Variant report

Variant	rs7213265
Chromosome Location	chr17:17153018-17153019
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	POLR2A	chr17:17152857-17153060	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
COPS3	TF binding region

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6502567	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7213903	1.00[AMR][1000 genomes]
rs8072407	1.00[AMR][1000 genomes]
rs9652821	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17141600-17161200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:17141800-17155600	Weak transcription	Psoas Muscle	Psoas
3	chr17:17141800-17156600	Weak transcription	Fetal Heart	heart
4	chr17:17141800-17162200	Weak transcription	Stomach Mucosa	stomach
5	chr17:17142000-17153200	Weak transcription	Fetal Brain Male	brain
6	chr17:17146000-17171000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr17:17148400-17160000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:17148600-17159000	Strong transcription	Brain Hippocampus Middle	brain
9	chr17:17148600-17161200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr17:17148600-17167400	Strong transcription	Fetal Intestine Small	intestine
11	chr17:17148600-17172000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr17:17148600-17178800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:17148600-17179200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr17:17148600-17179600	Strong transcription	Fetal Muscle Trunk	muscle
15	chr17:17148600-17180000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:17148800-17153400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr17:17148800-17178400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr17:17148800-17178400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr17:17148800-17179000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr17:17148800-17179600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:17148800-17179600	Strong transcription	Fetal Muscle Leg	muscle
22	chr17:17148800-17179800	Strong transcription	Fetal Stomach	stomach
23	chr17:17148800-17180200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:17148800-17180400	Strong transcription	Fetal Thymus	thymus
25	chr17:17149000-17153400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr17:17149000-17153400	Strong transcription	Left Ventricle	heart
27	chr17:17149000-17153600	Strong transcription	GM12878-XiMat	blood
28	chr17:17149000-17154200	Strong transcription	Ovary	ovary
29	chr17:17149000-17154800	Strong transcription	A549	lung
30	chr17:17149000-17155400	Strong transcription	Liver	Liver
31	chr17:17149000-17156600	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr17:17149000-17156800	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr17:17149000-17156800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr17:17149000-17165200	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr17:17149000-17165600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr17:17149000-17165600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr17:17149000-17165600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:17149000-17165800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr17:17149000-17165800	Strong transcription	Fetal Brain Female	brain
40	chr17:17149000-17166000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr17:17149000-17174800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr17:17149000-17174800	Strong transcription	Adipose Nuclei	Adipose
43	chr17:17149000-17174800	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr17:17149000-17178400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr17:17149000-17178800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr17:17149000-17179200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr17:17149000-17179400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:17149000-17180800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr17:17149000-17181200	Strong transcription	Dnd41	blood
50	chr17:17149200-17154200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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