Variant report

Variant	rs1005719
Chromosome Location	chr13:30083131-30083132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30081296..30083385-chr13:30689063..30690673,2	MCF-7	breast:
2	chr13:30082618..30084607-chr13:30095133..30096907,2	K562	blood:
3	chr13:30081784..30083540-chr13:30281671..30282678,17	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1005720	0.83[ASN][1000 genomes]
rs1124594	0.83[AFR][1000 genomes]
rs1411928	0.85[AMR][1000 genomes]
rs1571784	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2776957	0.85[AMR][1000 genomes]
rs2776959	0.85[AMR][1000 genomes]
rs72623486	0.82[ASN][1000 genomes]
rs883055	0.82[ASN][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	nsv983696	chr13:30034016-30090454	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv430551	chr13:30061100-30113000	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv899960	chr13:30064014-30097240	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv561392	chr13:30071245-30091819	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30062400-30087200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:30066400-30084400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:30071000-30128800	Strong transcription	Dnd41	blood
4	chr13:30074800-30084800	Weak transcription	Gastric	stomach
5	chr13:30077800-30085200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:30077800-30085600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr13:30077800-30087800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:30078000-30084800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr13:30078000-30086000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr13:30079000-30085800	Weak transcription	Primary T cells from cord blood	blood
11	chr13:30079600-30087200	Weak transcription	HUVEC	blood vessel
12	chr13:30079800-30084200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr13:30080000-30084200	Weak transcription	NHEK	skin
14	chr13:30080000-30084400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:30080000-30084800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr13:30080000-30085000	Weak transcription	HMEC	breast
17	chr13:30080000-30085600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr13:30080000-30087200	Weak transcription	Aorta	Aorta
19	chr13:30080200-30084200	Weak transcription	Thymus	Thymus
20	chr13:30080200-30087200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr13:30080200-30087800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr13:30080400-30083200	Enhancers	HSMMtube	muscle
23	chr13:30080400-30085600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr13:30080400-30086600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr13:30080600-30085000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr13:30080600-30086600	Weak transcription	Fetal Thymus	thymus
27	chr13:30080600-30088200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr13:30081000-30083400	Enhancers	Left Ventricle	heart
29	chr13:30081000-30084600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:30081000-30084600	Enhancers	Fetal Heart	heart
31	chr13:30081200-30085000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr13:30081200-30085600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr13:30081400-30086800	Weak transcription	A549	lung
34	chr13:30081400-30087000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:30081600-30083600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr13:30081600-30084200	Weak transcription	Brain Angular Gyrus	brain
37	chr13:30081800-30083200	Enhancers	Colon Smooth Muscle	Colon
38	chr13:30081800-30083200	Enhancers	Fetal Stomach	stomach
39	chr13:30081800-30085400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr13:30081800-30086000	Enhancers	Fetal Brain Male	brain
41	chr13:30081800-30086200	Enhancers	Fetal Muscle Leg	muscle
42	chr13:30081800-30086400	Enhancers	NHDF-Ad	bronchial
43	chr13:30082000-30083400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:30082000-30084800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr13:30082000-30084800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr13:30082000-30090200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr13:30082000-30106600	Weak transcription	Fetal Kidney	kidney
48	chr13:30082000-30107600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:30082200-30083400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr13:30082200-30083400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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