Variant report

Variant	rs11570553
Chromosome Location	chr17:45207214-45207215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45207192..45209453-chr17:45214341..45217324,3	K562	blood:
2	chr17:45201166..45204162-chr17:45204579..45207992,3	K562	blood:

Variant related genes	Relation type
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10438762	1.00[AMR][1000 genomes]
rs11570477	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11570488	1.00[AMR][1000 genomes];0.91[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	chr17:45192400-45212800	Weak transcription	Gastric	stomach
2	chr17:45193200-45212800	Weak transcription	Aorta	Aorta
3	chr17:45194000-45209800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr17:45194200-45208200	Strong transcription	HUVEC	blood vessel
5	chr17:45194200-45209600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr17:45194200-45209600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr17:45194200-45209800	Strong transcription	Dnd41	blood
8	chr17:45194800-45212800	Weak transcription	Colonic Mucosa	Colon
9	chr17:45194800-45214400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:45195400-45209600	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr17:45195400-45209800	Strong transcription	Fetal Thymus	thymus
13	chr17:45195600-45209400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:45195800-45212800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr17:45196000-45209600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr17:45196000-45209800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr17:45196200-45212800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:45196400-45212800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr17:45196400-45212800	Weak transcription	Ovary	ovary
20	chr17:45196600-45207400	Strong transcription	Placenta	Placenta
21	chr17:45196600-45213000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:45196600-45213000	Weak transcription	Esophagus	oesophagus
23	chr17:45197200-45207400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr17:45197200-45209600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:45197400-45209800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:45197600-45207400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr17:45197600-45209600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr17:45197800-45209400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr17:45197800-45210000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:45198000-45209600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr17:45198000-45212000	Strong transcription	Fetal Stomach	stomach
32	chr17:45198200-45210200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr17:45198200-45212800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr17:45198200-45212800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr17:45198200-45212800	Weak transcription	Brain Angular Gyrus	brain
36	chr17:45198400-45208800	Weak transcription	HSMMtube	muscle
37	chr17:45198400-45212800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr17:45198600-45207400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr17:45198600-45209800	Strong transcription	A549	lung
40	chr17:45198600-45212800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:45198800-45208200	Strong transcription	Fetal Intestine Small	intestine
42	chr17:45198800-45209800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:45198800-45212800	Weak transcription	Fetal Heart	heart
44	chr17:45199000-45209200	Strong transcription	Osteobl	bone
45	chr17:45199000-45211800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr17:45199000-45212800	Weak transcription	Pancreas	Pancrea
47	chr17:45199200-45207800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr17:45199200-45209600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr17:45199400-45212800	Weak transcription	Psoas Muscle	Psoas
50	chr17:45199600-45212800	Weak transcription	Small Intestine	intestine

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