Variant report

Variant	rs73979328
Chromosome Location	chr2:187469226-187469227
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187466949..187471073-chr2:187471987..187477288,6	MCF-7	breast:
2	chr2:187465660..187469278-chr2:187474543..187476426,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10176423	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10190423	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13385496	1.00[AFR][1000 genomes]
rs13390676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13416778	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13421909	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13424365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823857	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16828066	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16828115	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979194	1.00[AFR][1000 genomes]
rs73979318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979331	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288131	1.00[AFR][1000 genomes]
rs9288132	1.00[AFR][1000 genomes]
rs9973509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1014203	chr2:187413781-187477586	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv536083	chr2:187413781-187477586	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv2756507	chr2:187416494-187470494	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv2756956	chr2:187416599-187492742	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv818105	chr2:187423298-187481835	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv2753217	chr2:187424494-187470494	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187456000-187470600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:187456000-187488200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr2:187456200-187469600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:187456200-187508600	Weak transcription	Esophagus	oesophagus
5	chr2:187456200-187533000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:187456400-187469600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:187456400-187469800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:187456400-187488200	Weak transcription	Fetal Thymus	thymus
9	chr2:187456400-187504000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:187456600-187469400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:187456600-187469600	Weak transcription	Primary T cells from cord blood	blood
12	chr2:187456600-187514000	Weak transcription	Thymus	Thymus
13	chr2:187456600-187520000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:187456800-187493400	Weak transcription	Brain Germinal Matrix	brain
15	chr2:187456800-187534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:187457200-187469400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:187457200-187469600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:187457200-187506000	Weak transcription	Liver	Liver
19	chr2:187457200-187533800	Weak transcription	Spleen	Spleen
20	chr2:187457400-187469600	Weak transcription	Right Atrium	heart
21	chr2:187457400-187472200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:187458000-187511400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:187458000-187529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:187458600-187477000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:187459400-187469600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:187459400-187470800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:187459400-187505600	Weak transcription	NHLF	lung
28	chr2:187460200-187469600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:187460200-187469600	Weak transcription	Fetal Lung	lung
30	chr2:187460200-187469600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:187460200-187469600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:187460200-187477200	Weak transcription	GM12878-XiMat	blood
33	chr2:187460200-187506200	Weak transcription	Small Intestine	intestine
34	chr2:187460400-187469400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:187460400-187469600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:187460600-187469600	Weak transcription	Right Ventricle	heart
37	chr2:187460600-187469600	Weak transcription	K562	blood
38	chr2:187460800-187475600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:187460800-187486800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:187461200-187469400	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:187462000-187471800	Weak transcription	HMEC	breast
42	chr2:187462000-187477600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:187462600-187469600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:187462600-187469600	Weak transcription	Brain Angular Gyrus	brain
45	chr2:187462600-187469600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:187462600-187471000	Weak transcription	Aorta	Aorta
47	chr2:187462600-187475800	Weak transcription	Lung	lung
48	chr2:187462600-187500600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:187462800-187515400	Weak transcription	Gastric	stomach
50	chr2:187463800-187469600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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