Variant report

Variant	rs72787690
Chromosome Location	chr2:11425844-11425845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11425026..11427134-chr2:11483302..11485357,2	K562	blood:
2	chr2:11420942..11423564-chr2:11424238..11426360,2	K562	blood:

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	0.85[EUR][1000 genomes]
rs41264191	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41264193	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55657626	1.00[AMR][1000 genomes]
rs55737637	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55750834	1.00[AMR][1000 genomes]
rs55841255	1.00[AMR][1000 genomes]
rs55932113	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56070302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56268206	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56393775	1.00[AMR][1000 genomes];0.89[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];0.85[EUR][1000 genomes]
rs72785456	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72785460	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785462	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72785465	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785466	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785468	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785469	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785471	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785473	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785474	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785475	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785476	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785478	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785479	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785480	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785483	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785487	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72785488	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785489	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785491	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785496	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785497	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785500	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785501	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785502	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787605	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787608	0.85[EUR][1000 genomes]
rs72787609	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787611	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787619	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787623	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787626	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72787632	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787638	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787642	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787646	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787651	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787659	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787662	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787664	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787665	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787669	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787680	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787682	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787684	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787686	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787687	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789506	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789514	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789516	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789517	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789519	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789523	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789524	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789527	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789528	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72789529	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789531	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789533	0.92[EUR][1000 genomes]
rs72789534	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789535	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789536	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789537	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789538	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789539	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789543	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789544	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789546	1.00[AMR][1000 genomes];0.92[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	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	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
2	chr2:11378800-11428600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:11394800-11432800	Weak transcription	Right Ventricle	heart
4	chr2:11410400-11433000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:11410800-11432800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:11411200-11432800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:11411400-11426400	Weak transcription	Gastric	stomach
8	chr2:11413000-11427400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:11413000-11427800	Weak transcription	Aorta	Aorta
10	chr2:11413000-11431400	Weak transcription	Lung	lung
11	chr2:11415400-11428800	Strong transcription	HepG2	liver
12	chr2:11415600-11428600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:11416200-11426400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:11416200-11428000	Weak transcription	Stomach Mucosa	stomach
15	chr2:11418000-11431000	Weak transcription	Psoas Muscle	Psoas
16	chr2:11418800-11428400	Weak transcription	NHLF	lung
17	chr2:11420800-11430400	Weak transcription	Small Intestine	intestine
18	chr2:11420800-11433000	Weak transcription	Spleen	Spleen
19	chr2:11421000-11426600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:11422200-11427800	Weak transcription	HUVEC	blood vessel
21	chr2:11422800-11427200	Strong transcription	Fetal Intestine Large	intestine
22	chr2:11423200-11426000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:11423600-11426000	Weak transcription	Esophagus	oesophagus
24	chr2:11423600-11426600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:11423800-11426000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:11423800-11426000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:11423800-11426000	ZNF genes & repeats	Dnd41	blood
28	chr2:11423800-11426200	Strong transcription	Fetal Thymus	thymus
29	chr2:11423800-11426200	Strong transcription	HSMM	muscle
30	chr2:11423800-11426600	Strong transcription	Primary T cells from cord blood	blood
31	chr2:11423800-11426600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:11423800-11426600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:11423800-11426600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:11423800-11426600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:11423800-11426600	Strong transcription	Placenta	Placenta
36	chr2:11423800-11426600	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr2:11423800-11426600	ZNF genes & repeats	GM12878-XiMat	blood
38	chr2:11423800-11426800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:11423800-11427200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:11423800-11427200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr2:11423800-11427200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr2:11424000-11426000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:11424000-11426000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr2:11424000-11426000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:11424000-11426600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:11424000-11427200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:11424000-11428200	Weak transcription	Brain Angular Gyrus	brain
48	chr2:11424200-11426400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:11424200-11426600	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:11424200-11426600	Strong transcription	Fetal Lung	lung

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