Variant report

Variant	rs17518204
Chromosome Location	chr12:40455269-40455270
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:40454480..40456141-chr12:40458751..40460904,2	K562	blood:
2	chr12:40442565..40445105-chr12:40454230..40455895,2	K562	blood:
3	chr12:40454110..40455727-chr12:40462152..40463855,2	K562	blood:

Variant related genes	Relation type
ENSG00000229014	Chromatin interaction

rs_ID	r²[population]
rs12368785	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]
rs17458093	1.00[JPT][hapmap]
rs17458121	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]
rs17483857	1.00[JPT][hapmap]
rs17483996	1.00[JPT][hapmap]
rs17484176	1.00[JPT][hapmap]
rs17489170	1.00[JPT][hapmap]
rs17489218	1.00[JPT][hapmap]
rs17489225	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17489246	1.00[JPT][hapmap]
rs17489253	1.00[JPT][hapmap]
rs17489267	1.00[JPT][hapmap]
rs17489302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17489365	1.00[JPT][hapmap]
rs17489379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
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]
rs17489666	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17489715	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17489722	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17489869	1.00[JPT][hapmap]
rs17489889	1.00[AMR][1000 genomes]
rs17490006	1.00[JPT][hapmap]
rs17490334	1.00[JPT][hapmap]
rs17490341	1.00[JPT][hapmap]
rs17490418	1.00[AMR][1000 genomes]
rs17490578	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17490585	1.00[AMR][1000 genomes]
rs17490599	1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17490620	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17490769	1.00[JPT][hapmap]
rs17490796	1.00[JPT][hapmap]
rs17490810	1.00[JPT][hapmap]
rs17518014	1.00[AMR][1000 genomes]
rs17518050	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17518057	1.00[JPT][hapmap]
rs17518071	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17518141	1.00[JPT][hapmap]
rs17518148	1.00[JPT][hapmap]
rs17518155	1.00[JPT][hapmap]
rs17518232	1.00[JPT][hapmap]
rs17518253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17518273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17518343	1.00[JPT][hapmap]
rs17518364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17518413	1.00[JPT][hapmap]
rs17518420	1.00[JPT][hapmap]
rs17518532	1.00[JPT][hapmap]
rs17518770	1.00[AMR][1000 genomes]
rs17518805	1.00[AMR][1000 genomes]
rs17518910	1.00[JPT][hapmap]
rs17518992	1.00[AMR][1000 genomes]
rs17519531	1.00[JPT][hapmap]
rs17519566	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17519580	1.00[JPT][hapmap]
rs17519615	1.00[JPT][hapmap]
rs2708450	1.00[AMR][1000 genomes]
rs2708451	1.00[AMR][1000 genomes]
rs28365178	1.00[JPT][hapmap]
rs28365191	1.00[JPT][hapmap]
rs28365203	1.00[JPT][hapmap]
rs28365211	1.00[JPT][hapmap]
rs28365682	1.00[JPT][hapmap]
rs28365690	1.00[JPT][hapmap]
rs28370601	1.00[JPT][hapmap]
rs28370605	1.00[JPT][hapmap]
rs28370608	1.00[JPT][hapmap]
rs28370616	1.00[JPT][hapmap]
rs28370643	1.00[JPT][hapmap]
rs28370649	1.00[JPT][hapmap]
rs28370652	1.00[JPT][hapmap]
rs28370655	1.00[JPT][hapmap]
rs28370658	1.00[JPT][hapmap]
rs28370665	1.00[JPT][hapmap]
rs28370670	1.00[JPT][hapmap]
rs28370672	1.00[JPT][hapmap]
rs28370673	1.00[JPT][hapmap]
rs28370682	1.00[JPT][hapmap]
rs28370686	1.00[JPT][hapmap]
rs28370688	1.00[AMR][1000 genomes]
rs28370690	1.00[JPT][hapmap]
rs28370692	1.00[JPT][hapmap]
rs28370696	1.00[JPT][hapmap]
rs28370700	1.00[JPT][hapmap]
rs28370707	1.00[JPT][hapmap]
rs28370718	1.00[JPT][hapmap]
rs28370731	1.00[JPT][hapmap]
rs28370737	1.00[JPT][hapmap]
rs28370744	1.00[JPT][hapmap]
rs28370745	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370748	1.00[AMR][1000 genomes]
rs28370750	1.00[JPT][hapmap]
rs28370751	1.00[JPT][hapmap]
rs28370755	1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370758	1.00[AMR][1000 genomes]
rs28370764	1.00[JPT][hapmap]
rs28370765	1.00[JPT][hapmap]
rs28370767	1.00[JPT][hapmap]
rs28370768	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs28370771	1.00[JPT][hapmap]
rs28370772	1.00[JPT][hapmap]
rs28370776	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs28370777	1.00[AMR][1000 genomes]
rs28370778	1.00[AMR][1000 genomes]
rs28370779	1.00[JPT][hapmap]
rs28370780	1.00[AMR][1000 genomes]
rs28370783	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370786	1.00[AMR][1000 genomes]
rs28370787	1.00[JPT][hapmap]
rs28370793	1.00[JPT][hapmap]
rs28370796	1.00[JPT][hapmap]
rs28370800	1.00[JPT][hapmap]
rs28370806	1.00[JPT][hapmap]
rs28370808	1.00[JPT][hapmap]
rs28370813	1.00[JPT][hapmap]
rs28370818	1.00[JPT][hapmap]
rs28370823	1.00[JPT][hapmap]
rs28370826	1.00[JPT][hapmap]
rs4405389	1.00[JPT][hapmap]
rs7306747	1.00[AMR][1000 genomes]
rs7307258	1.00[AMR][1000 genomes]

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40449200-40457000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:40452000-40458600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:40452800-40460000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:40453000-40455600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:40453000-40457000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:40453000-40457400	Weak transcription	Brain Anterior Caudate	brain
7	chr12:40453200-40456600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:40453200-40457200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:40453400-40459600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:40453600-40457000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:40453600-40459400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:40453800-40457400	Weak transcription	Brain Germinal Matrix	brain
13	chr12:40453800-40487400	Weak transcription	Left Ventricle	heart
14	chr12:40454200-40457000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:40454800-40455600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr12:40455000-40457200	Enhancers	Colon Smooth Muscle	Colon
17	chr12:40455200-40456000	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links