Variant report

Variant	rs13374962
Chromosome Location	chr1:93416451-93416452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93414535..93417259-chr1:93426567..93429349,2	MCF-7	breast:
2	chr1:93296392..93298300-chr1:93415354..93417007,2	K562	blood:
3	chr1:93416390..93419310-chr1:93425632..93428458,3	K562	blood:
4	chr1:93416180..93418286-chr1:93422747..93424319,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154511	Chromatin interaction
ENSG00000122406	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10157869	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs10159030	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs13373836	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13374961	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17131669	1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17131670	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17131671	1.00[ASN][1000 genomes]
rs17131672	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17131673	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17131674	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4394666	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs59078677	1.00[ASN][1000 genomes]
rs60165854	1.00[ASN][1000 genomes]
rs60684469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61318253	1.00[ASN][1000 genomes]
rs7515224	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7519363	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7539571	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7552766	1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9324345	1.00[JPT][hapmap]

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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93400400-93416600	Weak transcription	Fetal Intestine Small	intestine
2	chr1:93400800-93421800	Weak transcription	Fetal Lung	lung
3	chr1:93409200-93421200	Weak transcription	Fetal Brain Female	brain
4	chr1:93409600-93426000	Weak transcription	Lung	lung
5	chr1:93410600-93425600	Weak transcription	Aorta	Aorta
6	chr1:93410600-93425800	Weak transcription	Right Atrium	heart
7	chr1:93410600-93426000	Weak transcription	Left Ventricle	heart
8	chr1:93410800-93416600	Weak transcription	Thymus	Thymus
9	chr1:93411000-93422000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:93411000-93425800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:93411400-93416600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:93411400-93416800	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:93411400-93416800	Weak transcription	Psoas Muscle	Psoas
14	chr1:93412400-93422000	Weak transcription	Liver	Liver
15	chr1:93413200-93417200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:93413600-93425600	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:93415000-93416600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:93415000-93416600	Enhancers	HepG2	liver
19	chr1:93415000-93417600	Enhancers	HMEC	breast
20	chr1:93415000-93419600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr1:93415200-93416600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr1:93415200-93416600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr1:93415200-93416800	Enhancers	K562	blood
24	chr1:93415200-93417000	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:93415200-93417200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:93415200-93417200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:93415200-93417800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:93415200-93418200	Enhancers	Brain Hippocampus Middle	brain
29	chr1:93415200-93419400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:93415200-93419800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr1:93415200-93419800	Flanking Active TSS	GM12878-XiMat	blood
32	chr1:93415200-93420000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr1:93415200-93425600	Enhancers	Primary T cells from cord blood	blood
34	chr1:93415200-93425600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:93415200-93425600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr1:93415200-93425600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr1:93415400-93416600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:93415400-93416600	Enhancers	Dnd41	blood
39	chr1:93415400-93416600	Enhancers	NHLF	lung
40	chr1:93415400-93416600	Enhancers	Osteobl	bone
41	chr1:93415400-93416800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:93415400-93417000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:93415400-93417000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:93415400-93417200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr1:93415400-93417200	Enhancers	Brain Cingulate Gyrus	brain
46	chr1:93415400-93417200	Enhancers	Fetal Intestine Large	intestine
47	chr1:93415400-93417200	Enhancers	NH-A	brain
48	chr1:93415400-93417400	Enhancers	HSMMtube	muscle
49	chr1:93415400-93417600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:93415400-93417800	Enhancers	Brain Angular Gyrus	brain

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