Variant report

Variant	rs73990212
Chromosome Location	chr17:33933197-33933198
allele	A/C
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	TCF12	chr17:33932834-33933222	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
AP2B1	TF binding region

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55864203	0.94[AFR][1000 genomes]
rs60582120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60841383	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61560017	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73990221	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73990224	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73990261	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73990268	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73990290	0.94[AFR][1000 genomes]
rs73990291	0.94[AFR][1000 genomes]
rs73990295	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33915600-33954600	Weak transcription	Small Intestine	intestine
2	chr17:33916000-33942000	Weak transcription	Right Atrium	heart
3	chr17:33916400-33944800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr17:33916800-33945400	Weak transcription	Stomach Mucosa	stomach
5	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr17:33917600-33934600	Weak transcription	Brain Angular Gyrus	brain
7	chr17:33919400-33940000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:33920000-33937400	Strong transcription	A549	lung
9	chr17:33920400-33936400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:33920600-33939800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr17:33920600-33939800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr17:33920600-33939800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:33920600-33940000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr17:33920600-33940200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr17:33920600-33942200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:33920600-33942800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:33920600-33944000	Strong transcription	Dnd41	blood
18	chr17:33920600-33969800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr17:33920800-33938400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr17:33920800-33975800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr17:33921000-33937200	Strong transcription	Placenta	Placenta
22	chr17:33921000-33939800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr17:33921000-33939800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:33921000-33940400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr17:33921000-33941400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:33921000-33942200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr17:33921000-33943000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr17:33921000-33946200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr17:33921000-33946600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:33921200-33933200	Strong transcription	NHEK	skin
32	chr17:33921200-33939600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr17:33921200-33939800	Strong transcription	Primary T cells from cord blood	blood
34	chr17:33921200-33939800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr17:33921200-33940000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr17:33921200-33940000	Strong transcription	Adipose Nuclei	Adipose
37	chr17:33921600-33939400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr17:33921800-33938600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr17:33921800-33939800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr17:33921800-33939800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr17:33921800-33944000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr17:33922000-33938800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:33923800-33940600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr17:33924000-33937400	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr17:33924200-33934600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr17:33924200-33936600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:33924600-33937200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr17:33924600-33939800	Strong transcription	Liver	Liver
49	chr17:33924600-33941400	Weak transcription	Psoas Muscle	Psoas
50	chr17:33925400-33933600	Strong transcription	Fetal Intestine Large	intestine

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