Variant report

Variant	rs11169280
Chromosome Location	chr12:50526161-50526162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50525700..50528015-chr12:50536583..50539181,2	MCF-7	breast:
2	chr12:50524715..50526452-chr12:50529761..50531846,2	K562	blood:
3	chr12:50526029..50526560-chr12:50708191..50708705,2	K562	blood:
4	chr12:50515617..50517126-chr12:50524632..50526499,2	K562	blood:
5	chr12:50525406..50528688-chr12:50558864..50561981,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139624	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11169272	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169273	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169279	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305438	1.00[AMR][1000 genomes]
rs12309501	1.00[AMR][1000 genomes]
rs296735	1.00[AMR][1000 genomes]
rs296738	1.00[AMR][1000 genomes]
rs296753	1.00[AMR][1000 genomes]
rs372753	1.00[AMR][1000 genomes]
rs55800109	1.00[AMR][1000 genomes]
rs57143574	1.00[AMR][1000 genomes]
rs57596053	1.00[AMR][1000 genomes]
rs58826760	1.00[AMR][1000 genomes]
rs61221429	1.00[AMR][1000 genomes]
rs672697	1.00[AMR][1000 genomes]
rs7312996	1.00[AMR][1000 genomes]
rs74090092	1.00[AMR][1000 genomes]
rs74090094	1.00[AMR][1000 genomes]
rs74090112	1.00[AMR][1000 genomes]
rs74092539	1.00[AMR][1000 genomes]
rs7963427	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	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	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 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	chr12:50507000-50537400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:50507000-50539600	Weak transcription	Stomach Mucosa	stomach
3	chr12:50507200-50532000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:50510800-50528400	Strong transcription	Liver	Liver
5	chr12:50511200-50538200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:50511400-50538600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:50512600-50529200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:50512600-50538200	Strong transcription	Primary B cells from cord blood	blood
9	chr12:50516000-50532400	Strong transcription	Duodenum Mucosa	Duodenum
10	chr12:50516600-50536200	Strong transcription	Fetal Intestine Large	intestine
11	chr12:50517600-50548000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:50518000-50532400	Strong transcription	HSMM	muscle
13	chr12:50519200-50538200	Strong transcription	Fetal Muscle Leg	muscle
14	chr12:50519400-50538400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:50519600-50532600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:50519600-50537800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:50519600-50538200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr12:50520200-50529400	Strong transcription	Fetal Intestine Small	intestine
19	chr12:50520200-50537800	Strong transcription	Primary T cells from cord blood	blood
20	chr12:50520200-50539000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:50520400-50526400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:50520400-50528400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:50520400-50529800	Strong transcription	Lung	lung
24	chr12:50520400-50530600	Strong transcription	Fetal Stomach	stomach
25	chr12:50520400-50538000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:50520600-50526400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:50520600-50526600	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:50520600-50526600	Strong transcription	Osteobl	bone
29	chr12:50520600-50528400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:50520600-50528400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:50520600-50528800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:50520600-50533800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:50520600-50537400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:50520600-50537800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:50520600-50537800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:50520600-50538000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:50520600-50538200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:50520600-50538200	Strong transcription	Fetal Thymus	thymus
39	chr12:50520600-50538400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:50520600-50538600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:50520600-50538600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:50520800-50527200	Strong transcription	GM12878-XiMat	blood
43	chr12:50520800-50528600	Strong transcription	Rectal Smooth Muscle	rectum
44	chr12:50520800-50529200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr12:50520800-50532400	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:50520800-50532800	Strong transcription	Dnd41	blood
47	chr12:50520800-50537800	Strong transcription	Fetal Lung	lung
48	chr12:50520800-50538200	Strong transcription	Thymus	Thymus
49	chr12:50521000-50526400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:50521000-50532600	Strong transcription	Placenta	Placenta

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