Variant report

Variant	rs61811222
Chromosome Location	chr1:180796141-180796142
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180509296..180511935-chr1:180795313..180796906,2	K562	blood:
2	chr1:180795503..180797239-chr1:180804476..180806029,2	K562	blood:

Variant related genes	Relation type
ENSG00000143324	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11487432	0.84[EUR][1000 genomes]
rs12089469	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17301405	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17301581	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17301602	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17301762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17301936	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17302040	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17302075	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17302102	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17373425	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17373501	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17373660	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17374151	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3845409	0.83[AMR][1000 genomes]
rs3908047	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55960112	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59077359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809308	0.96[EUR][1000 genomes]
rs61809311	0.96[EUR][1000 genomes]
rs61809312	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809314	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809317	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809334	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61809342	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809345	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809347	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809350	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809351	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809352	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809353	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809354	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809355	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809356	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809357	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809358	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811160	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811202	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811223	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811224	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811225	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811227	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61811245	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811248	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6664966	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6674012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6681637	0.88[EUR][1000 genomes]
rs6697299	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72707419	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72707494	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72721001	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72723004	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723006	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723010	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72723014	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72723023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723035	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723043	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9725163	1.00[AMR][1000 genomes];0.83[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	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180713000-180814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:180755400-180803800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:180755400-180820400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:180756800-180810200	Weak transcription	Fetal Brain Male	brain
5	chr1:180758000-180804000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:180761400-180796400	Weak transcription	HMEC	breast
7	chr1:180761400-180804600	Weak transcription	Aorta	Aorta
8	chr1:180763600-180806800	Weak transcription	Psoas Muscle	Psoas
9	chr1:180767400-180820400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:180768000-180812000	Weak transcription	Pancreas	Pancrea
11	chr1:180769000-180802000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:180771000-180813600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:180772000-180823200	Weak transcription	Fetal Stomach	stomach
14	chr1:180772200-180801800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:180773000-180799800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:180773000-180802200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:180773400-180849200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:180773800-180796600	Weak transcription	Spleen	Spleen
19	chr1:180773800-180853200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:180774000-180806800	Weak transcription	Placenta	Placenta
21	chr1:180774400-180797200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:180775000-180831600	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:180775600-180796400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:180776400-180798400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:180776400-180801800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:180776600-180801800	Weak transcription	Dnd41	blood
27	chr1:180778400-180799400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:180778600-180805600	Weak transcription	Brain Germinal Matrix	brain
29	chr1:180779000-180807400	Weak transcription	Right Ventricle	heart
30	chr1:180779800-180850800	Weak transcription	Small Intestine	intestine
31	chr1:180780000-180801600	Weak transcription	Brain Angular Gyrus	brain
32	chr1:180781600-180801600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:180781600-180805600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:180781800-180796200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:180781800-180807000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:180781800-180810400	Weak transcription	HSMM	muscle
37	chr1:180782200-180799800	Weak transcription	Ovary	ovary
38	chr1:180782200-180801800	Weak transcription	Adipose Nuclei	Adipose
39	chr1:180782200-180817800	Weak transcription	Lung	lung
40	chr1:180782600-180809000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:180783000-180801800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:180783000-180802400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:180783400-180802000	Weak transcription	Liver	Liver
44	chr1:180784400-180797200	Weak transcription	Fetal Intestine Large	intestine
45	chr1:180784800-180811600	Weak transcription	HSMMtube	muscle
46	chr1:180785200-180796400	Weak transcription	HepG2	liver
47	chr1:180785600-180805400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:180785800-180804000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:180789600-180809200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:180790400-180801800	Weak transcription	Fetal Lung	lung

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