Variant report

Variant	rs72785502
Chromosome Location	chr2:11366409-11366410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11358381..11360784-chr2:11365018..11367149,2	K562	blood:
2	chr2:11365381..11369172-chr2:11380510..11384403,4	K562	blood:
3	chr2:11365433..11366937-chr2:11373686..11375238,2	MCF-7	breast:
4	chr2:11358381..11364018-chr2:11364236..11368158,7	K562	blood:

Variant related genes	Relation type
ENSG00000207267	Chromatin interaction
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]
rs72785501	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:113 , 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	chr2:11315800-11367400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:11320800-11377000	Strong transcription	HepG2	liver
7	chr2:11328800-11367600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:11329200-11369200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:11333400-11386200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:11337000-11367400	Weak transcription	Brain Angular Gyrus	brain
11	chr2:11338400-11367400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:11338600-11373400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:11339800-11382600	Weak transcription	Esophagus	oesophagus
14	chr2:11340600-11369400	Weak transcription	Colonic Mucosa	Colon
15	chr2:11341600-11384400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:11344400-11368400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:11352600-11411200	Weak transcription	Thymus	Thymus
18	chr2:11352800-11424000	Weak transcription	HSMMtube	muscle
19	chr2:11353200-11374800	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:11354200-11367400	Weak transcription	Brain Anterior Caudate	brain
21	chr2:11354200-11376400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:11354400-11382600	Weak transcription	Ovary	ovary
23	chr2:11354400-11388000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:11354600-11369800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr2:11354600-11423800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:11355200-11379800	Weak transcription	Psoas Muscle	Psoas
27	chr2:11355400-11379800	Weak transcription	NHEK	skin
28	chr2:11355800-11367400	Weak transcription	Brain Substantia Nigra	brain
29	chr2:11355800-11376200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:11356000-11366800	Weak transcription	GM12878-XiMat	blood
31	chr2:11356400-11367600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:11356400-11371800	Weak transcription	Primary T cells from cord blood	blood
33	chr2:11356800-11367600	Weak transcription	Fetal Brain Female	brain
34	chr2:11357000-11377400	Weak transcription	Brain Germinal Matrix	brain
35	chr2:11357800-11379800	Weak transcription	HMEC	breast
36	chr2:11358800-11367800	Weak transcription	HUVEC	blood vessel
37	chr2:11359000-11382000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:11359200-11366800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:11360400-11396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:11360800-11375200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:11360800-11382800	Weak transcription	Spleen	Spleen
42	chr2:11361000-11367200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:11361000-11369800	Weak transcription	Lung	lung
44	chr2:11361000-11372200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:11361000-11372200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:11361000-11372200	Weak transcription	Fetal Stomach	stomach
47	chr2:11361000-11374800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:11361000-11378000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:11361000-11379600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:11361000-11380000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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