Variant report

Variant	rs9899364
Chromosome Location	chr17:17567112-17567113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17418461..17420867-chr17:17565358..17567430,2	K562	blood:
2	chr17:17566953..17570560-chr17:17583425..17585790,3	K562	blood:
3	chr17:17566041..17569411-chr17:17596920..17599764,3	MCF-7	breast:
4	chr17:17566304..17567837-chr17:17743104..17745974,2	K562	blood:
5	chr17:17564834..17568175-chr17:17574678..17576692,3	MCF-7	breast:
6	chr17:17565443..17568404-chr17:17572179..17574047,2	MCF-7	breast:
7	chr17:17566980..17568682-chr17:17739596..17741450,2	K562	blood:
8	chr17:17565862..17568773-chr17:17588308..17590151,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000072310	Chromatin interaction
ENSG00000108557	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2001421	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs2350962	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs4636969	0.83[EUR][1000 genomes]
rs4925062	0.92[ASN][1000 genomes]
rs4925094	0.80[AMR][1000 genomes]
rs4995264	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs7209595	0.85[CEU][hapmap]
rs7225141	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8067800	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8071107	0.80[CEU][hapmap]
rs9783803	0.93[ASN][1000 genomes]
rs9900148	0.83[EUR][1000 genomes]
rs9905702	0.84[CEU][hapmap]
rs9905728	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv907751	chr17:17530554-17581184	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17565200-17567400	Enhancers	Primary B cells from peripheral blood	blood
2	chr17:17565400-17567200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:17565400-17567400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:17565600-17567200	Enhancers	Fetal Muscle Trunk	muscle
5	chr17:17565800-17567200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:17565800-17567200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr17:17565800-17567200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr17:17565800-17567400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:17565800-17567600	Enhancers	Fetal Thymus	thymus
10	chr17:17565800-17568000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:17565800-17568200	Enhancers	Spleen	Spleen
12	chr17:17566000-17567200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:17566000-17567200	Enhancers	Esophagus	oesophagus
14	chr17:17566000-17567400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr17:17566000-17567400	Flanking Active TSS	GM12878-XiMat	blood
16	chr17:17566000-17567400	Enhancers	HSMM	muscle
17	chr17:17566000-17567400	Enhancers	HSMMtube	muscle
18	chr17:17566000-17568000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr17:17566000-17568000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr17:17566200-17567200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:17566200-17567200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr17:17566200-17567200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr17:17566200-17567200	Enhancers	Fetal Intestine Small	intestine
24	chr17:17566200-17567200	Enhancers	Thymus	Thymus
25	chr17:17566200-17567200	Enhancers	A549	lung
26	chr17:17566200-17567400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:17566200-17567400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:17566200-17567400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr17:17566200-17567400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr17:17566200-17567400	Enhancers	Dnd41	blood
31	chr17:17566200-17567400	Enhancers	HMEC	breast
32	chr17:17566200-17567600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr17:17566200-17567600	Enhancers	NH-A	brain
34	chr17:17566200-17567800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr17:17566200-17567800	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr17:17566400-17567200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr17:17566400-17567200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr17:17566400-17567200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:17566400-17567200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr17:17566400-17567200	Enhancers	Primary hematopoietic stem cells	blood
41	chr17:17566400-17567200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr17:17566400-17567200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr17:17566400-17567200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr17:17566400-17567200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr17:17566400-17567200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:17566400-17567200	Enhancers	Colonic Mucosa	Colon
47	chr17:17566400-17567200	Enhancers	Fetal Brain Male	brain
48	chr17:17566400-17567200	Enhancers	Fetal Kidney	kidney
49	chr17:17566400-17567200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
50	chr17:17566400-17567200	Flanking Active TSS	HepG2	liver

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