Variant report

Variant	rs480097
Chromosome Location	chr13:30695927-30695928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30687670..30690211-chr13:30694014..30695972,2	MCF-7	breast:
2	chr13:30683338..30685506-chr13:30693014..30696213,3	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2388497	0.86[EUR][1000 genomes]
rs471343	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs472327	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs473909	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs482983	0.90[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559122	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs589064	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs597794	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613712	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614220	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614644	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs616352	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs643621	0.96[CEU][hapmap];0.87[CHB][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs656305	0.87[CHB][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7323177	0.81[ASN][1000 genomes]
rs7327238	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs913902	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30689600-30697400	Weak transcription	Aorta	Aorta
2	chr13:30689600-30697800	Weak transcription	Spleen	Spleen
3	chr13:30690200-30699800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:30691200-30699400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:30692400-30696400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:30692400-30696600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr13:30692600-30696400	Enhancers	Thymus	Thymus
8	chr13:30692800-30696000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:30692800-30696600	Enhancers	Fetal Thymus	thymus
10	chr13:30692800-30697000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr13:30693000-30696400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr13:30693200-30696600	Enhancers	Primary hematopoietic stem cells	blood
13	chr13:30693200-30697200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr13:30693400-30696600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr13:30693400-30696600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr13:30693600-30696000	Enhancers	GM12878-XiMat	blood
17	chr13:30693800-30696200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:30693800-30696800	Enhancers	Primary B cells from cord blood	blood
19	chr13:30694000-30696200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:30694000-30696400	Enhancers	Primary T cells from cord blood	blood
21	chr13:30694000-30696400	Enhancers	NHEK	skin
22	chr13:30694000-30696800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr13:30694200-30696000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:30694200-30696400	Enhancers	HMEC	breast
25	chr13:30694400-30698200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr13:30694400-30699600	Weak transcription	NH-A	brain
27	chr13:30694400-30699800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:30694400-30707000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr13:30694600-30696000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr13:30694600-30696600	Enhancers	Dnd41	blood
31	chr13:30694600-30699400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr13:30694600-30699400	Weak transcription	Osteobl	bone
33	chr13:30694600-30699600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:30694600-30699600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:30694600-30699600	Weak transcription	HSMM	muscle
36	chr13:30694600-30699600	Weak transcription	NHDF-Ad	bronchial
37	chr13:30694800-30698400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr13:30694800-30699800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr13:30695000-30698400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr13:30695000-30699400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr13:30695000-30701000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr13:30695200-30696200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr13:30695400-30696000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr13:30695400-30696200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr13:30695400-30696400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:30695600-30696200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr13:30695600-30696600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr13:30695600-30696600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr13:30695600-30697800	Weak transcription	Colon Smooth Muscle	Colon
50	chr13:30695800-30696000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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