Variant report

Variant	rs16951065
Chromosome Location	chr17:50236193-50236194
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	MAX	chr17:50235120-50236480	H1-hESC	embryonic stem cell:	n/a	chr17:50236179-50236190
2	YY1	chr17:50235874-50236435	H1-hESC	embryonic stem cell:	n/a	chr17:50236363-50236377 chr17:50236338-50236352 chr17:50236196-50236205 chr17:50236338-50236347 chr17:50236370-50236384 chr17:50236238-50236252
3	RAD21	chr17:50234718-50236428	SK-N-SH	brain:	n/a	chr17:50235805-50235819
4	RAD21	chr17:50235904-50236242	SK-N-SH_RA	brain:	n/a	n/a
5	ZNF143	chr17:50235597-50236269	H1-hESC	embryonic stem cell:	n/a	chr17:50236222-50236240
6	SIN3A	chr17:50235229-50236733	H1-hESC	embryonic stem cell:	n/a	chr17:50236213-50236226
7	EGR1	chr17:50235938-50236531	H1-hESC	embryonic stem cell:	n/a	chr17:50236368-50236379 chr17:50236367-50236380 chr17:50236368-50236378 chr17:50236367-50236380 chr17:50236362-50236384 chr17:50236366-50236380 chr17:50236367-50236380 chr17:50236242-50236255
8	RAD21	chr17:50235843-50236274	SK-N-SH_RA	brain:	n/a	n/a
9	MXI1	chr17:50236031-50236352	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr17:50235954-50236198	H1-hESC	embryonic stem cell:	n/a	n/a
11	TCF12	chr17:50236016-50236340	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr17:50235499-50236454	H1-hESC	embryonic stem cell:	n/a	chr17:50235805-50235819
13	JUND	chr17:50235913-50236454	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr17:50235833-50236252	H1-hESC	embryonic stem cell:	n/a	chr17:50236237-50236247 chr17:50236235-50236248
15	POLR2A	chr17:50235161-50236463	H1-neurons	neurons:	n/a	n/a
16	RAD21	chr17:50235831-50236324	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr17:50235966-50236344	H1-hESC	embryonic stem cell:	n/a	chr17:50236261-50236271
18	CTCF	chr17:50235958-50236238	NHEK	skin:	n/a	n/a
19	CTCF	chr17:50235848-50236268	H1-hESC	embryonic stem cell:	n/a	chr17:50236237-50236247 chr17:50236235-50236248
20	REST	chr17:50235620-50236480	H1-neurons	neurons:	n/a	chr17:50235705-50235718 chr17:50236213-50236226
21	CTBP2	chr17:50235074-50237787	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZNF263	chr17:50235690-50236902	HEK293-T-REx	kidney:	n/a	chr17:50236301-50236310 chr17:50236292-50236301 chr17:50236295-50236304 chr17:50236290-50236311 chr17:50236698-50236707 chr17:50236298-50236307
23	GATA2	chr17:50235086-50236599	SH-SY5Y	brain:	n/a	n/a
24	RAD21	chr17:50235784-50236294	H1-hESC	embryonic stem cell:	n/a	chr17:50235805-50235819
25	POLR2A	chr17:50235580-50236286	H1-neurons	neurons:	n/a	n/a
26	MAX	chr17:50235988-50236512	H1-hESC	embryonic stem cell:	n/a	chr17:50236179-50236190

Variant related genes	Relation type
CA10	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1027679	0.81[AMR][1000 genomes]
rs11650738	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11655715	0.92[CEU][hapmap];0.84[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16951034	0.85[ASN][1000 genomes]
rs5010295	0.93[CEU][hapmap];0.84[CHB][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492317	chr17:50067819-50774475	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50233800-50236600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr17:50233800-50237800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
3	chr17:50234200-50236400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
4	chr17:50234200-50237800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr17:50234400-50236600	Bivalent Enhancer	Fetal Brain Male	brain
6	chr17:50234400-50238000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr17:50234600-50237400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr17:50234600-50237800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr17:50234600-50238000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr17:50234600-50238000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr17:50234800-50236600	Active TSS	Brain Angular Gyrus	brain
12	chr17:50234800-50236800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
13	chr17:50234800-50237800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:50235000-50236800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:50235000-50237800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr17:50235000-50237800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
17	chr17:50235200-50236400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
18	chr17:50235200-50236600	Flanking Bivalent TSS/Enh	HMEC	breast
19	chr17:50235200-50236800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:50235200-50236800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:50235200-50237000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
22	chr17:50235200-50237200	Enhancers	Pancreas	Pancrea
23	chr17:50235400-50236400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:50235400-50236400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr17:50235400-50236400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
26	chr17:50235400-50236400	Bivalent Enhancer	Liver	Liver
27	chr17:50235400-50236400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
28	chr17:50235400-50236800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr17:50235400-50237200	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr17:50235400-50237600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr17:50235400-50237600	ZNF genes & repeats	Spleen	Spleen
32	chr17:50235400-50237800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr17:50235600-50236200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:50235600-50236400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr17:50235600-50236400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr17:50235600-50236600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
37	chr17:50235800-50236200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:50235800-50236400	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr17:50235800-50236400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
40	chr17:50235800-50236400	Active TSS	Gastric	stomach
41	chr17:50235800-50236600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:50235800-50236800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr17:50235800-50237000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr17:50235800-50237800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr17:50236000-50236200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:50236000-50236200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr17:50236000-50236200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
48	chr17:50236000-50236200	Bivalent Enhancer	Fetal Stomach	stomach
49	chr17:50236000-50236400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr17:50236000-50236400	Bivalent/Poised TSS	NHEK	skin

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