Variant report

Variant	rs901994
Chromosome Location	chr11:46382447-46382448
allele	A/G
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	POLR2A	chr11:46382446-46383509	GM12878	blood:	n/a	n/a
2	MTA3	chr11:46382283-46384056	GM12878	blood:	n/a	n/a
3	BHLHE40	chr11:46382419-46383284	GM12878	blood:	n/a	chr11:46383181-46383197
4	MTA3	chr11:46382440-46383218	GM12878	blood:	n/a	n/a
5	WRNIP1	chr11:46382443-46382739	GM12878	blood:	n/a	n/a
6	MYC	chr11:46382435-46383308	NB4	blood:	n/a	n/a
7	NR2F2	chr11:46382324-46383356	K562	blood:	n/a	n/a
8	POLR2A	chr11:46382287-46383446	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:46382342-46386023	HL-60	blood:	n/a	n/a
10	POLR2A	chr11:46382326-46383370	HL-60	blood:	n/a	n/a
11	RCOR1	chr11:46382443-46382643	K562	blood:	n/a	n/a

Variant related genes	Relation type
DGKZ	TF binding region

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs33968054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34830450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4367921	0.93[AFR][1000 genomes]
rs73466006	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73466016	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73466027	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs901995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs901998	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46370000-46384000	Weak transcription	Fetal Kidney	kidney
2	chr11:46370000-46395800	Weak transcription	Aorta	Aorta
3	chr11:46370400-46384000	Weak transcription	A549	lung
4	chr11:46370600-46382600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:46370800-46382600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:46370800-46382800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:46373800-46382600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:46374200-46382600	Weak transcription	Fetal Intestine Large	intestine
9	chr11:46374200-46384400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:46374400-46389600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:46374400-46389600	Weak transcription	Fetal Brain Female	brain
12	chr11:46374600-46382600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:46375800-46382600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:46376000-46389600	Weak transcription	Brain Germinal Matrix	brain
15	chr11:46378600-46382600	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:46378600-46382800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:46378600-46389400	Weak transcription	HepG2	liver
18	chr11:46379200-46382600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:46379200-46382600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:46379200-46382800	Weak transcription	Gastric	stomach
21	chr11:46379400-46382600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:46379400-46382600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:46379400-46382600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:46379400-46382800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:46379400-46383600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:46379600-46382600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:46379600-46382600	Weak transcription	Colonic Mucosa	Colon
28	chr11:46379600-46382600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:46379600-46382800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:46379600-46384000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:46379600-46384000	Weak transcription	NHEK	skin
32	chr11:46379800-46382600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:46379800-46382800	Weak transcription	Pancreas	Pancrea
34	chr11:46380000-46382600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr11:46381400-46382800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:46381400-46386000	Enhancers	NHDF-Ad	bronchial
37	chr11:46381600-46382600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr11:46381800-46382600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr11:46381800-46382600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:46381800-46382800	Enhancers	Fetal Muscle Leg	muscle
41	chr11:46382000-46382600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:46382000-46382600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:46382000-46382600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr11:46382000-46382600	Enhancers	Fetal Muscle Trunk	muscle
45	chr11:46382000-46383600	Weak transcription	Hela-S3	cervix
46	chr11:46382200-46382600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr11:46382200-46382600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr11:46382200-46382600	Enhancers	Right Ventricle	heart
49	chr11:46382200-46382800	Enhancers	Fetal Stomach	stomach
50	chr11:46382200-46383200	Enhancers	Placenta	Placenta

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