Variant report

Variant	rs11570562
Chromosome Location	chr17:45204871-45204872
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	chr17:45204832-45205332	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45201166..45202971-chr17:45204243..45206513,3	K562	blood:
2	chr17:45201166..45204162-chr17:45204579..45207992,3	K562	blood:

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11079759	1.00[ASN][1000 genomes]
rs11079761	1.00[ASN][1000 genomes]
rs11570441	1.00[ASN][1000 genomes]
rs11570451	1.00[ASN][1000 genomes]
rs11570487	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11570506	1.00[ASN][1000 genomes]
rs11570520	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570529	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570543	1.00[ASN][1000 genomes]
rs11570557	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570568	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570570	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11869591	1.00[ASN][1000 genomes]
rs12937083	1.00[ASN][1000 genomes]
rs12937292	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12939917	1.00[ASN][1000 genomes]
rs12941464	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12947008	1.00[ASN][1000 genomes]
rs12947898	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12948241	1.00[ASN][1000 genomes]
rs12950715	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1515753	1.00[ASN][1000 genomes]
rs16941640	1.00[ASN][1000 genomes]
rs2040602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317378	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34006043	1.00[ASN][1000 genomes]
rs34735768	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34885810	1.00[ASN][1000 genomes]
rs35536045	1.00[ASN][1000 genomes]
rs35751916	1.00[ASN][1000 genomes]
rs59581991	1.00[ASN][1000 genomes]
rs66518624	1.00[ASN][1000 genomes]
rs66976195	1.00[ASN][1000 genomes]
rs67551364	1.00[ASN][1000 genomes]
rs67777457	1.00[ASN][1000 genomes]
rs71375393	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71375401	1.00[ASN][1000 genomes]
rs72823426	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731790	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7502265	1.00[ASN][1000 genomes]
rs954344	1.00[ASN][1000 genomes]
rs954345	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3332795	chr17:45116212-45209297	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv3386521	chr17:45116232-45209267	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv908563	chr17:45158537-45230311	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv962456	chr17:45163689-45212872	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45185600-45206400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr17:45192400-45212800	Weak transcription	Gastric	stomach
3	chr17:45193200-45212800	Weak transcription	Aorta	Aorta
4	chr17:45194000-45209800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr17:45194200-45208200	Strong transcription	HUVEC	blood vessel
6	chr17:45194200-45209600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr17:45194200-45209600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr17:45194200-45209800	Strong transcription	Dnd41	blood
9	chr17:45194800-45212800	Weak transcription	Colonic Mucosa	Colon
10	chr17:45194800-45214400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:45195400-45209600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr17:45195400-45209800	Strong transcription	Fetal Thymus	thymus
14	chr17:45195600-45209400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:45195800-45212800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr17:45196000-45205600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr17:45196000-45206400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr17:45196000-45209600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:45196000-45209800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr17:45196200-45212800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:45196400-45212800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr17:45196400-45212800	Weak transcription	Ovary	ovary
23	chr17:45196600-45207400	Strong transcription	Placenta	Placenta
24	chr17:45196600-45213000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:45196600-45213000	Weak transcription	Esophagus	oesophagus
26	chr17:45197000-45207000	Strong transcription	Fetal Lung	lung
27	chr17:45197200-45206800	Strong transcription	GM12878-XiMat	blood
28	chr17:45197200-45207400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr17:45197200-45209600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr17:45197400-45206400	Strong transcription	Brain Germinal Matrix	brain
31	chr17:45197400-45206800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr17:45197400-45209800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:45197600-45207400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr17:45197600-45209600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr17:45197800-45209400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:45197800-45210000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr17:45198000-45206800	Strong transcription	Fetal Muscle Leg	muscle
38	chr17:45198000-45209600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr17:45198000-45212000	Strong transcription	Fetal Stomach	stomach
40	chr17:45198200-45205000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr17:45198200-45210200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr17:45198200-45212800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr17:45198200-45212800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr17:45198200-45212800	Weak transcription	Brain Angular Gyrus	brain
45	chr17:45198400-45205000	Weak transcription	Brain Substantia Nigra	brain
46	chr17:45198400-45205800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr17:45198400-45208800	Weak transcription	HSMMtube	muscle
48	chr17:45198400-45212800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr17:45198600-45206400	Weak transcription	Brain Anterior Caudate	brain
50	chr17:45198600-45207400	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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