Variant report

Variant	rs73396886
Chromosome Location	chr22:30321732-30321733
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30315834..30317448-chr22:30319842..30321768,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs56727193	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56822704	1.00[AMR][1000 genomes]
rs56836109	0.92[AFR][1000 genomes]
rs56978667	1.00[AMR][1000 genomes]
rs57561197	0.82[AFR][1000 genomes]
rs57631440	0.92[AFR][1000 genomes]
rs58198399	0.82[AFR][1000 genomes]
rs58564057	1.00[AMR][1000 genomes]
rs58906954	0.85[AFR][1000 genomes]
rs58967191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60017483	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60022678	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60093195	1.00[AMR][1000 genomes]
rs60098050	1.00[AMR][1000 genomes]
rs7290116	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7291683	1.00[AMR][1000 genomes]
rs73390967	0.82[AFR][1000 genomes]
rs73392870	0.81[AFR][1000 genomes]
rs73392892	0.85[AFR][1000 genomes]
rs73394890	0.86[AFR][1000 genomes]
rs73396803	0.94[AFR][1000 genomes]
rs73396831	1.00[AMR][1000 genomes]
rs73396837	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396841	1.00[AMR][1000 genomes]
rs73396843	1.00[AMR][1000 genomes]
rs73396848	1.00[AMR][1000 genomes]
rs73396856	1.00[AMR][1000 genomes]
rs73396863	1.00[AMR][1000 genomes]
rs73396872	1.00[AMR][1000 genomes]
rs73396883	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396885	1.00[AMR][1000 genomes]
rs73396894	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396896	1.00[AMR][1000 genomes]
rs73396902	1.00[AMR][1000 genomes]
rs73398629	1.00[AMR][1000 genomes]
rs73398630	1.00[AMR][1000 genomes]
rs73398636	0.83[AFR][1000 genomes]
rs73398645	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398647	1.00[AMR][1000 genomes]
rs73398650	1.00[AMR][1000 genomes]
rs73398653	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398654	1.00[AMR][1000 genomes]
rs73398659	1.00[AMR][1000 genomes]
rs73398662	1.00[AMR][1000 genomes]
rs73398664	1.00[AMR][1000 genomes]
rs73398671	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398683	1.00[AMR][1000 genomes]
rs73398696	1.00[AMR][1000 genomes]
rs73398701	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400604	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400618	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400625	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400627	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400629	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400637	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400673	0.81[AFR][1000 genomes]
rs879447	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1064489	chr22:30316627-30361881	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30305600-30327400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr22:30309200-30326400	Weak transcription	Pancreas	Pancrea
3	chr22:30310000-30327600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr22:30310800-30321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr22:30311000-30333200	Weak transcription	Primary B cells from cord blood	blood
6	chr22:30311600-30324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:30311800-30340400	Weak transcription	HSMM	muscle
9	chr22:30312400-30322800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr22:30312600-30326400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr22:30312600-30339800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr22:30313000-30323600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr22:30313000-30343800	Weak transcription	Fetal Stomach	stomach
14	chr22:30313600-30339800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
16	chr22:30314200-30334200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr22:30314400-30328200	Weak transcription	Osteobl	bone
18	chr22:30314600-30329200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr22:30318000-30334000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:30319800-30329800	Weak transcription	Right Atrium	heart
21	chr22:30319800-30333800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr22:30320400-30323200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr22:30320400-30328200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr22:30320400-30331200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr22:30320400-30333800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr22:30320600-30339800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr22:30321000-30321800	Enhancers	Ovary	ovary
28	chr22:30321000-30321800	Enhancers	Psoas Muscle	Psoas
29	chr22:30321000-30321800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr22:30321000-30321800	Enhancers	Right Ventricle	heart
31	chr22:30321000-30321800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr22:30321200-30321800	Enhancers	Esophagus	oesophagus
33	chr22:30321200-30322800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr22:30321200-30329000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:30321400-30323400	Weak transcription	Adipose Nuclei	Adipose
36	chr22:30321400-30326400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr22:30321400-30328000	Weak transcription	Colon Smooth Muscle	Colon
38	chr22:30321400-30330200	Weak transcription	Left Ventricle	heart
39	chr22:30321400-30331200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr22:30321400-30339800	Weak transcription	Lung	lung
41	chr22:30321600-30322000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr22:30321600-30322000	ZNF genes & repeats	Fetal Intestine Small	intestine

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