Variant report

Variant	rs12225516
Chromosome Location	chr11:71175977-71175978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11233570	0.82[ASN][1000 genomes]
rs11535840	1.00[AMR][1000 genomes]
rs58906324	0.82[ASN][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	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1037357	chr11:71162241-71209628	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv541085	chr11:71162241-71209628	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1052432	chr11:71167449-71213007	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	9 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	chr11:71165000-71210000	Weak transcription	Psoas Muscle	Psoas
2	chr11:71165200-71177400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:71165200-71177600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:71165200-71199200	Weak transcription	Right Atrium	heart
5	chr11:71165400-71194200	Weak transcription	Fetal Heart	heart
6	chr11:71165800-71178200	Strong transcription	NHLF	lung
7	chr11:71165800-71178400	Strong transcription	Fetal Stomach	stomach
8	chr11:71165800-71179200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:71165800-71179200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:71165800-71179200	Strong transcription	Fetal Muscle Leg	muscle
11	chr11:71165800-71180400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:71165800-71218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:71166000-71176000	Strong transcription	Brain Anterior Caudate	brain
14	chr11:71166000-71178400	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:71166000-71178600	Strong transcription	Primary T cells from cord blood	blood
16	chr11:71166000-71178600	Strong transcription	Spleen	Spleen
17	chr11:71166000-71179200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:71166000-71180000	Strong transcription	A549	lung
19	chr11:71166000-71180200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:71166000-71180200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr11:71166000-71194200	Weak transcription	Fetal Brain Male	brain
22	chr11:71166200-71178000	Strong transcription	Aorta	Aorta
23	chr11:71166200-71178000	Strong transcription	Fetal Intestine Small	intestine
24	chr11:71166200-71178400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:71166200-71178400	Strong transcription	Thymus	Thymus
26	chr11:71166200-71178600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr11:71166200-71178600	Strong transcription	Lung	lung
28	chr11:71166200-71178600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr11:71166200-71178800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:71166200-71178800	Strong transcription	Stomach Smooth Muscle	stomach
31	chr11:71166200-71179000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:71166200-71179000	Strong transcription	Adipose Nuclei	Adipose
33	chr11:71166200-71179400	Strong transcription	Liver	Liver
34	chr11:71166200-71179600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:71166200-71179800	Strong transcription	Primary B cells from cord blood	blood
36	chr11:71166200-71180000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:71166200-71180000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr11:71166200-71180000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr11:71166200-71180400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr11:71166400-71177400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:71166400-71178400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:71166400-71179000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr11:71166400-71179200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:71166400-71179200	Strong transcription	Fetal Intestine Large	intestine
45	chr11:71166400-71180400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:71166600-71176600	Strong transcription	Colonic Mucosa	Colon
47	chr11:71166600-71177200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:71166600-71179200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:71166800-71178400	Strong transcription	GM12878-XiMat	blood
50	chr11:71167200-71179800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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