Variant report

Variant	rs7207485
Chromosome Location	chr17:17090267-17090268
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	chr17:17089940-17090312	PFSK-1	brain:	n/a	n/a
2	GATA2	chr17:17090087-17090398	SH-SY5Y	brain:	n/a	chr17:17090243-17090255

No.	Distal block	Cell Line	Cell type
1	chr17:17089905..17092856-chr17:17094714..17097551,4	K562	blood:
2	chr17:17088943..17091453-chr17:17205581..17207911,3	K562	blood:
3	chr17:17089234..17090798-chr17:17108550..17111029,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C17orf84-1	chr17:17087243-17091977	predAs_engstrom06_CD171782_1

Variant related genes	Relation type
ENSG00000263624	TF binding region
ENSG00000205309	Chromatin interaction
ENSG00000179598	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10852847	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11078374	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11867932	1.00[CHB][hapmap]
rs11867934	0.85[AMR][1000 genomes]
rs11871902	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs171394	1.00[CHB][hapmap]
rs1974721	0.82[AMR][1000 genomes]
rs2090018	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2271520	1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2349646	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28461224	1.00[ASN][1000 genomes]
rs4247118	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4247120	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4275914	1.00[ASN][1000 genomes]
rs4514740	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4985696	1.00[ASN][1000 genomes]
rs4985701	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4985702	1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4985717	1.00[ASN][1000 genomes]
rs4985740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985746	1.00[ASN][1000 genomes]
rs4985778	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6502563	1.00[CHB][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7206981	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208973	1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7210879	0.82[AMR][1000 genomes]
rs7217091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7220827	1.00[CHB][hapmap]
rs7221842	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7222311	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8064550	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8072184	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8073842	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8079563	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9893911	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9898995	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9908767	1.00[ASN][1000 genomes]
rs9914671	1.00[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	nsv907728	chr17:17013189-17095487	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17038400-17093800	Strong transcription	Fetal Brain Female	brain
2	chr17:17045200-17093800	Strong transcription	Fetal Stomach	stomach
3	chr17:17051000-17093200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:17055600-17092600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr17:17055800-17092600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr17:17056000-17093600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr17:17056200-17092400	Strong transcription	Stomach Smooth Muscle	stomach
8	chr17:17056600-17093600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:17056800-17095000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:17060400-17093400	Strong transcription	Liver	Liver
11	chr17:17060800-17093600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:17067800-17092200	Strong transcription	Brain Cingulate Gyrus	brain
13	chr17:17076200-17092600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:17076200-17094600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr17:17076600-17104600	Weak transcription	K562	blood
16	chr17:17080800-17090800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr17:17082800-17091000	Genic enhancers	Fetal Thymus	thymus
18	chr17:17083400-17090800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr17:17083600-17093200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr17:17084200-17092400	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr17:17084400-17093400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr17:17084400-17095200	Weak transcription	Fetal Kidney	kidney
23	chr17:17084800-17091400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:17084800-17094800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:17084800-17094800	Weak transcription	Fetal Brain Male	brain
26	chr17:17085600-17094800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr17:17085800-17090800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr17:17086000-17090600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr17:17086200-17090800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr17:17086400-17090600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:17086400-17095200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr17:17086400-17104800	Weak transcription	Brain Substantia Nigra	brain
33	chr17:17086400-17106600	Weak transcription	Colonic Mucosa	Colon
34	chr17:17086600-17093000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr17:17086600-17094800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr17:17087000-17092800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:17087200-17090400	Enhancers	Right Ventricle	heart
38	chr17:17087200-17094800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr17:17087600-17090800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr17:17087600-17092800	Weak transcription	Colon Smooth Muscle	Colon
41	chr17:17087600-17093800	Enhancers	Fetal Heart	heart
42	chr17:17087600-17093800	Genic enhancers	HSMMtube	muscle
43	chr17:17087600-17095400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr17:17087800-17091000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr17:17087800-17093200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr17:17087800-17093800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr17:17087800-17094800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr17:17088000-17090400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr17:17088000-17091600	Weak transcription	HepG2	liver
50	chr17:17088000-17093600	Weak transcription	NHDF-Ad	bronchial

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