Variant report

Variant	rs72910075
Chromosome Location	chr11:46359645-46359646
allele	C/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	ZNF384	chr11:46359300-46359659	K562	blood:	n/a	n/a
2	FOS	chr11:46359286-46359670	MCF10A-Er-Src	breast:	n/a	chr11:46359370-46359382 chr11:46359372-46359379 chr11:46359373-46359384 chr11:46359371-46359381 chr11:46359371-46359380 chr11:46359371-46359381 chr11:46359372-46359381

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46315321..46317782-chr11:46358888..46360388,2	K562	blood:
2	chr11:46358868..46360794-chr11:46368407..46370505,3	MCF-7	breast:

Variant related genes	Relation type
DGKZ	TF binding region
ENSG00000157613	Chromatin interaction
ENSG00000149091	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72910057	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72910063	0.81[EUR][1000 genomes]
rs72910071	1.00[AMR][1000 genomes];0.97[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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46355200-46360200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:46355200-46360200	Weak transcription	Pancreas	Pancrea
3	chr11:46355200-46360600	Weak transcription	Gastric	stomach
4	chr11:46355800-46360400	Enhancers	Placenta	Placenta
5	chr11:46356000-46360200	Weak transcription	Spleen	Spleen
6	chr11:46356400-46360400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:46356400-46360400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:46356400-46360400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:46356400-46360600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:46356400-46360600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:46356400-46363000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:46356400-46366400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr11:46356400-46366600	Enhancers	Fetal Thymus	thymus
14	chr11:46356600-46360200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr11:46356800-46361000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:46357000-46360200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr11:46357000-46360200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr11:46357200-46360000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:46357200-46360200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr11:46357200-46360200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr11:46357200-46362400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:46357400-46360000	Weak transcription	Brain Angular Gyrus	brain
23	chr11:46357400-46360000	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:46357400-46360200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:46357400-46360200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:46357400-46360400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr11:46357400-46361400	Enhancers	Primary B cells from cord blood	blood
28	chr11:46357400-46361600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:46357400-46366400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr11:46357600-46360000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:46357600-46360600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:46357600-46363000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr11:46357800-46360000	Weak transcription	NHEK	skin
34	chr11:46357800-46360200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr11:46357800-46360200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:46358000-46360000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:46358000-46360200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr11:46358000-46360200	Weak transcription	Fetal Brain Female	brain
39	chr11:46358000-46360400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr11:46358000-46360400	Enhancers	K562	blood
41	chr11:46358000-46361000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:46358000-46362800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:46358000-46363600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr11:46358200-46360000	Weak transcription	NHDF-Ad	bronchial
45	chr11:46358200-46363200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:46358400-46359800	Weak transcription	Fetal Brain Male	brain
47	chr11:46358400-46360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:46358400-46360200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:46358400-46360200	Enhancers	Adipose Nuclei	Adipose
50	chr11:46358600-46360000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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