Variant report

Variant	rs11834260
Chromosome Location	chr12:58287254-58287255
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:58271722..58273746-chr12:58285957..58287603,2	MCF-7	breast:
2	chr12:58236711..58242486-chr12:58286970..58293951,15	MCF-7	breast:
3	chr12:58233944..58243826-chr12:58273095..58290464,46	MCF-7	breast:
4	chr12:58281679..58287586-chr12:58288167..58292013,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245651	Chromatin interaction
ENSG00000175215	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11172376	1.00[ASN][1000 genomes]
rs11172377	1.00[ASN][1000 genomes]
rs12296922	0.95[ASN][1000 genomes]
rs12309291	1.00[ASN][1000 genomes]
rs12322495	0.95[ASN][1000 genomes]
rs12322586	1.00[ASN][1000 genomes]
rs17119981	1.00[ASN][1000 genomes]
rs17119991	0.95[ASN][1000 genomes]
rs34241380	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34372362	1.00[ASN][1000 genomes]
rs35441007	0.95[ASN][1000 genomes]
rs35985500	0.95[ASN][1000 genomes]
rs61935768	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58280200-58287400	Enhancers	Fetal Muscle Leg	muscle
2	chr12:58280400-58288000	Enhancers	Fetal Intestine Large	intestine
3	chr12:58281000-58288000	Enhancers	Fetal Muscle Trunk	muscle
4	chr12:58281400-58287800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:58281400-58287800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:58281600-58288400	Enhancers	K562	blood
7	chr12:58282200-58289600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:58282400-58287800	Enhancers	Ovary	ovary
9	chr12:58282800-58287400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:58282800-58287400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:58282800-58287400	Enhancers	Fetal Kidney	kidney
12	chr12:58283000-58287800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:58283000-58288200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:58283000-58288200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr12:58283200-58287400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:58283200-58287400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:58283200-58287600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:58283200-58287600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:58283200-58288400	Weak transcription	Primary T cells from cord blood	blood
20	chr12:58283200-58288400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:58283400-58287400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:58283400-58287600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:58283400-58287600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:58283400-58288400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:58283600-58287400	Weak transcription	Thymus	Thymus
26	chr12:58283600-58287600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:58283800-58287400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr12:58284400-58287400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr12:58284400-58287800	Enhancers	Colonic Mucosa	Colon
30	chr12:58284600-58287600	Weak transcription	Hela-S3	cervix
31	chr12:58285000-58288000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:58285400-58287400	Enhancers	Small Intestine	intestine
33	chr12:58285400-58287400	Enhancers	NHLF	lung
34	chr12:58285600-58287400	Enhancers	Brain Hippocampus Middle	brain
35	chr12:58285600-58287800	Enhancers	Fetal Heart	heart
36	chr12:58285600-58290000	Enhancers	Brain Angular Gyrus	brain
37	chr12:58285600-58290000	Enhancers	Left Ventricle	heart
38	chr12:58285600-58290200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr12:58285800-58287400	Enhancers	Brain Anterior Caudate	brain
40	chr12:58285800-58287400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:58285800-58289600	Enhancers	Duodenum Mucosa	Duodenum
42	chr12:58285800-58289800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:58285800-58290000	Enhancers	Placenta	Placenta
44	chr12:58285800-58290000	Enhancers	Right Atrium	heart
45	chr12:58285800-58290000	Enhancers	Right Ventricle	heart
46	chr12:58285800-58290200	Enhancers	Lung	lung
47	chr12:58286000-58287800	Enhancers	GM12878-XiMat	blood
48	chr12:58286000-58289800	Enhancers	Stomach Mucosa	stomach
49	chr12:58286000-58290600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:58286200-58287400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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