Variant report

Variant	rs73161280
Chromosome Location	chr2:10482646-10482647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10468465..10470568-chr2:10481645..10483677,2	K562	blood:
2	chr2:10482196..10484399-chr2:10524859..10527716,2	K562	blood:
3	chr2:10482073..10484136-chr2:10509588..10511163,2	K562	blood:
4	chr2:10481938..10484787-chr2:10588260..10589852,2	K562	blood:

Variant related genes	Relation type
ENSG00000257135	Chromatin interaction
ENSG00000115758	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11891604	0.84[EUR][1000 genomes]
rs12328290	0.89[EUR][1000 genomes]
rs13402238	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1558628	0.89[EUR][1000 genomes]
rs1558629	0.89[EUR][1000 genomes]
rs55638790	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56261863	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57128023	0.85[EUR][1000 genomes]
rs59408255	0.89[EUR][1000 genomes]
rs60661460	0.97[EUR][1000 genomes]
rs6735172	0.91[EUR][1000 genomes]
rs6743846	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6745569	0.84[EUR][1000 genomes]
rs6751416	0.84[EUR][1000 genomes]
rs6755410	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6758633	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6758955	0.89[EUR][1000 genomes]
rs73161267	0.89[EUR][1000 genomes]
rs73161277	0.88[EUR][1000 genomes]
rs73161279	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7557360	0.82[EUR][1000 genomes]
rs7581642	0.87[EUR][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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873641	chr2:10480415-10544640	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10467200-10482800	Weak transcription	Psoas Muscle	Psoas
2	chr2:10472200-10494200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:10472400-10486200	Weak transcription	Esophagus	oesophagus
4	chr2:10473000-10483400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:10473000-10484400	Weak transcription	Right Atrium	heart
6	chr2:10473000-10484800	Weak transcription	Osteobl	bone
7	chr2:10473000-10486000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:10473000-10486000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:10473000-10486000	Weak transcription	HUVEC	blood vessel
10	chr2:10473000-10489200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:10473400-10484800	Weak transcription	Small Intestine	intestine
12	chr2:10473400-10496200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:10473600-10487200	Weak transcription	Colonic Mucosa	Colon
14	chr2:10473800-10483400	Weak transcription	Ovary	ovary
15	chr2:10475600-10483800	Weak transcription	Fetal Lung	lung
16	chr2:10475600-10485200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:10475800-10482800	Weak transcription	Brain Anterior Caudate	brain
18	chr2:10475800-10482800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:10475800-10483000	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:10475800-10483800	Weak transcription	Primary B cells from cord blood	blood
21	chr2:10475800-10484000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:10475800-10484200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:10475800-10486200	Weak transcription	HSMMtube	muscle
24	chr2:10476000-10485200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:10476400-10488600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr2:10478000-10483400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:10478200-10483000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:10478400-10484000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:10478800-10488400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:10479200-10483400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:10479200-10486000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:10479200-10487600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:10479800-10483000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr2:10479800-10483200	Enhancers	K562	blood
35	chr2:10480400-10482800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr2:10480400-10484200	Weak transcription	Fetal Kidney	kidney
37	chr2:10480400-10484400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:10480400-10486200	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:10480600-10482800	Weak transcription	Right Ventricle	heart
40	chr2:10480600-10485200	Weak transcription	Stomach Mucosa	stomach
41	chr2:10480600-10487200	Weak transcription	Fetal Intestine Large	intestine
42	chr2:10480600-10488200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr2:10480800-10482800	Weak transcription	Fetal Intestine Small	intestine
44	chr2:10480800-10484400	Weak transcription	NH-A	brain
45	chr2:10480800-10487600	Enhancers	A549	lung
46	chr2:10481000-10483000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:10481000-10483200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:10481000-10484000	Weak transcription	Fetal Thymus	thymus
49	chr2:10481000-10485000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:10481000-10485000	Weak transcription	Hela-S3	cervix

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