Variant report

Variant	rs12292547
Chromosome Location	chr11:66376355-66376356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66369958..66372351-chr11:66375858..66377391,2	K562	blood:
2	chr11:66376059..66377728-chr11:66405650..66407534,2	MCF-7	breast:
3	chr11:66366106..66376502-chr11:66378243..66386807,17	K562	blood:
4	chr11:66371248..66380060-chr11:66381222..66386481,17	MCF-7	breast:
5	chr11:66374536..66376477-chr11:66443902..66445864,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239306	Chromatin interaction
ENSG00000173933	Chromatin interaction
ENSG00000199325	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000248643	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11227492	1.00[AMR][1000 genomes]
rs11227528	1.00[AMR][1000 genomes]
rs11227555	0.89[AFR][1000 genomes]
rs28464796	1.00[AMR][1000 genomes]
rs57971185	1.00[AMR][1000 genomes]
rs73505427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66361400-66382800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:66361400-66383400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:66361600-66377000	Weak transcription	HUVEC	blood vessel
4	chr11:66362200-66377200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:66363000-66377200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:66363200-66383200	Weak transcription	Fetal Kidney	kidney
7	chr11:66363400-66382800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:66363400-66383200	Weak transcription	Fetal Brain Male	brain
9	chr11:66363600-66377200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:66363800-66377400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr11:66367400-66383400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:66370800-66377400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:66372400-66377400	Weak transcription	K562	blood
14	chr11:66373000-66382600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:66373200-66376400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:66373400-66383400	Weak transcription	Aorta	Aorta
17	chr11:66373600-66382800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:66373600-66382800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:66373600-66383000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:66373800-66376800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr11:66373800-66377200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:66373800-66382200	Weak transcription	Dnd41	blood
23	chr11:66373800-66382800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:66373800-66383200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:66373800-66383400	Weak transcription	Lung	lung
26	chr11:66374000-66377200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:66374000-66377200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:66374000-66377200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:66374000-66383200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:66374000-66383200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:66374200-66377200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:66374200-66381400	Weak transcription	Gastric	stomach
33	chr11:66374200-66382600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:66374200-66383000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:66374200-66383200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:66374200-66383400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:66374400-66380800	Enhancers	Primary B cells from peripheral blood	blood
38	chr11:66374600-66376600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr11:66374800-66377000	Enhancers	Colon Smooth Muscle	Colon
40	chr11:66374800-66377200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:66374800-66377200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:66374800-66382800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:66374800-66383200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:66374800-66383200	Weak transcription	Fetal Brain Female	brain
45	chr11:66375000-66376400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:66375000-66377400	Weak transcription	Spleen	Spleen
47	chr11:66375000-66377400	Weak transcription	HSMM	muscle
48	chr11:66375000-66377800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:66375000-66382800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr11:66375000-66382800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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