Variant report

Variant	rs57025730
Chromosome Location	chr12:10743464-10743465
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	chr12:10742012..10743603-chr12:10874316..10876559,2	MCF-7	breast:
2	chr12:10743385..10746001-chr12:10752818..10754982,2	K562	blood:

Variant related genes	Relation type
ENSG00000060138	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11053888	0.81[AMR][1000 genomes]
rs11053890	0.81[AMR][1000 genomes]
rs11829878	0.80[AFR][1000 genomes]
rs11834918	0.90[AFR][1000 genomes]
rs11836109	0.91[AMR][1000 genomes]
rs11836264	0.91[AMR][1000 genomes]
rs11836752	0.80[AFR][1000 genomes]
rs11837460	0.80[AFR][1000 genomes]
rs11837508	0.80[AFR][1000 genomes]
rs11838020	0.80[AFR][1000 genomes]
rs12299672	0.81[AMR][1000 genomes]
rs12302213	0.81[AMR][1000 genomes]
rs12315090	0.81[AMR][1000 genomes]
rs12319401	0.81[AMR][1000 genomes]
rs16921859	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2198964	0.81[AMR][1000 genomes]
rs35744486	0.80[AFR][1000 genomes]
rs55785135	0.91[AMR][1000 genomes]
rs56376856	0.80[AFR][1000 genomes]
rs56801111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57035205	0.91[AMR][1000 genomes]
rs57430351	0.90[AFR][1000 genomes]
rs57578974	0.80[AFR][1000 genomes]
rs58048825	0.80[AFR][1000 genomes]
rs58067632	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs58677311	0.91[AMR][1000 genomes]
rs59613394	0.91[AMR][1000 genomes]
rs60124900	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs60400937	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs60461379	0.91[AMR][1000 genomes]
rs61143136	0.91[AMR][1000 genomes]
rs61345517	0.90[AFR][1000 genomes]
rs61473048	0.91[AMR][1000 genomes]
rs6488311	0.91[AMR][1000 genomes]
rs7303086	0.91[AMR][1000 genomes]
rs7303851	0.92[AFR][1000 genomes]
rs7308730	0.91[AMR][1000 genomes]
rs7316572	0.91[AMR][1000 genomes]
rs73252005	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73254038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264201	0.90[AFR][1000 genomes]
rs73266182	0.94[AFR][1000 genomes]
rs73266183	0.90[AFR][1000 genomes]
rs74060455	0.91[AMR][1000 genomes]
rs7971609	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039120	chr12:10675930-10755446	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv999821	chr12:10742119-10749949	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10725600-10743600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:10725600-10765000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:10725800-10753400	Weak transcription	Osteobl	bone
4	chr12:10725800-10761400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:10726400-10759800	Weak transcription	NHLF	lung
6	chr12:10726800-10756600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:10730000-10762000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:10730600-10764800	Weak transcription	Lung	lung
9	chr12:10730800-10746200	Weak transcription	Fetal Thymus	thymus
10	chr12:10730800-10758400	Weak transcription	NHEK	skin
11	chr12:10731200-10744000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:10731200-10756400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:10731400-10753200	Weak transcription	Primary B cells from cord blood	blood
14	chr12:10731600-10760800	Weak transcription	Fetal Brain Female	brain
15	chr12:10732000-10759600	Weak transcription	Fetal Intestine Large	intestine
16	chr12:10732000-10759800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:10732200-10745800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:10732200-10759600	Weak transcription	Left Ventricle	heart
19	chr12:10732200-10761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:10732200-10764800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:10732400-10743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:10732400-10759600	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:10732400-10764200	Weak transcription	Pancreas	Pancrea
24	chr12:10732600-10759600	Weak transcription	HMEC	breast
25	chr12:10732800-10759600	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:10733400-10743800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:10733400-10746000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:10733400-10748000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:10733400-10759600	Weak transcription	HUVEC	blood vessel
30	chr12:10733600-10744200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:10733600-10759800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:10733800-10743800	Weak transcription	Adipose Nuclei	Adipose
33	chr12:10733800-10753400	Weak transcription	Dnd41	blood
34	chr12:10733800-10760000	Weak transcription	Fetal Brain Male	brain
35	chr12:10734000-10747600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:10734000-10753200	Weak transcription	Liver	Liver
37	chr12:10734000-10759400	Weak transcription	Fetal Lung	lung
38	chr12:10734000-10764000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:10734000-10764600	Weak transcription	Thymus	Thymus
40	chr12:10734200-10743800	Weak transcription	Aorta	Aorta
41	chr12:10734200-10743800	Weak transcription	GM12878-XiMat	blood
42	chr12:10734200-10749200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:10734200-10755200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:10734200-10757400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:10734200-10759400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:10734200-10759400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr12:10734200-10759400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:10734200-10759600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:10734200-10762200	Weak transcription	Fetal Muscle Leg	muscle
50	chr12:10734200-10764000	Weak transcription	Fetal Stomach	stomach

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