Variant report

Variant	rs9550528
Chromosome Location	chr13:30695216-30695217
allele	C/T
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: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1409506	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2151207	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56244909	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61946863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61946864	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61946866	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61946867	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8001967	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8002607	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9550527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9550530	0.84[EUR][1000 genomes]
rs9551845	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9551847	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9551848	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9551849	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9551851	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9551852	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9551853	0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9634323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9634359	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv2761782	chr13:30692819-30695797	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	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	chr13:30692600-30695400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr13:30692600-30696400	Enhancers	Thymus	Thymus
9	chr13:30692800-30696000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:30692800-30696600	Enhancers	Fetal Thymus	thymus
11	chr13:30692800-30697000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr13:30693000-30696400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr13:30693200-30696600	Enhancers	Primary hematopoietic stem cells	blood
14	chr13:30693200-30697200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr13:30693400-30696600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr13:30693400-30696600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr13:30693600-30696000	Enhancers	GM12878-XiMat	blood
18	chr13:30693800-30696200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:30693800-30696800	Enhancers	Primary B cells from cord blood	blood
20	chr13:30694000-30695800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr13:30694000-30696200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:30694000-30696400	Enhancers	Primary T cells from cord blood	blood
23	chr13:30694000-30696400	Enhancers	NHEK	skin
24	chr13:30694000-30696800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:30694200-30695600	Enhancers	Colon Smooth Muscle	Colon
26	chr13:30694200-30696000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:30694200-30696400	Enhancers	HMEC	breast
28	chr13:30694400-30695400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr13:30694400-30695600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr13:30694400-30695800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr13:30694400-30695800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr13:30694400-30698200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr13:30694400-30699600	Weak transcription	NH-A	brain
34	chr13:30694400-30699800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:30694400-30707000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr13:30694600-30695600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr13:30694600-30695600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:30694600-30695800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr13:30694600-30695800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr13:30694600-30696000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr13:30694600-30696600	Enhancers	Dnd41	blood
42	chr13:30694600-30699400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr13:30694600-30699400	Weak transcription	Osteobl	bone
44	chr13:30694600-30699600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:30694600-30699600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr13:30694600-30699600	Weak transcription	HSMM	muscle
47	chr13:30694600-30699600	Weak transcription	NHDF-Ad	bronchial
48	chr13:30694800-30698400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr13:30694800-30699800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:30695000-30695400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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