Variant report

Variant	rs9910678
Chromosome Location	chr17:37904211-37904212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37892523..37898235-chr17:37904182..37913977,22	MCF-7	breast:
2	chr17:37897334..37903790-chr17:37903988..37910787,11	K562	blood:
3	chr17:37872097..37874439-chr17:37901648..37904546,2	K562	blood:
4	chr17:37903978..37906952-chr17:37910372..37912419,2	K562	blood:
5	chr17:37892158..37901988-chr17:37904094..37913282,26	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141736	Chromatin interaction
ENSG00000141738	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12937330	1.00[MEX][hapmap]
rs1453560	1.00[MEX][hapmap]
rs2941509	1.00[GIH][hapmap]
rs3169572	1.00[GIH][hapmap]
rs34758895	0.95[AMR][1000 genomes]
rs35770042	0.88[EUR][1000 genomes]
rs4252665	1.00[CEU][hapmap];1.00[MEX][hapmap];0.88[EUR][1000 genomes]
rs7503018	1.00[MEX][hapmap]
rs8076347	1.00[MEX][hapmap]
rs8079075	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs9652840	1.00[CEU][hapmap]
rs9891131	1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9894370	0.95[AMR][1000 genomes]
rs9896940	1.00[CEU][hapmap];1.00[MEX][hapmap];0.91[EUR][1000 genomes]
rs9901483	1.00[MEX][hapmap]
rs9907966	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs9908694	1.00[MEX][hapmap]
rs9909432	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9911688	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs9913769	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs9913957	1.00[GIH][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1056234	chr17:37862605-37909988	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv908219	chr17:37880265-37917633	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1064787	chr17:37892843-38054410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv543342	chr17:37892843-38054410	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9910678	RP11-387H17.4	cis	Muscle Skeletal	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37897200-37909400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:37897800-37906400	Weak transcription	Right Ventricle	heart
3	chr17:37897800-37910000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:37898000-37905200	Strong transcription	Fetal Intestine Small	intestine
5	chr17:37898400-37904400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr17:37898400-37906000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr17:37898600-37904400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr17:37898600-37904400	Strong transcription	Fetal Intestine Large	intestine
9	chr17:37898800-37904400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:37899000-37904400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:37899000-37904400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr17:37899400-37904400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr17:37899400-37904400	Strong transcription	Gastric	stomach
14	chr17:37899400-37904800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr17:37899400-37906400	Weak transcription	Spleen	Spleen
16	chr17:37899600-37904400	Strong transcription	Pancreas	Pancrea
17	chr17:37901000-37904400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:37901200-37906200	Weak transcription	Stomach Mucosa	stomach
19	chr17:37901400-37906400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr17:37901600-37906400	Weak transcription	A549	lung
21	chr17:37901600-37908400	Weak transcription	Fetal Kidney	kidney
22	chr17:37902200-37906400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:37902200-37906400	Weak transcription	Lung	lung
24	chr17:37902200-37910000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr17:37902400-37906400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr17:37902600-37906400	Weak transcription	Hela-S3	cervix
27	chr17:37902800-37908200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr17:37903200-37906000	Weak transcription	HMEC	breast
29	chr17:37903200-37906400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr17:37903200-37909400	Weak transcription	HUVEC	blood vessel
31	chr17:37903400-37906400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:37903400-37906400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:37903400-37909400	Weak transcription	Colonic Mucosa	Colon
34	chr17:37903400-37910000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr17:37903600-37908000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr17:37903800-37904400	Genic enhancers	Placenta	Placenta
37	chr17:37903800-37905000	Enhancers	Fetal Heart	heart
38	chr17:37903800-37908000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr17:37904000-37906400	Weak transcription	Liver	Liver
40	chr17:37904000-37908200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr17:37904000-37910000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr17:37904200-37904400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:37904200-37904400	Genic enhancers	Esophagus	oesophagus
44	chr17:37904200-37904600	Weak transcription	HepG2	liver
45	chr17:37904200-37906200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr17:37904200-37906200	Weak transcription	NHEK	skin
47	chr17:37904200-37906600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr17:37904200-37908200	Weak transcription	H9 Cell Line	embryonic stem cell

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