Variant report

Variant	rs11068158
Chromosome Location	chr12:117147593-117147594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117146942..117149806-chr12:117158509..117160408,2	K562	blood:
2	chr12:117145528..117148245-chr12:117152693..117154607,2	K562	blood:
3	chr12:117145990..117148550-chr12:117156531..117158222,2	K562	blood:
4	chr12:116827495..116829814-chr12:117147036..117149780,2	MCF-7	breast:
5	chr12:117140715..117144764-chr12:117146137..117149297,3	MCF-7	breast:
6	chr12:117146918..117148489-chr12:117291432..117293697,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111412	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10507273	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs11068156	0.94[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11068157	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068160	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11068161	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12819414	0.89[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2101869	0.81[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs4767439	1.00[CEU][hapmap];0.86[YRI][hapmap];0.91[EUR][1000 genomes]
rs4767440	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs756120	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[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	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117141600-117150000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:117144800-117148800	Enhancers	Fetal Thymus	thymus
3	chr12:117144800-117149000	Enhancers	Thymus	Thymus
4	chr12:117146200-117149000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:117146200-117152000	Weak transcription	Spleen	Spleen
6	chr12:117146400-117147600	Flanking Active TSS	Brain Cingulate Gyrus	brain
7	chr12:117146400-117147600	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr12:117146400-117147600	Enhancers	HSMMtube	muscle
9	chr12:117146400-117147800	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr12:117146400-117147800	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr12:117146400-117148000	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr12:117146400-117148600	Flanking Active TSS	Fetal Brain Female	brain
13	chr12:117146400-117149000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:117146600-117147600	Enhancers	Psoas Muscle	Psoas
15	chr12:117146600-117147800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:117146600-117148200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:117146600-117148400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:117147000-117147600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
19	chr12:117147000-117147600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:117147000-117147800	Bivalent Enhancer	Fetal Kidney	kidney
21	chr12:117147000-117148800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:117147000-117150000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:117147200-117147600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:117147200-117147600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr12:117147200-117147600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
26	chr12:117147200-117147600	Bivalent Enhancer	Fetal Brain Male	brain
27	chr12:117147200-117147600	Bivalent Enhancer	NHDF-Ad	bronchial
28	chr12:117147200-117147800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
29	chr12:117147200-117147800	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr12:117147200-117148600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:117147200-117148800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:117147200-117148800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:117147200-117150200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:117147200-117153000	Weak transcription	Left Ventricle	heart
35	chr12:117147200-117153000	Weak transcription	HepG2	liver
36	chr12:117147200-117153400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:117147200-117153800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:117147200-117155200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:117147200-117155400	Weak transcription	Right Atrium	heart
40	chr12:117147200-117155800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:117147200-117155800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:117147200-117156400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:117147200-117174000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:117147400-117147600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:117147400-117147600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:117147400-117147600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:117147400-117147600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:117147400-117147600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr12:117147400-117147600	Enhancers	Hela-S3	cervix
50	chr12:117147400-117147800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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