225800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:120224000-120224800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:120224000-120224800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr11:120224200-120224600	Enhancers	Placenta	Placenta

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