Variant report

Variant	rs11651081
Chromosome Location	chr17:63181123-63181124
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	EP300	chr17:63179682-63182280	SK-N-SH	brain:	n/a	chr17:63180252-63180266 chr17:63180019-63180029
2	YY1	chr17:63180961-63181628	SK-N-SH_RA	brain:	n/a	n/a
3	GATA2	chr17:63181079-63182143	SH-SY5Y	brain:	n/a	n/a
4	POLR2A	chr17:63181087-63181584	SK-N-SH	brain:	n/a	n/a
5	YY1	chr17:63181085-63181750	SK-N-SH_RA	brain:	n/a	n/a
6	GATA3	chr17:63180983-63181898	SK-N-SH	brain:	n/a	n/a
7	EP300	chr17:63181067-63181678	SK-N-SH_RA	brain:	n/a	n/a
8	TCF12	chr17:63180941-63181852	SK-N-SH	brain:	n/a	chr17:63181566-63181574
9	EP300	chr17:63181016-63181607	SK-N-SH_RA	brain:	n/a	n/a
10	PBX3	chr17:63181105-63181698	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr17:63181070-63181724	SK-N-SH	brain:	n/a	n/a
12	TCF12	chr17:63180941-63181757	SK-N-SH	brain:	n/a	chr17:63181566-63181574

Variant related genes	Relation type
RGS9	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10514867	0.94[ASN][1000 genomes]
rs11650746	0.94[ASN][1000 genomes]
rs11651062	0.94[ASN][1000 genomes]
rs11654243	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654391	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11657250	0.94[ASN][1000 genomes]
rs11658655	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11658673	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658736	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658773	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1514500	0.81[ASN][1000 genomes]
rs16960903	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960905	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960920	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960957	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16961273	0.94[ASN][1000 genomes]
rs28451574	0.81[ASN][1000 genomes]
rs28525077	0.81[ASN][1000 genomes]
rs2869578	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869579	0.94[ASN][1000 genomes]
rs2869580	0.94[ASN][1000 genomes]
rs2869582	0.94[ASN][1000 genomes]
rs2869584	0.94[ASN][1000 genomes]
rs4293415	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588019	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4791223	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4791227	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4791228	0.81[EUR][1000 genomes]
rs55948632	0.81[ASN][1000 genomes]
rs55948933	0.94[ASN][1000 genomes]
rs56102951	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59173947	0.81[ASN][1000 genomes]
rs61708414	0.81[ASN][1000 genomes]
rs7207726	0.84[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]
rs7220710	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7220949	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7221103	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73330407	0.87[ASN][1000 genomes]
rs73347632	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8065725	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8071603	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8072543	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8072633	0.94[ASN][1000 genomes]
rs8080929	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs908089	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925674	0.88[ASN][1000 genomes]
rs9889653	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9900568	0.94[ASN][1000 genomes]
rs9900709	0.94[ASN][1000 genomes]
rs9904207	0.81[ASN][1000 genomes]
rs9907146	0.94[ASN][1000 genomes]
rs9907374	0.87[ASN][1000 genomes]
rs9908359	0.87[ASN][1000 genomes]
rs9914418	0.94[ASN][1000 genomes]
rs9914790	0.94[ASN][1000 genomes]
rs9916092	0.94[ASN][1000 genomes]
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:55 , 50 per page) page: 1 2

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	chr17:63178000-63181600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr17:63178400-63181200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:63178400-63181200	Enhancers	HUVEC	blood vessel
6	chr17:63178800-63181400	Weak transcription	K562	blood
7	chr17:63178800-63182000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:63178800-63182200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:63179000-63183000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:63179200-63182000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:63179400-63182200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr17:63179400-63182600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr17:63179600-63181200	Enhancers	Stomach Smooth Muscle	stomach
14	chr17:63179600-63181200	Enhancers	HSMM	muscle
15	chr17:63179600-63181400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:63179600-63181600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:63179600-63181600	Enhancers	HSMMtube	muscle
18	chr17:63179600-63182200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:63179600-63182200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:63179600-63182200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr17:63179600-63182200	Enhancers	Fetal Brain Male	brain
22	chr17:63179600-63183000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:63179800-63181200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr17:63179800-63181200	Enhancers	Ovary	ovary
25	chr17:63179800-63181400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr17:63179800-63181400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr17:63179800-63181600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr17:63179800-63181600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr17:63179800-63181800	Enhancers	Rectal Smooth Muscle	rectum
30	chr17:63179800-63182200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr17:63179800-63182200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr17:63179800-63182200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr17:63180000-63194600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:63180200-63181400	Weak transcription	Fetal Stomach	stomach
35	chr17:63180400-63181200	Enhancers	Brain Angular Gyrus	brain
36	chr17:63180400-63181200	Enhancers	Brain Substantia Nigra	brain
37	chr17:63180400-63182200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr17:63180400-63182200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:63180600-63181200	Enhancers	Dnd41	blood
40	chr17:63180600-63181600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr17:63180600-63182000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr17:63180600-63182000	Enhancers	A549	lung
43	chr17:63180600-63182200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr17:63180600-63182200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr17:63180600-63182200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr17:63180600-63186800	Weak transcription	Colon Smooth Muscle	Colon
47	chr17:63180600-63194800	Weak transcription	Brain Hippocampus Middle	brain
48	chr17:63180800-63181200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr17:63180800-63182000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr17:63180800-63186600	Weak transcription	Brain Anterior Caudate	brain

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