Variant report

Variant	rs4247118
Chromosome Location	chr17:17011223-17011224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17008907..17011801-chr17:17020811..17022736,2	K562	blood:
2	chr17:17008754..17011646-chr17:17017494..17019040,2	MCF-7	breast:
3	chr17:17010273..17011801-chr17:17020537..17022736,2	K562	blood:
4	chr17:17006504..17008901-chr17:17010774..17012390,2	MCF-7	breast:
5	chr17:16944526..16947227-chr17:17010435..17013618,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133030	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10852847	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11078374	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11656868	1.00[CHB][hapmap]
rs11871902	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090018	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2349646	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28461224	1.00[ASN][1000 genomes]
rs4247120	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4275914	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4514740	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4985696	1.00[ASN][1000 genomes]
rs4985701	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985717	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4985718	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4985740	1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4985746	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985778	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6502563	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7206981	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207485	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7208929	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7208973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217091	1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7220827	1.00[CHB][hapmap]
rs7221842	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7222311	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064550	0.93[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][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];1.00[ASN][1000 genomes]
rs9893911	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9898995	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9908767	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914671	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059280	chr17:16975059-17017957	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16986800-17013600	Weak transcription	HUVEC	blood vessel
2	chr17:16993400-17011400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:16994600-17011600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr17:16997000-17016600	Enhancers	Left Ventricle	heart
5	chr17:16998200-17016200	Enhancers	Fetal Heart	heart
6	chr17:16998600-17015400	Genic enhancers	Fetal Muscle Leg	muscle
7	chr17:16998600-17016600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr17:16999000-17012800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:17000200-17012600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr17:17000200-17018200	Weak transcription	NH-A	brain
11	chr17:17001600-17011400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:17001800-17012800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr17:17002000-17011400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr17:17002400-17011600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr17:17002600-17011400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr17:17002600-17012000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:17002600-17023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:17002800-17011600	Weak transcription	Small Intestine	intestine
19	chr17:17003400-17012600	Weak transcription	Fetal Brain Male	brain
20	chr17:17004000-17014000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr17:17006200-17033000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr17:17006800-17016600	Enhancers	Right Ventricle	heart
23	chr17:17007000-17011800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr17:17007400-17014200	Enhancers	Colon Smooth Muscle	Colon
25	chr17:17007400-17016600	Enhancers	Pancreas	Pancrea
26	chr17:17007600-17016600	Enhancers	Right Atrium	heart
27	chr17:17007800-17014000	Enhancers	Fetal Thymus	thymus
28	chr17:17007800-17015400	Enhancers	Psoas Muscle	Psoas
29	chr17:17007800-17021000	Weak transcription	HepG2	liver
30	chr17:17008000-17017200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr17:17008400-17014800	Enhancers	NHDF-Ad	bronchial
32	chr17:17008400-17015000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr17:17008400-17016600	Enhancers	Placenta	Placenta
34	chr17:17008800-17011600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:17009200-17013000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr17:17009200-17015400	Enhancers	Ovary	ovary
37	chr17:17009200-17025200	Enhancers	Brain Anterior Caudate	brain
38	chr17:17009400-17012200	Enhancers	Stomach Mucosa	stomach
39	chr17:17009400-17013600	Enhancers	Brain Substantia Nigra	brain
40	chr17:17009400-17013800	Enhancers	Duodenum Mucosa	Duodenum
41	chr17:17009400-17015000	Enhancers	Adipose Nuclei	Adipose
42	chr17:17009400-17016000	Enhancers	Esophagus	oesophagus
43	chr17:17009400-17016200	Genic enhancers	A549	lung
44	chr17:17009400-17016600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr17:17009400-17020600	Enhancers	Lung	lung
46	chr17:17009600-17011800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:17009600-17014400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr17:17009600-17015400	Enhancers	Brain Hippocampus Middle	brain
49	chr17:17009600-17015400	Genic enhancers	Fetal Intestine Small	intestine
50	chr17:17009800-17012200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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