Variant report

Variant	rs17442206
Chromosome Location	chr12:40449705-40449706
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	chr12:40445246..40446962-chr12:40448695..40451443,2	MCF-7	breast:
2	12:40441273-40454218..12:40703633-40711447	GM12878	blood:

Variant related genes	Relation type
ENSG00000188906	Chromatin interaction

rs_ID	r²[population]
rs12368785	1.00[JPT][hapmap]
rs12368891	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]
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]
rs17483857	1.00[JPT][hapmap]
rs17483996	1.00[JPT][hapmap]
rs17489170	1.00[JPT][hapmap]
rs17489218	1.00[JPT][hapmap]
rs17489225	1.00[JPT][hapmap]
rs17489246	1.00[JPT][hapmap]
rs17489253	1.00[JPT][hapmap]
rs17489267	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]
rs17518057	1.00[JPT][hapmap]
rs17518071	1.00[JPT][hapmap]
rs17518141	1.00[JPT][hapmap]
rs17518148	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]
rs17519615	1.00[JPT][hapmap]
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]
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]
rs28370750	1.00[JPT][hapmap]
rs28370751	1.00[JPT][hapmap]
rs28370755	1.00[JPT][hapmap]
rs28370764	1.00[JPT][hapmap]
rs28370765	1.00[JPT][hapmap]
rs28370767	1.00[JPT][hapmap]
rs28370768	1.00[JPT][hapmap]
rs28370771	1.00[JPT][hapmap]
rs28370772	1.00[JPT][hapmap]
rs28370776	1.00[JPT][hapmap]
rs28370779	1.00[JPT][hapmap]
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]

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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40421600-40453400	Weak transcription	Left Ventricle	heart
2	chr12:40426400-40452800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:40428000-40452600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:40442200-40451400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:40444000-40453400	Weak transcription	Right Ventricle	heart
6	chr12:40447600-40450000	Enhancers	NHLF	lung
7	chr12:40448400-40450000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:40448800-40450400	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:40449000-40450600	Enhancers	Hela-S3	cervix
10	chr12:40449200-40450600	Enhancers	A549	lung
11	chr12:40449200-40452400	Weak transcription	Brain Angular Gyrus	brain
12	chr12:40449200-40452400	Weak transcription	Brain Anterior Caudate	brain
13	chr12:40449200-40452600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:40449200-40457000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:40449400-40450400	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:40449400-40450600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr12:40449400-40452000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:40449400-40452200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:40449400-40452400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:40449400-40452400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:40449400-40452600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:40449400-40452600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:40449400-40452600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:40449600-40452600	Weak transcription	Rectal Smooth Muscle	rectum

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