Variant report

Variant	rs2724608
Chromosome Location	chr12:11843418-11843419
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10491985	1.00[AMR][1000 genomes]
rs12578238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs205542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2541122	0.86[EUR][1000 genomes]
rs2541124	0.86[EUR][1000 genomes]
rs2541129	0.86[EUR][1000 genomes]
rs2724605	0.86[EUR][1000 genomes]
rs2724649	0.86[EUR][1000 genomes]
rs2856308	0.86[EUR][1000 genomes]
rs2856309	0.86[EUR][1000 genomes]
rs2856310	0.86[EUR][1000 genomes]
rs2856311	0.86[EUR][1000 genomes]
rs2856316	0.86[EUR][1000 genomes]
rs2908839	0.86[EUR][1000 genomes]
rs3020922	0.86[EUR][1000 genomes]
rs4503633	1.00[AMR][1000 genomes]
rs5022566	1.00[AMR][1000 genomes]
rs74062381	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74062383	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs759485	0.86[EUR][1000 genomes]
rs918074	0.86[EUR][1000 genomes]
rs928949	0.86[EUR][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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11815000-11850600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:11822000-11850000	Weak transcription	HMEC	breast
3	chr12:11822200-11851000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:11826000-11851200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:11827800-11851800	Weak transcription	Ovary	ovary
7	chr12:11829400-11845000	Weak transcription	Psoas Muscle	Psoas
8	chr12:11831000-11848600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:11831200-11847200	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:11831400-11845600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:11831600-11852600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:11832600-11848200	Weak transcription	HSMMtube	muscle
13	chr12:11835600-11847000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:11837200-11858600	Weak transcription	Fetal Intestine Large	intestine
15	chr12:11837400-11843600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:11838000-11850000	Weak transcription	HUVEC	blood vessel
17	chr12:11838000-11850400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:11838000-11858000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:11838200-11846600	Weak transcription	Esophagus	oesophagus
20	chr12:11838200-11848200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:11838400-11844000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:11838400-11844800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:11838400-11848000	Weak transcription	Primary B cells from cord blood	blood
24	chr12:11838400-11848000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:11838400-11854200	Weak transcription	Fetal Heart	heart
26	chr12:11838600-11848000	Weak transcription	NH-A	brain
27	chr12:11838800-11872200	Weak transcription	Primary T cells from cord blood	blood
28	chr12:11839200-11857800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:11839400-11853400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:11839400-11859000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:11840000-11846200	Weak transcription	Liver	Liver
32	chr12:11840600-11843600	Enhancers	Rectal Smooth Muscle	rectum
33	chr12:11840800-11846800	Strong transcription	GM12878-XiMat	blood
34	chr12:11840800-11854400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:11840800-11859200	Weak transcription	Fetal Kidney	kidney
36	chr12:11841000-11843800	Enhancers	Thymus	Thymus
37	chr12:11841200-11846600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:11841200-11854200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:11841200-11856800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:11841600-11844200	Weak transcription	Dnd41	blood
41	chr12:11841600-11846400	Weak transcription	Spleen	Spleen
42	chr12:11841600-11847800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:11841600-11848200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:11841600-11853600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:11841800-11844600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr12:11841800-11845200	Weak transcription	Fetal Intestine Small	intestine
47	chr12:11841800-11845600	Weak transcription	Pancreas	Pancrea
48	chr12:11841800-11846000	Weak transcription	Right Ventricle	heart
49	chr12:11841800-11846200	Weak transcription	Aorta	Aorta
50	chr12:11841800-11846400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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