Variant report

Variant	rs73396842
Chromosome Location	chr22:30306550-30306551
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	chr22:30305656..30307780-chr22:30310595..30312503,3	MCF-7	breast:
2	chr22:30277897..30280164-chr22:30306298..30309228,2	K562	blood:

Variant related genes	Relation type
ENSG00000100330	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs16988115	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16988122	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16988151	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28647168	1.00[AMR][1000 genomes]
rs56733052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57258477	1.00[AMR][1000 genomes]
rs57724305	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58255360	1.00[AMR][1000 genomes]
rs58952888	0.83[AMR][1000 genomes]
rs59580785	1.00[AMR][1000 genomes]
rs5997540	1.00[AMR][1000 genomes]
rs5997565	1.00[AMR][1000 genomes]
rs6006297	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006299	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006301	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006309	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006317	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006318	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006331	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60245742	1.00[AMR][1000 genomes]
rs61043203	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61191536	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61540772	1.00[AMR][1000 genomes]
rs73394851	1.00[AMR][1000 genomes]
rs73394860	1.00[AMR][1000 genomes]
rs73394861	1.00[AMR][1000 genomes]
rs73394863	1.00[AMR][1000 genomes]
rs73394876	1.00[AMR][1000 genomes]
rs73396845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398634	0.84[AFR][1000 genomes]
rs73398637	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398640	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398663	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400621	0.83[AMR][1000 genomes]
rs73400633	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400648	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400675	1.00[AMR][1000 genomes]
rs73400689	1.00[AMR][1000 genomes]
rs73402619	1.00[AMR][1000 genomes]
rs9620939	0.83[AMR][1000 genomes]
rs9625903	0.83[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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr22:30283800-30307000	Weak transcription	Esophagus	oesophagus
4	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:30298000-30314600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr22:30299800-30308400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr22:30299800-30308400	Weak transcription	Lung	lung
9	chr22:30300400-30307000	Weak transcription	Spleen	Spleen
10	chr22:30301400-30308000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr22:30302200-30308400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr22:30302200-30308400	Weak transcription	Gastric	stomach
13	chr22:30303400-30308400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr22:30304000-30308400	Weak transcription	Small Intestine	intestine
15	chr22:30304000-30309000	Weak transcription	Placenta	Placenta
16	chr22:30304000-30309800	Weak transcription	Brain Germinal Matrix	brain
17	chr22:30304200-30307000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr22:30304200-30307000	Weak transcription	Left Ventricle	heart
19	chr22:30304200-30307000	Weak transcription	Pancreas	Pancrea
20	chr22:30304200-30308400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:30304200-30312800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:30304400-30306800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr22:30304400-30306800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr22:30304400-30307000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr22:30304400-30307000	Weak transcription	Right Ventricle	heart
26	chr22:30304400-30307200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:30304400-30308000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr22:30304400-30308000	Weak transcription	NHDF-Ad	bronchial
29	chr22:30304400-30308200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr22:30304400-30308200	Weak transcription	NHLF	lung
31	chr22:30304400-30308400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr22:30304400-30308400	Weak transcription	Aorta	Aorta
33	chr22:30304400-30308400	Weak transcription	Liver	Liver
34	chr22:30304400-30308400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr22:30304400-30308400	Weak transcription	Fetal Stomach	stomach
36	chr22:30304400-30308600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr22:30304400-30309200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr22:30304400-30310800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr22:30304400-30312000	Weak transcription	Fetal Kidney	kidney
40	chr22:30304400-30312400	Weak transcription	Brain Hippocampus Middle	brain
41	chr22:30304400-30321000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr22:30304600-30306600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr22:30304600-30307200	Weak transcription	HepG2	liver
44	chr22:30304600-30307800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr22:30304600-30307800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:30304600-30307800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr22:30304600-30308000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr22:30304600-30308000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr22:30304600-30308000	Weak transcription	HSMMtube	muscle
50	chr22:30304600-30308200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links