Variant report

Variant	rs7340250
Chromosome Location	chr2:54801334-54801335
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54782556..54791633-chr2:54796824..54803982,19	MCF-7	breast:
2	chr2:54800828..54802394-chr2:54814892..54816682,2	K562	blood:
3	chr2:54800900..54802569-chr2:54811910..54813598,2	K562	blood:
4	chr2:54799809..54803669-chr2:54884381..54886305,3	MCF-7	breast:
5	chr2:54801312..54801940-chr2:54811431..54812282,2	MCF-7	breast:
6	chr2:54743659..54744325-chr2:54801308..54802130,2	MCF-7	breast:
7	chr2:54783962..54788714-chr2:54796833..54801765,9	K562	blood:
8	chr2:54796760..54799671-chr2:54800450..54802770,2	K562	blood:
9	chr2:54799877..54801952-chr2:54808384..54810954,2	K562	blood:
10	chr2:54795805..54798083-chr2:54801150..54802782,2	MCF-7	breast:
11	chr2:54781728..54792106-chr2:54796721..54808716,28	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10166797	0.89[AFR][1000 genomes]
rs10169013	1.00[ASN][1000 genomes]
rs10171393	1.00[ASN][1000 genomes]
rs10172671	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182310	1.00[ASN][1000 genomes]
rs10188548	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10189084	1.00[ASN][1000 genomes]
rs10191357	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194488	1.00[ASN][1000 genomes]
rs10195423	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10206622	1.00[ASN][1000 genomes]
rs13391762	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401431	0.87[AFR][1000 genomes]
rs13403817	1.00[ASN][1000 genomes]
rs13414727	1.00[ASN][1000 genomes]
rs13415413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415949	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13423872	1.00[ASN][1000 genomes]
rs13425620	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426037	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13427468	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428524	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431302	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17045949	1.00[ASN][1000 genomes]
rs2229505	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28496426	1.00[ASN][1000 genomes]
rs28609649	1.00[ASN][1000 genomes]
rs28660202	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28679552	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28710338	0.81[AFR][1000 genomes]
rs4387841	1.00[ASN][1000 genomes]
rs6545417	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545426	1.00[ASN][1000 genomes]
rs6735962	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746379	1.00[ASN][1000 genomes]
rs6748715	0.88[AFR][1000 genomes]
rs73934326	1.00[ASN][1000 genomes]
rs7574433	1.00[ASN][1000 genomes]
rs7583633	0.82[AFR][1000 genomes]
rs9808516	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54789800-54801400	Enhancers	Liver	Liver
2	chr2:54794400-54804200	Weak transcription	Ovary	ovary
3	chr2:54795200-54802200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:54795400-54801400	Enhancers	Fetal Thymus	thymus
5	chr2:54795600-54802400	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr2:54795800-54801800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr2:54795800-54801800	Enhancers	Fetal Kidney	kidney
8	chr2:54795800-54802400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:54795800-54803000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr2:54795800-54803200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:54795800-54803400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:54795800-54807000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:54795800-54807600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr2:54796000-54801600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:54796000-54801600	Enhancers	Brain Substantia Nigra	brain
16	chr2:54796000-54801800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:54796000-54802000	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:54796000-54802000	Enhancers	Fetal Lung	lung
19	chr2:54796000-54802200	Enhancers	HSMMtube	muscle
20	chr2:54796000-54802400	Enhancers	Brain Hippocampus Middle	brain
21	chr2:54796000-54802600	Enhancers	HMEC	breast
22	chr2:54796000-54802800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr2:54796000-54804400	Enhancers	Adipose Nuclei	Adipose
24	chr2:54796000-54807600	Enhancers	Brain Angular Gyrus	brain
25	chr2:54796200-54801400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:54796200-54801400	Enhancers	Placenta	Placenta
27	chr2:54796200-54801600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr2:54796200-54801800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr2:54796200-54806200	Enhancers	Right Atrium	heart
30	chr2:54796200-54806400	Enhancers	Brain Anterior Caudate	brain
31	chr2:54796200-54806800	Enhancers	Pancreas	Pancrea
32	chr2:54796400-54802200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:54796400-54803600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr2:54796400-54808800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:54796600-54802200	Flanking Active TSS	GM12878-XiMat	blood
36	chr2:54796800-54802200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr2:54796800-54802800	Enhancers	K562	blood
38	chr2:54796800-54803200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:54796800-54806800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:54796800-54807400	Enhancers	Psoas Muscle	Psoas
41	chr2:54796800-54810200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr2:54796800-54810600	Enhancers	Small Intestine	intestine
43	chr2:54797200-54805000	Enhancers	Spleen	Spleen
44	chr2:54797400-54801400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:54797400-54808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:54797600-54801600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:54797800-54802600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:54797800-54807000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr2:54798400-54801400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:54798600-54802400	Enhancers	Primary B cells from peripheral blood	blood

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