Variant report

Variant	rs12230564
Chromosome Location	chr12:116997313-116997314
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:116971915..116975712-chr12:116994698..116997472,3	MCF-7	breast:
2	chr12:116870822..116873673-chr12:116997281..116998903,2	MCF-7	breast:
3	chr12:116968953..116973759-chr12:116995509..116998903,7	K562	blood:
4	chr12:116997056..116999076-chr12:122230249..122232872,2	K562	blood:

Variant related genes	Relation type
ENSG00000196668	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10850664	0.82[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850665	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068069	0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8181730	0.90[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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	nsv899540	chr12:116920503-116999861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116994600-116997400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:116994800-116997400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr12:116995200-116997600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr12:116995200-116999600	Enhancers	Fetal Muscle Leg	muscle
5	chr12:116995400-116998000	Enhancers	Fetal Intestine Small	intestine
6	chr12:116995600-116998400	Enhancers	Fetal Muscle Trunk	muscle
7	chr12:116996000-116998000	Enhancers	Fetal Intestine Large	intestine
8	chr12:116996200-116997400	Flanking Active TSS	K562	blood
9	chr12:116996200-116997800	Flanking Active TSS	Dnd41	blood
10	chr12:116996200-116998000	Flanking Active TSS	Fetal Thymus	thymus
11	chr12:116996400-116997400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr12:116996400-116997400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr12:116996400-116997400	Flanking Active TSS	GM12878-XiMat	blood
14	chr12:116996400-116997400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr12:116996400-116997600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr12:116996400-116997600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:116996400-116997600	Flanking Active TSS	HSMMtube	muscle
18	chr12:116996400-116997800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:116996400-116997800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr12:116996400-116997800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:116996400-116997800	Enhancers	Placenta	Placenta
22	chr12:116996400-116997800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:116996400-116997800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr12:116996400-116997800	Enhancers	Stomach Mucosa	stomach
25	chr12:116996400-116997800	Enhancers	NH-A	brain
26	chr12:116996400-116998000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:116996400-116998000	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr12:116996400-116998000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr12:116996600-116997400	Enhancers	Brain Cingulate Gyrus	brain
30	chr12:116996600-116997400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr12:116996600-116997400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr12:116996600-116997600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:116996600-116997800	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr12:116996600-116997800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:116996600-116997800	Enhancers	Fetal Stomach	stomach
36	chr12:116996600-116997800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr12:116996600-116997800	Flanking Active TSS	HSMM	muscle
38	chr12:116996600-116998000	Enhancers	Small Intestine	intestine
39	chr12:116996800-116997400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:116996800-116997600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr12:116996800-116997600	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr12:116996800-116997600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr12:116996800-116997800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr12:116996800-116997800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:116996800-116997800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr12:116996800-116997800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr12:116996800-116997800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:116996800-116997800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:116996800-116997800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:116996800-116997800	Enhancers	Hela-S3	cervix

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