Variant report

Variant	rs12273290
Chromosome Location	chr11:46361978-46361979
allele	C/G/T
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	SMARCB1	chr11:46360154-46362001	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:46360613..46364094-chr11:46365377..46370490,6	K562	blood:
2	chr11:46360426..46363689-chr11:46381932..46385734,3	MCF-7	breast:
3	chr11:46357957..46360303-chr11:46360365..46362411,2	MCF-7	breast:
4	chr11:46360798..46363911-chr11:46367440..46369657,3	MCF-7	breast:

Variant related genes	Relation type
DGKZ	TF binding region
ENSG00000149091	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10838596	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10838601	0.81[EUR][1000 genomes]
rs11038866	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11038871	0.84[AMR][1000 genomes]
rs4565870	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7476	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46356400-46363000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:46356400-46366400	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr11:46356400-46366600	Enhancers	Fetal Thymus	thymus
4	chr11:46357200-46362400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:46357400-46366400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr11:46357600-46363000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:46358000-46362800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:46358000-46363600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr11:46358200-46363200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:46358800-46366400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr11:46359200-46365800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr11:46359400-46362200	Enhancers	Lung	lung
13	chr11:46359400-46366600	Enhancers	Primary hematopoietic stem cells	blood
14	chr11:46359600-46362000	Flanking Active TSS	Hela-S3	cervix
15	chr11:46359600-46363600	Enhancers	Fetal Heart	heart
16	chr11:46359800-46362000	Enhancers	Fetal Brain Male	brain
17	chr11:46359800-46362000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr11:46360000-46362000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:46360000-46362200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:46360000-46362400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr11:46360200-46362000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:46360200-46362000	Enhancers	Liver	Liver
23	chr11:46360200-46362200	Enhancers	Fetal Lung	lung
24	chr11:46360200-46362200	Enhancers	Fetal Stomach	stomach
25	chr11:46360200-46362600	Enhancers	Fetal Muscle Leg	muscle
26	chr11:46360600-46362000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr11:46360600-46363200	Enhancers	Primary T cells from cord blood	blood
28	chr11:46360600-46363200	Weak transcription	Fetal Kidney	kidney
29	chr11:46360800-46362000	Enhancers	Brain Angular Gyrus	brain
30	chr11:46360800-46362000	Enhancers	Fetal Intestine Small	intestine
31	chr11:46360800-46362200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:46360800-46362200	Enhancers	Fetal Intestine Large	intestine
33	chr11:46360800-46362200	Enhancers	Psoas Muscle	Psoas
34	chr11:46360800-46362600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:46360800-46362600	Enhancers	Left Ventricle	heart
36	chr11:46360800-46363200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:46360800-46363200	Weak transcription	HUVEC	blood vessel
38	chr11:46360800-46363600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:46360800-46364200	Enhancers	Right Atrium	heart
40	chr11:46360800-46366400	Weak transcription	Brain Substantia Nigra	brain
41	chr11:46360800-46366600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr11:46360800-46367000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr11:46360800-46368000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr11:46361000-46362000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr11:46361000-46362200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:46361000-46362200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:46361000-46362600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:46361000-46363200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr11:46361000-46363800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:46361000-46364200	Enhancers	Right Ventricle	heart

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