Variant report

Variant	rs10913141
Chromosome Location	chr1:171466550-171466551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171465551..171468754-chr1:171477874..171481569,3	K562	blood:
2	chr1:171465256..171467403-chr1:171468400..171471374,3	MCF-7	breast:
3	chr1:171460549..171462175-chr1:171465890..171467674,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117523	Chromatin interaction
ENSG00000239373	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12025905	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12035593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12036058	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12079162	0.82[YRI][hapmap]
rs12239382	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916387	1.00[YRI][hapmap]
rs6703132	0.82[YRI][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	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv465639	chr1:171459507-171545051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv548190	chr1:171459507-171545051	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10913141	ILDR2	cis	cerebellum	SCAN
rs10913141	XCL2	cis	cerebellum	SCAN
rs10913141	MAEL	cis	parietal	SCAN
rs10913141	DNM3	cis	cerebellum	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171455800-171467800	Weak transcription	Spleen	Spleen
2	chr1:171456000-171481800	Weak transcription	Placenta	Placenta
3	chr1:171456200-171467800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:171456200-171475000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:171456400-171467200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr1:171456400-171467800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:171456400-171468400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr1:171456400-171470200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:171456400-171471200	Weak transcription	Thymus	Thymus
10	chr1:171456400-171473000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:171456400-171481800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:171456400-171483600	Weak transcription	Fetal Intestine Large	intestine
13	chr1:171456600-171467000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr1:171456600-171469600	Weak transcription	Fetal Stomach	stomach
15	chr1:171456800-171474800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:171457200-171469000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:171457600-171471000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:171457800-171482000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:171457800-171482200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:171458200-171471000	Weak transcription	Fetal Brain Female	brain
21	chr1:171459000-171482000	Weak transcription	HMEC	breast
22	chr1:171460400-171471800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:171460600-171467200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:171460800-171467400	Weak transcription	HepG2	liver
25	chr1:171460800-171468000	Weak transcription	Dnd41	blood
26	chr1:171460800-171470200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:171460800-171470600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:171460800-171481400	Weak transcription	HSMM	muscle
29	chr1:171461800-171466600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:171461800-171466800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:171461800-171468200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr1:171461800-171469800	Weak transcription	Primary B cells from cord blood	blood
33	chr1:171461800-171470400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:171462000-171467200	Weak transcription	Fetal Thymus	thymus
35	chr1:171462000-171467400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:171462200-171467400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:171462200-171468400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:171462600-171467800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:171462600-171468800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:171462600-171471200	Weak transcription	Right Atrium	heart
41	chr1:171462600-171478000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:171462600-171482400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:171462800-171467200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:171462800-171467200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:171462800-171467200	Enhancers	Liver	Liver
46	chr1:171462800-171469200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:171463000-171483200	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:171464000-171466800	Weak transcription	Aorta	Aorta
49	chr1:171464000-171467200	Weak transcription	Hela-S3	cervix
50	chr1:171464000-171467600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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