Variant report

Variant	rs56102951
Chromosome Location	chr17:63180660-63180661
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	GATA3	chr17:63180127-63180668	SH-SY5Y	brain:	n/a	chr17:63180208-63180219
2	CTCF	chr17:63180520-63180670	GM12865	blood:	n/a	n/a
3	EP300	chr17:63179682-63182280	SK-N-SH	brain:	n/a	chr17:63180252-63180266 chr17:63180019-63180029
4	E2F6	chr17:63179784-63180759	H1-hESC	embryonic stem cell:	n/a	n/a
5	GATA3	chr17:63179733-63180716	SK-N-SH	brain:	n/a	chr17:63180208-63180219
6	BHLHE40	chr17:63180392-63180687	K562	blood:	n/a	chr17:63180532-63180545
7	GATA2	chr17:63180024-63180766	SH-SY5Y	brain:	n/a	chr17:63180208-63180219
8	POLR2A	chr17:63179474-63180823	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr17:63180426-63180698	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:63173795..63175589-chr17:63177989..63180729,2	MCF-7	breast:

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]
rs11651081	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654243	0.91[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	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658736	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658773	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1514500	0.81[ASN][1000 genomes]
rs16960903	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960905	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960920	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960957	0.91[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	0.82[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	0.86[AFR][1000 genomes];0.98[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	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4791227	0.86[AFR][1000 genomes];0.98[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]
rs59173947	0.81[ASN][1000 genomes]
rs61708414	0.81[ASN][1000 genomes]
rs7207726	0.84[EUR][1000 genomes]
rs7211341	1.00[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[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	0.86[AFR][1000 genomes];0.98[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	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8072543	0.86[AFR][1000 genomes];1.00[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	0.97[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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63169800-63190800	Weak transcription	Gastric	stomach
2	chr17:63176000-63181000	Weak transcription	Fetal Kidney	kidney
3	chr17:63176400-63223800	Weak transcription	Lung	lung
4	chr17:63178000-63181600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr17:63178400-63181200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:63178400-63181200	Enhancers	HUVEC	blood vessel
7	chr17:63178800-63181400	Weak transcription	K562	blood
8	chr17:63178800-63182000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:63178800-63182200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:63179000-63180800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr17:63179000-63181000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:63179000-63183000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:63179200-63182000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr17:63179400-63180800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr17:63179400-63182200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr17:63179400-63182600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr17:63179600-63181000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr17:63179600-63181200	Enhancers	Stomach Smooth Muscle	stomach
19	chr17:63179600-63181200	Enhancers	HSMM	muscle
20	chr17:63179600-63181400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr17:63179600-63181600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr17:63179600-63181600	Enhancers	HSMMtube	muscle
23	chr17:63179600-63182200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:63179600-63182200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:63179600-63182200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr17:63179600-63182200	Enhancers	Fetal Brain Male	brain
27	chr17:63179600-63183000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:63179800-63180800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr17:63179800-63180800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr17:63179800-63180800	Enhancers	NH-A	brain
31	chr17:63179800-63181200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr17:63179800-63181200	Enhancers	Ovary	ovary
33	chr17:63179800-63181400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr17:63179800-63181400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr17:63179800-63181600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr17:63179800-63181600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:63179800-63181800	Enhancers	Rectal Smooth Muscle	rectum
38	chr17:63179800-63182200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr17:63179800-63182200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr17:63179800-63182200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:63180000-63180800	Enhancers	Brain Anterior Caudate	brain
42	chr17:63180000-63180800	Enhancers	NHLF	lung
43	chr17:63180000-63180800	Enhancers	Osteobl	bone
44	chr17:63180000-63194600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:63180200-63180800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr17:63180200-63181400	Weak transcription	Fetal Stomach	stomach
47	chr17:63180400-63180800	Enhancers	Brain Cingulate Gyrus	brain
48	chr17:63180400-63181200	Enhancers	Brain Angular Gyrus	brain
49	chr17:63180400-63181200	Enhancers	Brain Substantia Nigra	brain
50	chr17:63180400-63182200	Enhancers	HUES6 Cell Line	embryonic stem cell

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