Variant report

Variant	rs11838333
Chromosome Location	chr12:51012822-51012823
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51012150..51015682-chr12:51031873..51033630,3	MCF-7	breast:
2	chr12:51011614..51015432-chr12:51015649..51019939,6	MCF-7	breast:
3	chr12:51008134..51009859-chr12:51011789..51014896,3	K562	blood:
4	chr12:51007470..51011222-chr12:51011716..51014523,4	K562	blood:
5	chr12:51010106..51013321-chr12:51014428..51017771,4	K562	blood:
6	chr12:50898130..50900201-chr12:51012676..51014777,2	MCF-7	breast:
7	chr12:51011830..51013610-chr12:51014850..51017833,2	MCF-7	breast:
8	chr12:51010956..51013399-chr12:51030994..51033191,2	MCF-7	breast:
9	chr12:51012020..51014693-chr12:51019365..51022263,2	MCF-7	breast:
10	chr12:50896850..50900155-chr12:51012799..51015925,4	K562	blood:
11	chr12:50972299..50974620-chr12:51011997..51014458,2	MCF-7	breast:
12	chr12:50898246..50903498-chr12:51010215..51015015,10	MCF-7	breast:
13	chr12:50994951..50996590-chr12:51012616..51015184,2	MCF-7	breast:
14	chr12:51007721..51011700-chr12:51012673..51015464,4	MCF-7	breast:
15	chr12:50925165..50930036-chr12:51011670..51016786,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11836763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58366731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60760540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7959868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7976860	1.00[EUR][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	esv1822840	chr12:50973897-51015509	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50979200-51013800	Weak transcription	Fetal Stomach	stomach
2	chr12:50991600-51014000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:50992400-51015200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:50993000-51013800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:50993000-51013800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:50993600-51013400	Weak transcription	GM12878-XiMat	blood
7	chr12:50994600-51018600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:50997600-51013000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:50997600-51014200	Weak transcription	Spleen	Spleen
10	chr12:50998600-51013000	Weak transcription	Gastric	stomach
11	chr12:51003600-51013200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:51003600-51015400	Enhancers	Brain Hippocampus Middle	brain
13	chr12:51005000-51013600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:51005600-51013200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:51005600-51013800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:51005800-51013800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:51006000-51014000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:51006000-51014200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:51006200-51014000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:51006600-51016000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:51007000-51013200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:51007000-51017600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr12:51007200-51013600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:51007400-51014000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:51007600-51013200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:51007600-51013200	Weak transcription	Aorta	Aorta
27	chr12:51007600-51014200	Weak transcription	Primary B cells from cord blood	blood
28	chr12:51008200-51014600	Weak transcription	Fetal Kidney	kidney
29	chr12:51008400-51013000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:51008400-51013200	Weak transcription	Right Ventricle	heart
31	chr12:51008400-51013800	Weak transcription	Adipose Nuclei	Adipose
32	chr12:51008600-51013000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:51008600-51013200	Weak transcription	Left Ventricle	heart
34	chr12:51008600-51013200	Weak transcription	NHLF	lung
35	chr12:51008600-51013800	Weak transcription	Psoas Muscle	Psoas
36	chr12:51008600-51014200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr12:51008600-51015400	Weak transcription	Ovary	ovary
38	chr12:51008600-51015600	Weak transcription	HUVEC	blood vessel
39	chr12:51008800-51013800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:51008800-51014000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:51008800-51014000	Weak transcription	Fetal Lung	lung
42	chr12:51009800-51013400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:51009800-51016000	Enhancers	HMEC	breast
44	chr12:51010000-51013000	Weak transcription	Fetal Thymus	thymus
45	chr12:51010000-51013400	Weak transcription	Thymus	Thymus
46	chr12:51010000-51013800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:51010000-51013800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:51010000-51013800	Weak transcription	Liver	Liver
49	chr12:51010000-51013800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:51010000-51014000	Weak transcription	H9 Cell Line	embryonic stem cell

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