Variant report

Variant	rs11048208
Chromosome Location	chr12:9108874-9108875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9102147..9104333-chr12:9105347..9108888,4	MCF-7	breast:
2	chr12:9102428..9104198-chr12:9107371..9109870,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000003056	Chromatin interaction
ENSG00000139187	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11048241	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048353	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11494758	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11834163	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12371962	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12426857	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1805726	0.87[EUR][1000 genomes]
rs1805728	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1805730	0.85[EUR][1000 genomes]
rs1805731	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4140911	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55939602	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7296295	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs887783	0.81[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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9103000-9109400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:9103400-9112000	Weak transcription	Pancreas	Pancrea
3	chr12:9103400-9116400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:9103600-9110400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:9103600-9114000	Weak transcription	Fetal Kidney	kidney
6	chr12:9103600-9114200	Weak transcription	Aorta	Aorta
7	chr12:9103600-9114400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:9103600-9114600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:9104000-9110400	Weak transcription	A549	lung
10	chr12:9104000-9111000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:9104000-9113200	Weak transcription	HepG2	liver
12	chr12:9104000-9114400	Weak transcription	Psoas Muscle	Psoas
13	chr12:9104400-9111200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:9104600-9110400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:9104600-9113800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:9104800-9109600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr12:9105000-9113600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:9105000-9113800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:9106600-9109400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:9106600-9116000	Weak transcription	Left Ventricle	heart
21	chr12:9106800-9109400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr12:9106800-9110600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:9106800-9112200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:9106800-9114400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr12:9106800-9114600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:9107000-9110200	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:9107000-9111200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:9107200-9112800	Enhancers	Primary T cells from cord blood	blood
29	chr12:9107200-9112800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:9107400-9112600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr12:9107400-9112600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr12:9107400-9112800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:9108000-9109000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:9108000-9109000	ZNF genes & repeats	Liver	Liver
35	chr12:9108000-9109600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:9108200-9109000	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:9108200-9109000	ZNF genes & repeats	Dnd41	blood
38	chr12:9108200-9109600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:9108200-9110000	ZNF genes & repeats	Brain Germinal Matrix	brain
40	chr12:9108400-9109000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:9108400-9109000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:9108400-9109000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
43	chr12:9108400-9109000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:9108400-9109000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:9108400-9109000	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr12:9108400-9109000	Strong transcription	Right Ventricle	heart
47	chr12:9108400-9109000	ZNF genes & repeats	Thymus	Thymus
48	chr12:9108400-9109200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr12:9108400-9109400	ZNF genes & repeats	Fetal Thymus	thymus
50	chr12:9108600-9109000	ZNF genes & repeats	Primary B cells from cord blood	blood

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