Variant report

Variant	rs17519615
Chromosome Location	chr12:40647249-40647250
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	12:40642938-40650987..12:40793507-40812339	K562	blood:

Variant related genes	Relation type
ENSG00000205592	Chromatin interaction

rs_ID	r²[population]
rs11564128	1.00[JPT][hapmap]
rs11564204	1.00[JPT][hapmap]
rs12368891	1.00[JPT][hapmap]
rs17442206	1.00[JPT][hapmap]
rs17442297	1.00[JPT][hapmap]
rs17442742	1.00[JPT][hapmap]
rs17442980	1.00[JPT][hapmap]
rs17443178	1.00[JPT][hapmap]
rs17443185	1.00[JPT][hapmap]
rs17443206	1.00[JPT][hapmap]
rs17443366	1.00[JPT][hapmap]
rs17443380	1.00[JPT][hapmap]
rs17443387	1.00[JPT][hapmap]
rs17443504	1.00[JPT][hapmap]
rs17443882	1.00[JPT][hapmap]
rs17443916	1.00[JPT][hapmap]
rs17443951	1.00[JPT][hapmap]
rs17444021	1.00[JPT][hapmap]
rs17444033	1.00[JPT][hapmap]
rs17444299	1.00[JPT][hapmap]
rs17444653	1.00[JPT][hapmap]
rs17444695	1.00[JPT][hapmap]
rs17444805	1.00[JPT][hapmap]
rs17458202	1.00[JPT][hapmap]
rs17458396	1.00[JPT][hapmap]
rs17458417	1.00[JPT][hapmap]
rs17458487	1.00[JPT][hapmap]
rs17458528	1.00[JPT][hapmap]
rs17458836	1.00[JPT][hapmap]
rs17461337	1.00[JPT][hapmap]
rs17465737	1.00[JPT][hapmap]
rs17465751	1.00[JPT][hapmap]
rs17465807	1.00[JPT][hapmap]
rs17465877	1.00[JPT][hapmap]
rs17466002	1.00[JPT][hapmap]
rs17466143	1.00[JPT][hapmap]
rs17466206	1.00[JPT][hapmap]
rs17466213	1.00[JPT][hapmap]
rs17466241	1.00[JPT][hapmap]
rs17466458	1.00[JPT][hapmap]
rs17466514	1.00[JPT][hapmap]
rs17466535	1.00[JPT][hapmap]
rs17466584	1.00[JPT][hapmap]
rs17466612	1.00[JPT][hapmap]
rs17466969	1.00[JPT][hapmap]
rs17467081	1.00[JPT][hapmap]
rs17483857	1.00[JPT][hapmap]
rs17483996	1.00[JPT][hapmap]
rs17484176	1.00[JPT][hapmap]
rs17489365	1.00[JPT][hapmap]
rs17489410	1.00[JPT][hapmap]
rs17489417	1.00[JPT][hapmap]
rs17489466	1.00[JPT][hapmap]
rs17489501	1.00[JPT][hapmap]
rs17489583	1.00[JPT][hapmap]
rs17489590	1.00[JPT][hapmap]
rs17489597	1.00[JPT][hapmap]
rs17489638	1.00[JPT][hapmap]
rs17489869	1.00[JPT][hapmap]
rs17490006	1.00[JPT][hapmap]
rs17490334	1.00[JPT][hapmap]
rs17490341	1.00[JPT][hapmap]
rs17490599	1.00[JPT][hapmap]
rs17490678	1.00[YRI][hapmap]
rs17490692	1.00[YRI][hapmap]
rs17490769	1.00[JPT][hapmap]
rs17490796	1.00[JPT][hapmap]
rs17490810	1.00[JPT][hapmap]
rs17491047	1.00[JPT][hapmap]
rs17491061	1.00[JPT][hapmap]
rs17491068	1.00[JPT][hapmap]
rs17491180	1.00[JPT][hapmap]
rs17491340	1.00[JPT][hapmap]
rs17491445	1.00[JPT][hapmap]
rs17491515	1.00[JPT][hapmap]
rs17491529	1.00[JPT][hapmap]
rs17491638	1.00[JPT][hapmap]
rs17491807	1.00[JPT][hapmap]
rs17491835	1.00[JPT][hapmap]
rs17491863	1.00[JPT][hapmap]
rs17492110	1.00[JPT][hapmap]
rs17492145	1.00[JPT][hapmap]
rs17492194	1.00[JPT][hapmap]
rs17518155	1.00[JPT][hapmap]
rs17518204	1.00[JPT][hapmap]
rs17518232	1.00[JPT][hapmap]
rs17518343	1.00[JPT][hapmap]
rs17518413	1.00[JPT][hapmap]
rs17518420	1.00[JPT][hapmap]
rs17518532	1.00[JPT][hapmap]
rs17518910	1.00[JPT][hapmap]
rs17519531	1.00[JPT][hapmap]
rs17519566	1.00[JPT][hapmap]
rs17519580	1.00[JPT][hapmap]
rs17519671	1.00[JPT][hapmap]
rs17519811	1.00[JPT][hapmap]
rs17519825	1.00[JPT][hapmap]
rs17519832	1.00[JPT][hapmap]
rs17519985	1.00[JPT][hapmap]
rs17520020	1.00[JPT][hapmap]
rs17520278	1.00[JPT][hapmap]
rs17520292	1.00[JPT][hapmap]
rs17520515	1.00[JPT][hapmap]
rs17520620	1.00[JPT][hapmap]
rs17520956	1.00[JPT][hapmap]
rs17521026	1.00[JPT][hapmap]
rs17521296	1.00[JPT][hapmap]
rs17521316	1.00[JPT][hapmap]
rs28365178	1.00[JPT][hapmap]
rs28365191	1.00[JPT][hapmap]
rs28365203	1.00[JPT][hapmap]
rs28365211	1.00[JPT][hapmap]
rs28365221	1.00[JPT][hapmap]
rs28365226	1.00[JPT][hapmap]
rs28365233	1.00[JPT][hapmap]
rs28365242	1.00[JPT][hapmap]
rs28365690	1.00[JPT][hapmap]

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1045408	chr12:40620554-40664424	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	nsv1042967	chr12:40629636-40710319	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40619600-40661000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:40619600-40678400	Weak transcription	Right Ventricle	heart
3	chr12:40619800-40658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:40620800-40648000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:40620800-40659200	Weak transcription	Brain Anterior Caudate	brain
6	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
7	chr12:40621000-40659800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:40621000-40661200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:40622800-40661000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
11	chr12:40630600-40669400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:40632000-40655200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:40632000-40656000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr12:40633400-40654200	Weak transcription	Aorta	Aorta
16	chr12:40635000-40647400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:40635000-40647400	Weak transcription	Lung	lung
18	chr12:40635200-40648200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:40636200-40648000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:40636200-40648200	Weak transcription	NHDF-Ad	bronchial
21	chr12:40640200-40680400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
23	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
24	chr12:40641200-40662800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:40642200-40682400	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:40643000-40647400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:40643000-40659200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:40643400-40655200	Strong transcription	Primary B cells from cord blood	blood
29	chr12:40643600-40647400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:40643600-40649200	Strong transcription	Liver	Liver
31	chr12:40643800-40652000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr12:40644600-40648200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:40644600-40648600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:40645400-40649600	Strong transcription	Adipose Nuclei	Adipose
35	chr12:40646600-40648600	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:40646600-40649000	Strong transcription	Ovary	ovary
37	chr12:40646800-40648200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:40646800-40658000	Weak transcription	A549	lung
39	chr12:40647000-40653000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:40647200-40648400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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