Variant report

Variant	rs11068072
Chromosome Location	chr12:116996085-116996086
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr12:116995868-116996473	K562	blood:	n/a	n/a
2	POLR2A	chr12:116996062-116997895	GM12892	blood:	n/a	n/a
3	CBX3	chr12:116995979-116996612	K562	blood:	n/a	n/a
4	MAX	chr12:116996016-116996713	K562	blood:	n/a	n/a
5	JUN	chr12:116994320-116997958	K562	blood:	n/a	n/a
6	PML	chr12:116996064-116998114	GM12878	blood:	n/a	chr12:116996828-116996836
7	GATA1	chr12:116996063-116997880	PBDE	blood:	n/a	chr12:116996941-116996950
8	POLR2A	chr12:116996006-116997961	GM12892	blood:	n/a	n/a
9	POLR2A	chr12:116995993-116998010	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:116971915..116975712-chr12:116994698..116997472,3	MCF-7	breast:
2	chr12:116968953..116973759-chr12:116995509..116998903,7	K562	blood:

Variant related genes	Relation type
MAP1LC3B2	TF binding region
ENSG00000196668	Chromatin interaction

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

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

rs_ID	r²[population]
rs10774872	0.86[AMR][1000 genomes]
rs11610226	0.86[AMR][1000 genomes]
rs6490076	0.86[AMR][1000 genomes]
rs7300418	0.80[AMR][1000 genomes]
rs7315385	0.84[AMR][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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116984200-116996800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:116984200-116997000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:116990800-116996400	Weak transcription	Placenta	Placenta
4	chr12:116990800-116996800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:116993000-116997200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:116993400-116996200	Enhancers	Fetal Thymus	thymus
7	chr12:116994200-116996400	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:116994400-116996400	Enhancers	Primary B cells from cord blood	blood
9	chr12:116994400-116996400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:116994400-116996600	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:116994400-116996800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:116994600-116996200	Enhancers	Dnd41	blood
13	chr12:116994600-116997400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:116994800-116996400	Enhancers	Thymus	Thymus
15	chr12:116994800-116996600	Enhancers	HSMM	muscle
16	chr12:116994800-116997000	Enhancers	HMEC	breast
17	chr12:116994800-116997400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr12:116995000-116996400	Weak transcription	Colonic Mucosa	Colon
19	chr12:116995000-116996600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:116995000-116996600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:116995000-116997200	Weak transcription	Fetal Brain Male	brain
22	chr12:116995200-116996800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:116995200-116996800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:116995200-116996800	Enhancers	Spleen	Spleen
25	chr12:116995200-116997000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:116995200-116997000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:116995200-116997600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr12:116995200-116999600	Enhancers	Fetal Muscle Leg	muscle
29	chr12:116995400-116996400	Enhancers	GM12878-XiMat	blood
30	chr12:116995400-116996400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr12:116995400-116997000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr12:116995400-116997000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:116995400-116997200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:116995400-116998000	Enhancers	Fetal Intestine Small	intestine
35	chr12:116995600-116996200	Enhancers	K562	blood
36	chr12:116995600-116996400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr12:116995600-116996400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:116995600-116996400	Enhancers	HSMMtube	muscle
39	chr12:116995600-116996800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:116995600-116996800	Enhancers	Primary T cells from cord blood	blood
41	chr12:116995600-116996800	Weak transcription	Osteobl	bone
42	chr12:116995600-116997200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:116995600-116998400	Enhancers	Fetal Muscle Trunk	muscle
44	chr12:116995800-116996200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:116995800-116996200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:116995800-116996200	Weak transcription	NHEK	skin
47	chr12:116995800-116996400	Weak transcription	NH-A	brain
48	chr12:116996000-116996400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:116996000-116997000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr12:116996000-116997200	Weak transcription	Right Atrium	heart

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