Variant report

Variant	rs72847801
Chromosome Location	chr17:66534510-66534511
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	POLR2A	chr17:66533313-66538368	K562	blood:	n/a	n/a
2	POLR2A	chr17:66534290-66534862	HepG2	liver:	n/a	n/a
3	POLR2A	chr17:66534364-66536999	HepG2	liver:	n/a	n/a
4	POLR2A	chr17:66534419-66534778	HepG2	liver:	n/a	n/a
5	POLR2A	chr17:66528378-66541028	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:66533751..66535671-chr17:66755114..66757883,2	MCF-7	breast:
2	chr17:66533552..66536227-chr17:66536363..66538767,2	K562	blood:
3	chr17:66523700..66527434-chr17:66534416..66537406,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269657	TF binding region
ENSG00000108946	Chromatin interaction
ENSG00000108950	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10468444	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10491176	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16972996	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16973034	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302235	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3785905	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55736761	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56112060	0.83[ASN][1000 genomes]
rs7221724	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72847781	0.86[ASN][1000 genomes]
rs72847782	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72847784	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847785	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72847787	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72847789	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72847790	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72847794	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74000753	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8067357	0.83[ASN][1000 genomes]
rs8072598	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8082254	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833524	chr17:66524030-66705194	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv510723	chr17:66529668-66557425	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66511600-66537000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr17:66511600-66537000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:66511800-66536600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr17:66511800-66537000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr17:66511800-66537800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr17:66514800-66537000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:66514800-66537400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:66514800-66537600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:66515000-66535800	Strong transcription	Placenta	Placenta
10	chr17:66515200-66534600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr17:66516600-66535800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr17:66516800-66535400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr17:66517200-66537600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:66517400-66537000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:66517600-66535400	Strong transcription	HMEC	breast
16	chr17:66517600-66536800	Strong transcription	Fetal Thymus	thymus
17	chr17:66517600-66537200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr17:66518000-66534600	Strong transcription	A549	lung
19	chr17:66518000-66535800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr17:66518000-66536800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr17:66518000-66537200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr17:66518200-66534600	Strong transcription	Primary B cells from cord blood	blood
23	chr17:66518200-66536600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr17:66518200-66536800	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr17:66518200-66537600	Strong transcription	Primary T cells from cord blood	blood
26	chr17:66518200-66537800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr17:66518400-66534600	Strong transcription	GM12878-XiMat	blood
28	chr17:66518400-66535600	Strong transcription	Primary hematopoietic stem cells	blood
29	chr17:66518400-66535600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr17:66518600-66537200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr17:66518600-66538200	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr17:66519000-66537200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr17:66519200-66536800	Strong transcription	Fetal Lung	lung
34	chr17:66519800-66537800	Strong transcription	Brain Anterior Caudate	brain
35	chr17:66520400-66539800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr17:66523200-66542200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr17:66523400-66535800	Weak transcription	Stomach Mucosa	stomach
38	chr17:66523600-66538800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr17:66525400-66538600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr17:66526000-66539400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr17:66526600-66539800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr17:66526800-66535800	Weak transcription	Right Atrium	heart
43	chr17:66526800-66540600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr17:66527600-66534600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr17:66527600-66536800	Weak transcription	Small Intestine	intestine
46	chr17:66527600-66554200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr17:66527800-66538400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:66529800-66536200	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr17:66529800-66536800	Strong transcription	HSMMtube	muscle
50	chr17:66529800-66537400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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