Variant report

Variant	rs11169166
Chromosome Location	chr12:50215905-50215906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50172187..50173794-chr12:50215810..50217637,2	MCF-7	breast:
2	chr12:50213961..50216545-chr12:50234924..50237715,2	MCF-7	breast:
3	chr12:50200740..50202923-chr12:50213695..50216667,2	MCF-7	breast:
4	chr12:50214966..50217807-chr12:50220350..50223080,3	K562	blood:
5	chr12:50168706..50170738-chr12:50213916..50216913,2	MCF-7	breast:
6	chr12:50200354..50203165-chr12:50213791..50216673,2	K562	blood:

Variant related genes	Relation type
ENSG00000167566	Chromatin interaction
ENSG00000258057	Chromatin interaction
ENSG00000186666	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1031476	0.82[EUR][1000 genomes]
rs1031477	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875976	0.92[ASN][1000 genomes]
rs11169162	0.81[AFR][1000 genomes]
rs11169167	0.82[EUR][1000 genomes]
rs11169170	0.92[ASN][1000 genomes]
rs4898534	0.92[ASN][1000 genomes]
rs4898535	0.89[ASN][1000 genomes]
rs55677077	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55758326	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66908137	0.82[EUR][1000 genomes]
rs7953539	0.92[ASN][1000 genomes]
rs7973894	0.93[ASN][1000 genomes]
rs897054	0.80[EUR][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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50195200-50218400	Weak transcription	K562	blood
2	chr12:50197600-50220400	Weak transcription	A549	lung
3	chr12:50199400-50218400	Weak transcription	HMEC	breast
4	chr12:50200000-50216800	Weak transcription	NHEK	skin
5	chr12:50200000-50219400	Weak transcription	Gastric	stomach
6	chr12:50202200-50217000	Weak transcription	HepG2	liver
7	chr12:50202200-50218400	Weak transcription	Fetal Brain Female	brain
8	chr12:50203600-50218000	Weak transcription	NH-A	brain
9	chr12:50203600-50219800	Weak transcription	Aorta	Aorta
10	chr12:50203800-50217800	Weak transcription	NHLF	lung
11	chr12:50203800-50218600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:50204200-50217800	Weak transcription	Fetal Brain Male	brain
13	chr12:50204400-50216600	Weak transcription	Brain Germinal Matrix	brain
14	chr12:50204400-50220200	Weak transcription	Fetal Kidney	kidney
15	chr12:50205200-50219000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:50205200-50220000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:50205600-50216600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:50208800-50221200	Weak transcription	Small Intestine	intestine
19	chr12:50210200-50216600	Weak transcription	Ovary	ovary
20	chr12:50210200-50216800	Weak transcription	HSMMtube	muscle
21	chr12:50210200-50218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:50210200-50218400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:50212000-50217600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:50212200-50216000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:50213400-50216000	Enhancers	Adipose Nuclei	Adipose
26	chr12:50213600-50216000	Enhancers	Left Ventricle	heart
27	chr12:50213600-50216000	Enhancers	Right Ventricle	heart
28	chr12:50213600-50218000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:50213600-50219000	Enhancers	Brain Hippocampus Middle	brain
30	chr12:50213600-50219000	Genic enhancers	Fetal Muscle Leg	muscle
31	chr12:50213800-50216000	Enhancers	Right Atrium	heart
32	chr12:50213800-50216200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr12:50213800-50217000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:50213800-50218800	Weak transcription	Hela-S3	cervix
35	chr12:50213800-50219000	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr12:50214000-50216600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:50214000-50218200	Weak transcription	NHDF-Ad	bronchial
38	chr12:50214200-50217600	Weak transcription	Fetal Intestine Large	intestine
39	chr12:50214400-50216000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:50214400-50216000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr12:50214400-50216200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr12:50214400-50216200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr12:50214400-50216200	Enhancers	Brain Substantia Nigra	brain
44	chr12:50214400-50216400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr12:50214400-50216400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:50214400-50218000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:50214400-50220200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr12:50214400-50220800	Enhancers	Placenta	Placenta
49	chr12:50214600-50216000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:50214600-50216000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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