Variant report

Variant	rs72785478
Chromosome Location	chr2:11330246-11330247
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	chr2:11329062..11332354-chr2:11333253..11335976,4	K562	blood:
2	chr2:11330049..11333850-chr2:11334450..11338154,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10205141	0.96[EUR][1000 genomes]
rs41264191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41264193	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55657626	1.00[AMR][1000 genomes]
rs55737637	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55750834	1.00[AMR][1000 genomes]
rs55841255	1.00[AMR][1000 genomes]
rs55932113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56070302	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56268206	1.00[AMR][1000 genomes]
rs56393775	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72771303	1.00[AMR][1000 genomes]
rs72771305	1.00[AMR][1000 genomes]
rs72774840	1.00[AMR][1000 genomes]
rs72785455	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72785456	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72785460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785462	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72785465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785487	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72785488	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72785502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787608	0.96[EUR][1000 genomes]
rs72787609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787626	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72787632	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787638	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787642	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787646	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787651	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787659	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787662	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787664	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787665	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787669	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787680	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787682	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787684	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787686	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787687	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787689	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787690	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787693	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787695	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787697	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787698	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787701	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72789506	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789514	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789516	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789517	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789519	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789523	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789524	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789527	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789528	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789529	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789531	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789533	0.82[EUR][1000 genomes]
rs72789534	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789535	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789536	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789537	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789538	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789539	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789543	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789544	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789546	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789547	1.00[AMR][1000 genomes]
rs7422435	1.00[AMR][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	nsv1012083	chr2:11316299-11350604	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3395022	chr2:11316915-11426380	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1013570	chr2:11321519-11405246	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
2	chr2:11296800-11379800	Weak transcription	Small Intestine	intestine
3	chr2:11297600-11394400	Weak transcription	Right Ventricle	heart
4	chr2:11299200-11357000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:11301400-11330400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:11302400-11335600	Weak transcription	Lung	lung
7	chr2:11309800-11335600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:11310000-11337200	Weak transcription	Ovary	ovary
9	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
10	chr2:11314600-11332200	Weak transcription	Colonic Mucosa	Colon
11	chr2:11314600-11364200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:11315800-11335200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:11315800-11336200	Weak transcription	Brain Anterior Caudate	brain
14	chr2:11315800-11336400	Weak transcription	GM12878-XiMat	blood
15	chr2:11315800-11336600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:11315800-11339000	Weak transcription	Spleen	Spleen
17	chr2:11315800-11340400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:11315800-11367400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:11316000-11331200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:11316000-11332200	Weak transcription	Psoas Muscle	Psoas
21	chr2:11316000-11338000	Weak transcription	Brain Substantia Nigra	brain
22	chr2:11316200-11331200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:11316200-11332600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:11316200-11333000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:11316200-11336200	Weak transcription	Thymus	Thymus
26	chr2:11316200-11344400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:11316200-11354200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr2:11316400-11351800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:11316600-11339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:11317800-11332200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:11317800-11333000	Weak transcription	Fetal Brain Male	brain
32	chr2:11318400-11332600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:11318600-11330600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:11318600-11336200	Weak transcription	Brain Angular Gyrus	brain
35	chr2:11318600-11359200	Weak transcription	Fetal Heart	heart
36	chr2:11319000-11364200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:11319400-11332600	Weak transcription	Brain Germinal Matrix	brain
38	chr2:11319400-11334000	Strong transcription	Fetal Intestine Large	intestine
39	chr2:11320800-11377000	Strong transcription	HepG2	liver
40	chr2:11321000-11331200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:11321000-11332600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:11321800-11330400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:11323600-11331200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:11323800-11330400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:11325000-11336800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:11325600-11341000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:11325800-11334000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:11326000-11356600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:11326800-11331800	Weak transcription	HSMMtube	muscle
50	chr2:11326800-11332000	Weak transcription	Primary B cells from cord blood	blood

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