Variant report

Variant	rs72787669
Chromosome Location	chr2:11407643-11407644
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11407368..11409021-chr2:11484083..11485849,2	K562	blood:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10205141	0.89[EUR][1000 genomes]
rs41264191	1.00[AMR][1000 genomes];0.92[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];0.81[EUR][1000 genomes]
rs55750834	1.00[AMR][1000 genomes]
rs55841255	1.00[AMR][1000 genomes]
rs55932113	1.00[AMR][1000 genomes];0.92[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];0.89[EUR][1000 genomes]
rs72785456	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785460	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785462	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72785465	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785466	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785468	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785469	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785471	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785473	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785474	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785475	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785476	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785478	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785479	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785480	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785483	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785487	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785488	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785489	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785491	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785496	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785497	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785500	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785501	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785502	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787605	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787608	0.89[EUR][1000 genomes]
rs72787609	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787611	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787619	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787623	1.00[AMR][1000 genomes];0.92[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]
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];0.81[EUR][1000 genomes]
rs72789514	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789516	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789517	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789519	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789523	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789524	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789527	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789528	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789529	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789531	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789533	0.81[EUR][1000 genomes]
rs72789534	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789535	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789536	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789537	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789538	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789539	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789543	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789544	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789546	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789547	1.00[AMR][1000 genomes]
rs7422435	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv2607	chr2:11381341-11409932	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1827245	chr2:11385834-11442583	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
2	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
3	chr2:11352600-11411200	Weak transcription	Thymus	Thymus
4	chr2:11352800-11424000	Weak transcription	HSMMtube	muscle
5	chr2:11354600-11423800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:11361000-11410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:11361000-11411200	Weak transcription	Fetal Thymus	thymus
8	chr2:11361000-11416600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:11361200-11425600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:11364400-11423800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:11372600-11423800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:11376200-11410800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:11378800-11428600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:11382800-11410200	Weak transcription	Primary B cells from cord blood	blood
15	chr2:11383000-11424000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:11383200-11409800	Weak transcription	Primary T cells from cord blood	blood
17	chr2:11383400-11410400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:11385000-11411000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:11387800-11417400	Weak transcription	Placenta	Placenta
20	chr2:11388600-11411200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:11389600-11411000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:11389800-11410800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:11389800-11423800	Weak transcription	Colonic Mucosa	Colon
24	chr2:11391400-11410800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:11391400-11410800	Weak transcription	NHLF	lung
26	chr2:11391400-11411200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:11391400-11412600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:11391400-11423800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:11391400-11423800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:11391400-11423800	Weak transcription	Ovary	ovary
31	chr2:11391600-11411200	Weak transcription	Osteobl	bone
32	chr2:11391600-11414600	Weak transcription	HUVEC	blood vessel
33	chr2:11391600-11418000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:11391600-11424000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:11391600-11424000	Weak transcription	NHEK	skin
36	chr2:11392400-11423800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:11394600-11417600	Weak transcription	Fetal Lung	lung
38	chr2:11394800-11410600	Weak transcription	A549	lung
39	chr2:11394800-11411000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:11394800-11420400	Weak transcription	Small Intestine	intestine
41	chr2:11394800-11423800	Weak transcription	Fetal Kidney	kidney
42	chr2:11394800-11432800	Weak transcription	Right Ventricle	heart
43	chr2:11395400-11417400	Weak transcription	Brain Germinal Matrix	brain
44	chr2:11396400-11413200	Strong transcription	HepG2	liver
45	chr2:11396600-11423800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:11397600-11407800	Weak transcription	Fetal Stomach	stomach
47	chr2:11397600-11409200	Weak transcription	Fetal Intestine Small	intestine
48	chr2:11397600-11410400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:11397600-11412600	Weak transcription	Left Ventricle	heart
50	chr2:11397600-11412600	Weak transcription	Lung	lung

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