Variant report

Variant	rs530364691
Chromosome Location	chr12:51476477-51476478
allele	C/T
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:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51155941..51160401-chr12:51475746..51478915,6	K562	blood:
2	chr12:51397752..51401111-chr12:51474159..51477147,3	MCF-7	breast:
3	chr12:51468579..51474515-chr12:51475298..51478642,16	K562	blood:
4	chr12:51475743..51478565-chr12:51589965..51591842,3	MCF-7	breast:
5	chr12:51474365..51478814-chr12:51563597..51568148,9	K562	blood:
6	chr12:51154877..51158479-chr12:51475248..51478841,3	K562	blood:
7	chr12:51476335..51478466-chr12:51598022..51600514,2	K562	blood:
8	chr12:51474899..51477450-chr12:51661996..51663687,2	K562	blood:
9	chr12:51476081..51477615-chr12:51555734..51558069,2	MCF-7	breast:
10	chr12:51475977..51480172-chr12:51631546..51634625,6	K562	blood:
11	chr12:51429769..51432512-chr12:51476102..51478161,2	K562	blood:
12	chr12:51419463..51422870-chr12:51476162..51478400,3	K562	blood:
13	chr12:51475968..51477695-chr12:51663580..51665438,2	MCF-7	breast:
14	chr12:51475685..51480588-chr12:51631516..51635411,7	K562	blood:
15	chr12:51475893..51478796-chr7:156799468..156802078,2	MCF-7	breast:
16	chr12:51475610..51478830-chr12:51601366..51604899,4	MCF-7	breast:
17	chr12:51476120..51478171-chr12:51663790..51665919,2	MCF-7	breast:
18	chr12:51475046..51479825-chr12:51631265..51637401,17	MCF-7	breast:
19	chr12:51474365..51480004-chr12:51564069..51568503,12	K562	blood:
20	chr12:51473248..51478369-chr12:51498942..51502935,5	MCF-7	breast:
21	chr12:51440271..51447226-chr12:51475135..51479930,16	MCF-7	breast:
22	chr12:51474566..51481175-chr12:51630411..51639813,21	MCF-7	breast:
23	chr12:51449198..51451184-chr12:51475118..51478098,2	K562	blood:
24	chr11:62608959..62610579-chr12:51475660..51478228,2	MCF-7	breast:
25	chr12:51317560..51319540-chr12:51475708..51478523,2	K562	blood:
26	chr12:51417420..51423779-chr12:51473917..51478493,9	MCF-7	breast:
27	chr12:51475900..51479120-chr12:51609514..51613581,8	MCF-7	breast:
28	chr12:51419952..51421943-chr12:51475612..51477490,4	K562	blood:
29	chr12:51475917..51477628-chr12:51596948..51599509,2	MCF-7	breast:
30	chr12:51474677..51478892-chr12:51609953..51613954,8	K562	blood:
31	chr12:51418513..51423622-chr12:51474378..51479071,10	MCF-7	breast:
32	chr12:51475846..51477585-chr12:51782020..51786385,4	MCF-7	breast:
33	chr12:51155753..51160968-chr12:51475872..51478809,5	MCF-7	breast:
34	chr12:51475324..51477948-chr12:51566462..51569488,3	MCF-7	breast:
35	chr12:51475955..51479039-chr12:51590902..51594960,4	K562	blood:
36	chr12:51474348..51478730-chr12:51495114..51501288,7	K562	blood:
37	chr12:51474480..51479024-chr12:51609420..51613050,8	MCF-7	breast:
38	chr12:51440852..51445521-chr12:51475730..51478507,6	MCF-7	breast:
39	chr12:51440588..51444188-chr12:51475774..51478819,7	K562	blood:
40	chr12:51475832..51478799-chr12:51610420..51612899,6	K562	blood:
41	chr12:51440588..51444188-chr12:51475693..51478745,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000139629	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000199824	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000185432	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000244540	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000130675	Chromatin interaction
ENSG00000199903	Chromatin interaction
ENSG00000050438	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	esv3410020	chr12:51475910-51478458	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51475200-51476800	Flanking Active TSS	Dnd41	blood
2	chr12:51475400-51476600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr12:51475400-51476600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:51475400-51476800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:51475400-51477600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr12:51475600-51476600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:51475600-51476600	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr12:51475600-51476600	Enhancers	Stomach Mucosa	stomach
9	chr12:51475600-51476600	Flanking Active TSS	NH-A	brain
10	chr12:51475600-51477000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr12:51475600-51477000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr12:51475600-51477800	Active TSS	HSMM	muscle
13	chr12:51475600-51478000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:51475800-51476600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:51475800-51476600	Flanking Active TSS	Fetal Muscle Leg	muscle
16	chr12:51475800-51476600	Flanking Active TSS	Thymus	Thymus
17	chr12:51475800-51476600	Enhancers	Spleen	Spleen
18	chr12:51475800-51476600	Flanking Active TSS	NHEK	skin
19	chr12:51475800-51476800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:51475800-51476800	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr12:51475800-51476800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr12:51475800-51476800	Flanking Active TSS	Fetal Thymus	thymus
23	chr12:51475800-51476800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr12:51475800-51476800	Flanking Active TSS	GM12878-XiMat	blood
25	chr12:51475800-51476800	Flanking Active TSS	Hela-S3	cervix
26	chr12:51475800-51476800	Flanking Active TSS	HUVEC	blood vessel
27	chr12:51475800-51477000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr12:51475800-51477000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr12:51475800-51477600	Active TSS	Fetal Muscle Trunk	muscle
30	chr12:51476000-51476600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr12:51476000-51476600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr12:51476000-51476600	Flanking Active TSS	A549	lung
33	chr12:51476000-51476800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr12:51476000-51476800	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr12:51476000-51476800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr12:51476000-51476800	Flanking Active TSS	Right Ventricle	heart
37	chr12:51476000-51476800	Flanking Active TSS	K562	blood
38	chr12:51476000-51477000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr12:51476000-51477000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:51476000-51477000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr12:51476000-51477200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr12:51476000-51477600	Active TSS	Rectal Smooth Muscle	rectum
43	chr12:51476000-51477800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:51476000-51477800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:51476000-51477800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:51476000-51477800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr12:51476200-51476600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:51476200-51476600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:51476200-51476600	Flanking Active TSS	Colonic Mucosa	Colon
50	chr12:51476200-51476600	Flanking Active TSS	Placenta	Placenta

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