Variant report

Variant	rs5998068
Chromosome Location	chr22:32043835-32043836
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32012966-32043914..22:32347255-32351014	K562	blood:
2	22:31936958-31958600..22:32012966-32043914	GM12878	blood:
3	chr22:32042368..32044618-chr22:32056407..32059505,3	MCF-7	breast:
4	chr22:32041168..32045614-chr22:32055759..32058889,4	MCF-7	breast:
5	chr22:32037396..32038993-chr22:32043702..32046288,2	K562	blood:
6	22:32012966-32043914..22:32513817-32522138	K562	blood:
7	22:31829733-31836635..22:32012966-32043914	GM12878	blood:
8	chr22:32043778..32046511-chr22:32048746..32051348,2	K562	blood:
9	22:32012966-32043914..22:32665993-32670527	K562	blood:
10	chr22:31891416..31894088-chr22:32041423..32044046,2	MCF-7	breast:
11	22:31930706-31935473..22:32012966-32043914	GM12878	blood:
12	22:32012966-32043914..22:32529813-32538538	K562	blood:
13	22:32012966-32043914..22:32846948-32860159	K562	blood:
14	chr22:31742698..31744788-chr22:32041656..32043899,2	MCF-7	breast:
15	22:32012966-32043914..22:32360288-32405313	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184459	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000229169	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000224050	Chromatin interaction
ENSG00000213888	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000239674	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1013703	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap]
rs1076674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11703040	1.00[CHB][hapmap]
rs11703079	1.00[CHB][hapmap];1.00[MEX][hapmap];0.94[AMR][1000 genomes]
rs11703102	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703104	1.00[CHB][hapmap]
rs11703232	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11703275	1.00[CHB][hapmap]
rs11703798	0.90[AMR][1000 genomes]
rs11704129	1.00[CHB][hapmap]
rs11705235	1.00[CHB][hapmap];0.84[MEX][hapmap]
rs11705329	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap]
rs12157427	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12158002	1.00[CHB][hapmap];0.94[AMR][1000 genomes]
rs12159673	1.00[CHB][hapmap]
rs12160120	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12160737	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12166848	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs131222	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs131224	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs131226	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs131228	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs131231	0.92[MEX][hapmap]
rs131235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs131237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs131243	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap]
rs131246	1.00[CHB][hapmap]
rs131252	1.00[CHB][hapmap]
rs131254	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap]
rs140079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16989291	1.00[MEX][hapmap]
rs16989374	1.00[CHB][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes]
rs16989529	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs16989540	0.84[MEX][hapmap]
rs2040981	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2413054	0.85[MEX][hapmap]
rs3804088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56406828	0.94[AMR][1000 genomes]
rs5753682	0.85[MEX][hapmap]
rs5753753	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5994417	1.00[CHB][hapmap];0.90[AMR][1000 genomes]
rs5994424	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998063	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5998064	0.90[AMR][1000 genomes]
rs5998065	0.92[AMR][1000 genomes]
rs5998066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998071	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998074	0.92[MEX][hapmap]
rs5998079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5998080	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5998081	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5998082	0.84[AMR][1000 genomes]
rs5998084	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5998085	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5998089	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5998091	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5998093	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5998095	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5998098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998099	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998103	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5998114	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap]
rs5998115	0.84[MEX][hapmap]
rs5998133	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5998134	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5998135	1.00[CHB][hapmap]
rs60209974	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60669705	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62239167	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62239185	0.84[AMR][1000 genomes]
rs62239186	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62239187	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62239188	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62240684	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62240686	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62240687	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7289259	1.00[CHB][hapmap]
rs740227	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8136047	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8141719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8143084	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs81946	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9619221	0.92[AMR][1000 genomes]
rs9619222	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9619224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9621307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621316	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830290	chr22:32011225-32057964	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32027600-32044800	Weak transcription	Small Intestine	intestine
2	chr22:32032200-32046000	Weak transcription	Pancreas	Pancrea
3	chr22:32034400-32056400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:32035800-32046800	Strong transcription	Fetal Stomach	stomach
5	chr22:32036400-32050000	Weak transcription	Esophagus	oesophagus
6	chr22:32036400-32056400	Weak transcription	Colonic Mucosa	Colon
7	chr22:32037400-32046200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr22:32037400-32046800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr22:32037600-32048400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr22:32037600-32050000	Weak transcription	Psoas Muscle	Psoas
11	chr22:32038000-32046600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr22:32039200-32046400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:32039800-32046400	Genic enhancers	Placenta	Placenta
14	chr22:32040400-32047200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr22:32040600-32044400	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr22:32040600-32044600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:32040600-32046000	Strong transcription	Dnd41	blood
18	chr22:32040600-32046200	Strong transcription	Liver	Liver
19	chr22:32040600-32046400	Strong transcription	Primary T cells from cord blood	blood
20	chr22:32040600-32046400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr22:32040600-32046400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:32040600-32046800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:32040600-32047200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr22:32040800-32045000	Strong transcription	Brain Hippocampus Middle	brain
25	chr22:32040800-32046000	Strong transcription	Primary B cells from cord blood	blood
26	chr22:32040800-32046600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr22:32040800-32046800	Strong transcription	Fetal Brain Female	brain
28	chr22:32041000-32045800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr22:32041400-32045800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:32041400-32056400	Weak transcription	Ovary	ovary
31	chr22:32041600-32057400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:32041800-32047400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr22:32042000-32044000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:32042000-32044000	Genic enhancers	Fetal Intestine Large	intestine
35	chr22:32042000-32044200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr22:32042000-32044200	Strong transcription	Brain Cingulate Gyrus	brain
37	chr22:32042000-32044200	Enhancers	Hela-S3	cervix
38	chr22:32042000-32044400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr22:32042000-32044400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr22:32042000-32044400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr22:32042000-32044400	Genic enhancers	HSMM	muscle
42	chr22:32042000-32044400	Enhancers	NHLF	lung
43	chr22:32042000-32045200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr22:32042000-32046000	Strong transcription	Brain Anterior Caudate	brain
45	chr22:32042000-32046200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr22:32042000-32046400	Strong transcription	Primary hematopoietic stem cells	blood
47	chr22:32042000-32046800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr22:32042000-32046800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr22:32042000-32046800	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr22:32042200-32044000	Enhancers	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links