Variant report

Variant	rs72785501
Chromosome Location	chr2:11363676-11363677
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	chr2:11361664..11363865-chr2:11483951..11486534,2	K562	blood:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 93 )
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]
rs72785478	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]
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:2 , 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	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:119 , 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	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
5	chr2:11314600-11364200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:11315800-11367400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:11319000-11364200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:11320800-11377000	Strong transcription	HepG2	liver
9	chr2:11328800-11367600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:11329200-11364400	Strong transcription	Liver	Liver
11	chr2:11329200-11369200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:11333400-11386200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:11337000-11367400	Weak transcription	Brain Angular Gyrus	brain
14	chr2:11338400-11367400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:11338600-11373400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:11339800-11382600	Weak transcription	Esophagus	oesophagus
17	chr2:11340600-11369400	Weak transcription	Colonic Mucosa	Colon
18	chr2:11341600-11384400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:11344400-11368400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:11345200-11364400	Strong transcription	Adipose Nuclei	Adipose
21	chr2:11346400-11364400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:11346400-11364400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:11346800-11364600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:11346800-11366400	Strong transcription	HSMM	muscle
25	chr2:11352600-11411200	Weak transcription	Thymus	Thymus
26	chr2:11352800-11424000	Weak transcription	HSMMtube	muscle
27	chr2:11353200-11374800	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:11354200-11367400	Weak transcription	Brain Anterior Caudate	brain
29	chr2:11354200-11376400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:11354400-11364400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:11354400-11382600	Weak transcription	Ovary	ovary
32	chr2:11354400-11388000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:11354600-11365200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:11354600-11369800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:11354600-11423800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:11355200-11363800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:11355200-11364200	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:11355200-11379800	Weak transcription	Psoas Muscle	Psoas
39	chr2:11355400-11379800	Weak transcription	NHEK	skin
40	chr2:11355600-11364600	Weak transcription	Fetal Brain Male	brain
41	chr2:11355800-11365200	Weak transcription	NHLF	lung
42	chr2:11355800-11367400	Weak transcription	Brain Substantia Nigra	brain
43	chr2:11355800-11376200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:11356000-11366800	Weak transcription	GM12878-XiMat	blood
45	chr2:11356200-11363800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:11356400-11367600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:11356400-11371800	Weak transcription	Primary T cells from cord blood	blood
48	chr2:11356800-11367600	Weak transcription	Fetal Brain Female	brain
49	chr2:11357000-11365800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:11357000-11366400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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