Variant report

Variant	rs16960905
Chromosome Location	chr17:63182059-63182060
allele	C/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	CTCF	chr17:63181920-63182070	HCM	heart:	n/a	n/a
2	EP300	chr17:63179682-63182280	SK-N-SH	brain:	n/a	chr17:63180252-63180266 chr17:63180019-63180029
3	CTCF	chr17:63181960-63182110	K562	blood:	n/a	n/a
4	GATA2	chr17:63181079-63182143	SH-SY5Y	brain:	n/a	n/a
5	CTCF	chr17:63181960-63182110	MCF-7	breast:	n/a	n/a
6	CTCF	chr17:63181830-63182230	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr17:63181779-63182074	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr17:63181699-63182143	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr17:63181920-63182070	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr17:63181920-63182070	GM12872	blood:	n/a	n/a
11	CTCF	chr17:63181940-63182090	HepG2	liver:	n/a	n/a
12	CTCF	chr17:63181896-63182161	K562	blood:	n/a	n/a
13	YY1	chr17:63181852-63182131	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr17:63181920-63182070	BE2_C	brain:	n/a	n/a
15	CTCF	chr17:63181840-63182110	AG04450	lung:	n/a	n/a
16	RAD21	chr17:63181807-63182167	SK-N-SH_RA	brain:	n/a	n/a
17	POLR2A	chr17:63181722-63182256	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr17:63181884-63182071	K562	blood:	n/a	n/a
19	CTCF	chr17:63181920-63182070	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr17:63181765-63182112	K562	blood:	n/a	n/a
21	RAD21	chr17:63181797-63182104	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr17:63181897-63182120	K562	blood:	n/a	n/a

Variant related genes	Relation type
RGS9	TF binding region
ENSG00000265883	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10514867	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11650746	0.94[ASN][1000 genomes]
rs11651062	0.94[ASN][1000 genomes]
rs11651081	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654243	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654391	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11657250	0.94[ASN][1000 genomes]
rs11658655	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11658673	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658736	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658773	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1514500	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16960903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960957	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16961015	1.00[CHB][hapmap]
rs16961273	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs28451574	0.81[ASN][1000 genomes]
rs28525077	0.81[ASN][1000 genomes]
rs2869578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869579	0.94[ASN][1000 genomes]
rs2869580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2869582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2869584	0.94[ASN][1000 genomes]
rs4293415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588019	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4791220	0.90[CEU][hapmap]
rs4791223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4791227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4791228	0.80[EUR][1000 genomes]
rs55948632	0.81[ASN][1000 genomes]
rs55948933	0.94[ASN][1000 genomes]
rs56102951	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59173947	0.81[ASN][1000 genomes]
rs61708414	0.81[ASN][1000 genomes]
rs7207726	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs7211341	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215502	0.94[ASN][1000 genomes]
rs7217524	1.00[JPT][hapmap]
rs7217548	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7218518	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7220710	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7220949	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7221103	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73330407	0.87[ASN][1000 genomes]
rs73347632	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8065438	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8065444	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8065725	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8066063	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8066072	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8068016	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8071603	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8072543	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8072633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8080929	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs908089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9889653	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9896245	1.00[CEU][hapmap]
rs9897592	1.00[CEU][hapmap]
rs9898825	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9900568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9900709	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9901108	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9904207	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9907146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9907374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9908359	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs9914418	0.94[ASN][1000 genomes]
rs9914790	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9916092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9916525	0.81[CEU][hapmap]
rs9916789	0.94[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	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63169800-63190800	Weak transcription	Gastric	stomach
2	chr17:63176400-63223800	Weak transcription	Lung	lung
3	chr17:63178800-63182200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:63179000-63183000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr17:63179400-63182200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr17:63179400-63182600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr17:63179600-63182200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:63179600-63182200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:63179600-63182200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr17:63179600-63182200	Enhancers	Fetal Brain Male	brain
11	chr17:63179600-63183000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:63179800-63182200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr17:63179800-63182200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:63179800-63182200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr17:63180000-63194600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:63180400-63182200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr17:63180400-63182200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:63180600-63182200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr17:63180600-63182200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr17:63180600-63182200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr17:63180600-63186800	Weak transcription	Colon Smooth Muscle	Colon
22	chr17:63180600-63194800	Weak transcription	Brain Hippocampus Middle	brain
23	chr17:63180800-63186600	Weak transcription	Brain Anterior Caudate	brain
24	chr17:63181000-63182200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr17:63181200-63187400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr17:63181200-63192800	Weak transcription	Dnd41	blood
27	chr17:63181200-63197400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr17:63181400-63182200	Enhancers	Fetal Stomach	stomach
29	chr17:63181400-63184400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr17:63181600-63183000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr17:63181600-63186800	Weak transcription	HSMMtube	muscle
32	chr17:63181600-63189400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr17:63181800-63209600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr17:63182000-63182200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr17:63182000-63182200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr17:63182000-63182600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:63182000-63182800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr17:63182000-63186800	Weak transcription	A549	lung

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