Variant report

Variant	rs4988357
Chromosome Location	chr17:59763114-59763115
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59476379..59478721-chr17:59762522..59765414,2	MCF-7	breast:
2	chr17:59761545..59763933-chr17:59805330..59807070,2	MCF-7	breast:
3	chr17:59762829..59765008-chr17:59909960..59911640,2	MCF-7	breast:
4	chr17:59763048..59764639-chr6:2988186..2990857,2	MCF-7	breast:
5	chr17:59488343..59490308-chr17:59762082..59765460,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124588	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000244041	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11079451	0.96[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.87[ASN][1000 genomes]
rs11079454	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654606	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11867566	0.85[ASN][1000 genomes]
rs11871785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2007931	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2040609	0.92[CHB][hapmap]
rs2106663	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2158005	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2159451	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35090865	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35524448	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56218811	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62071871	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62071872	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6504058	0.83[CHB][hapmap]
rs6504065	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67223644	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7214703	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7219555	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7220740	0.87[ASN][1000 genomes]
rs7222482	0.96[CHB][hapmap];0.87[JPT][hapmap];0.84[YRI][hapmap];0.89[ASN][1000 genomes]
rs8064683	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9908115	0.95[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs9912366	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9915787	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9916777	0.80[AMR][1000 genomes]
rs9916780	0.84[AMR][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	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59751000-59777200	Weak transcription	HepG2	liver
2	chr17:59755600-59778000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:59756600-59772600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:59756600-59777000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:59757000-59765400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr17:59757000-59772000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr17:59757400-59775600	Weak transcription	A549	lung
8	chr17:59758400-59772400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:59758600-59765400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:59758600-59766800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:59758600-59768800	Weak transcription	Fetal Intestine Small	intestine
12	chr17:59759400-59767000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr17:59759400-59772000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr17:59759400-59772400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr17:59759600-59771200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:59759800-59765200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:59759800-59769200	Weak transcription	Thymus	Thymus
18	chr17:59759800-59775400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr17:59759800-59776600	Weak transcription	GM12878-XiMat	blood
20	chr17:59760000-59763200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:59760000-59763400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr17:59760200-59765200	Weak transcription	Fetal Thymus	thymus
23	chr17:59760200-59774000	Weak transcription	Hela-S3	cervix
24	chr17:59760600-59763400	Strong transcription	NH-A	brain
25	chr17:59760800-59765200	Weak transcription	Fetal Stomach	stomach
26	chr17:59760800-59767600	Strong transcription	Dnd41	blood
27	chr17:59761000-59765600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr17:59761000-59766800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:59761200-59772800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr17:59761400-59771600	Weak transcription	NHDF-Ad	bronchial
31	chr17:59761400-59776000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr17:59761600-59766600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:59761600-59767200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr17:59761600-59776200	Weak transcription	HUVEC	blood vessel
35	chr17:59761800-59763200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr17:59761800-59765400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr17:59762000-59766800	Weak transcription	Osteobl	bone
38	chr17:59762400-59772200	Weak transcription	NHLF	lung
39	chr17:59762600-59777400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:59762800-59763800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr17:59762800-59765600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr17:59763000-59763800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr17:59763000-59772000	Weak transcription	Fetal Intestine Large	intestine

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