Variant report

Variant	rs759484
Chromosome Location	chr12:11812600-11812601
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	chr12:11808714..11811317-chr12:11811716..11813257,2	K562	blood:
2	chr12:11809727..11811317-chr12:11811716..11813734,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs205545	1.00[ASW][hapmap]
rs2111050	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2541116	0.86[AFR][1000 genomes]
rs2541121	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2541122	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs2541126	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2541129	1.00[ASW][hapmap];0.84[MKK][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs2724592	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2856314	1.00[AMR][1000 genomes]
rs2856316	0.90[YRI][hapmap];0.86[AFR][1000 genomes]

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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11804200-11814000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:11806000-11812800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:11806000-11813000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:11806000-11813600	Weak transcription	Fetal Intestine Large	intestine
5	chr12:11806000-11814200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:11806200-11815800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:11806200-11816600	Weak transcription	Hela-S3	cervix
8	chr12:11806400-11813200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:11806400-11814000	Weak transcription	Colonic Mucosa	Colon
10	chr12:11806400-11815800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:11806600-11813000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:11806600-11813800	Weak transcription	Fetal Intestine Small	intestine
13	chr12:11806600-11814000	Weak transcription	Gastric	stomach
14	chr12:11806600-11814400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:11806600-11814400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:11806600-11814600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:11806600-11819200	Weak transcription	NHLF	lung
18	chr12:11807000-11814400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:11807400-11813600	Weak transcription	Small Intestine	intestine
20	chr12:11807600-11814200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:11807800-11812600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:11807800-11824200	Genic enhancers	Fetal Thymus	thymus
23	chr12:11808000-11812600	Weak transcription	Lung	lung
24	chr12:11808000-11814000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:11808000-11814200	Weak transcription	Psoas Muscle	Psoas
26	chr12:11808200-11814000	Weak transcription	Esophagus	oesophagus
27	chr12:11808600-11812800	Genic enhancers	Dnd41	blood
28	chr12:11808600-11815200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:11808600-11816400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr12:11808600-11818800	Genic enhancers	Primary hematopoietic stem cells	blood
31	chr12:11808800-11812800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:11808800-11813600	Weak transcription	Pancreas	Pancrea
33	chr12:11808800-11814200	Enhancers	Thymus	Thymus
34	chr12:11808800-11814600	Weak transcription	Fetal Lung	lung
35	chr12:11809000-11812800	Enhancers	HMEC	breast
36	chr12:11809000-11814400	Weak transcription	Stomach Mucosa	stomach
37	chr12:11809000-11820600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:11809200-11816600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:11809600-11813800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:11809800-11814000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr12:11810000-11812600	Enhancers	Osteobl	bone
42	chr12:11810000-11812800	Enhancers	Spleen	Spleen
43	chr12:11810000-11816200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr12:11810200-11812600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:11810200-11812800	Enhancers	Primary T cells from cord blood	blood
46	chr12:11810200-11813800	Enhancers	Rectal Smooth Muscle	rectum
47	chr12:11810200-11814400	Weak transcription	Placenta	Placenta
48	chr12:11810400-11812600	Enhancers	Colon Smooth Muscle	Colon
49	chr12:11810400-11812800	Enhancers	Primary B cells from peripheral blood	blood
50	chr12:11810400-11812800	Enhancers	Brain Hippocampus Middle	brain

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