Variant report

Variant	rs11487432
Chromosome Location	chr1:180634944-180634945
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	chr1:180552648..180554926-chr1:180634516..180636719,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11484676	0.84[AMR][1000 genomes]
rs12064145	0.91[AFR][1000 genomes]
rs12079057	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs12084966	1.00[AFR][1000 genomes]
rs12087860	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs12089469	0.81[EUR][1000 genomes]
rs17301370	1.00[CEU][hapmap]
rs17301405	0.84[EUR][1000 genomes]
rs17301581	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs17301602	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs17301762	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs17301936	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs17373383	0.85[CEU][hapmap]
rs17373425	0.88[EUR][1000 genomes]
rs17373501	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs17373660	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs59077359	0.84[EUR][1000 genomes]
rs61809308	0.88[EUR][1000 genomes]
rs61809311	0.88[EUR][1000 genomes]
rs61809312	0.88[EUR][1000 genomes]
rs61809314	0.88[EUR][1000 genomes]
rs61809317	0.84[EUR][1000 genomes]
rs61809342	0.84[EUR][1000 genomes]
rs61809345	0.84[EUR][1000 genomes]
rs61809347	0.84[EUR][1000 genomes]
rs61809350	0.84[EUR][1000 genomes]
rs61809351	0.84[EUR][1000 genomes]
rs61809352	0.84[EUR][1000 genomes]
rs61809353	0.81[EUR][1000 genomes]
rs61809354	0.81[EUR][1000 genomes]
rs61809355	0.81[EUR][1000 genomes]
rs61809356	0.81[EUR][1000 genomes]
rs61809357	0.81[EUR][1000 genomes]
rs61809358	0.81[EUR][1000 genomes]
rs61811160	0.81[EUR][1000 genomes]
rs61811190	0.84[EUR][1000 genomes]
rs61811191	0.84[EUR][1000 genomes]
rs61811192	0.84[EUR][1000 genomes]
rs61811193	0.84[EUR][1000 genomes]
rs61811197	0.84[EUR][1000 genomes]
rs61811199	0.84[EUR][1000 genomes]
rs61811202	0.84[EUR][1000 genomes]
rs61811204	0.84[EUR][1000 genomes]
rs61811221	0.84[EUR][1000 genomes]
rs61811222	0.84[EUR][1000 genomes]
rs61811223	0.81[EUR][1000 genomes]
rs61811224	0.81[EUR][1000 genomes]
rs61811225	0.81[EUR][1000 genomes]
rs6659019	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs6664966	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs6671675	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs6674012	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs6681637	0.81[EUR][1000 genomes]
rs6685113	0.90[CEU][hapmap]
rs72707419	0.81[EUR][1000 genomes]
rs72721001	0.83[EUR][1000 genomes]
rs72723004	0.84[EUR][1000 genomes]
rs72723006	0.84[EUR][1000 genomes]
rs72723010	0.81[EUR][1000 genomes]
rs72723014	0.81[EUR][1000 genomes]
rs72723023	0.84[EUR][1000 genomes]
rs72723026	0.84[EUR][1000 genomes]
rs72723027	0.84[EUR][1000 genomes]
rs72723035	0.84[EUR][1000 genomes]
rs72723043	0.81[EUR][1000 genomes]
rs7556184	0.90[CEU][hapmap]

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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv988017	chr1:180630648-180639452	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180602000-180645200	Weak transcription	Gastric	stomach
2	chr1:180627600-180640000	Weak transcription	Fetal Heart	heart
3	chr1:180629600-180641000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:180631200-180635000	Weak transcription	HMEC	breast
5	chr1:180631200-180636000	Weak transcription	Ovary	ovary
6	chr1:180631400-180635000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:180631600-180644400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:180631800-180635000	ZNF genes & repeats	Fetal Brain Female	brain
9	chr1:180632200-180635000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:180632200-180635000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr1:180632200-180644800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:180632400-180635000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:180632400-180635400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:180632400-180635400	ZNF genes & repeats	Brain Germinal Matrix	brain
15	chr1:180632600-180635000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:180633000-180635200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:180633000-180636000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:180633200-180635200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:180633200-180636200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:180633200-180672000	Weak transcription	K562	blood
21	chr1:180633400-180635000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:180633400-180642600	Weak transcription	Pancreas	Pancrea
23	chr1:180633600-180635000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:180633600-180635200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
25	chr1:180633600-180635600	Strong transcription	Primary B cells from cord blood	blood
26	chr1:180633800-180635600	Weak transcription	Fetal Intestine Large	intestine
27	chr1:180633800-180640200	Weak transcription	Right Ventricle	heart
28	chr1:180634000-180635400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:180634000-180643400	Weak transcription	Left Ventricle	heart
30	chr1:180634200-180635000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:180634200-180635600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
32	chr1:180634200-180636200	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr1:180634400-180635000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
34	chr1:180634400-180635200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr1:180634600-180635000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:180634600-180635200	ZNF genes & repeats	Dnd41	blood
37	chr1:180634600-180635800	Weak transcription	Fetal Brain Male	brain
38	chr1:180634800-180635000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr1:180634800-180637400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:180634800-180637400	Weak transcription	Lung	lung
41	chr1:180634800-180639800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:180634800-180640400	Weak transcription	Aorta	Aorta
43	chr1:180634800-180643800	Weak transcription	H1 Cell Line	embryonic stem cell

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