Variant report

Variant	rs2122714
Chromosome Location	chr2:46720160-46720161
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	chr2:46707494..46710484-chr2:46718946..46721502,2	K562	blood:
2	chr2:46715260..46716783-chr2:46718663..46721578,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12473626	0.81[EUR][1000 genomes]
rs12986653	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13001507	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13005507	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13007688	0.92[EUR][1000 genomes]
rs13008941	0.84[ASN][1000 genomes]
rs13010097	0.84[ASN][1000 genomes]
rs13024277	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13024546	0.84[EUR][1000 genomes]
rs13025211	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13030579	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17817004	0.83[EUR][1000 genomes]
rs2084679	0.84[ASN][1000 genomes]
rs2276555	0.80[EUR][1000 genomes]
rs2346414	0.84[ASN][1000 genomes]
rs2346415	0.84[ASN][1000 genomes]
rs35272216	0.84[ASN][1000 genomes]
rs4953387	0.91[EUR][1000 genomes]
rs4953388	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4953389	0.81[EUR][1000 genomes]
rs4953390	0.92[EUR][1000 genomes]
rs4953396	0.84[ASN][1000 genomes]
rs62134696	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62134698	0.84[ASN][1000 genomes]
rs6544898	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv437435	chr2:46636967-46763587	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv9702	chr2:46668106-46745740	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv817828	chr2:46670146-46739157	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv519216	chr2:46683683-46723219	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv457341	chr2:46712759-46724016	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv581748	chr2:46712759-46724016	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2122714	CRIPT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46714800-46720800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:46714800-46721600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:46715400-46720400	Weak transcription	HUVEC	blood vessel
4	chr2:46715800-46720400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:46716600-46720400	Enhancers	GM12878-XiMat	blood
6	chr2:46717800-46720400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:46718000-46720400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:46718000-46722600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:46718200-46720400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:46718200-46720400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:46718200-46720400	Weak transcription	Fetal Brain Female	brain
12	chr2:46718200-46720400	Weak transcription	Placenta	Placenta
13	chr2:46718200-46720400	Weak transcription	HSMM	muscle
14	chr2:46718200-46720400	Weak transcription	NH-A	brain
15	chr2:46718200-46720600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:46718200-46720800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:46718200-46721000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:46718200-46722600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:46718200-46726600	Weak transcription	Aorta	Aorta
20	chr2:46718400-46720400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:46718400-46720400	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:46718400-46720400	Weak transcription	HSMMtube	muscle
23	chr2:46718400-46720400	Weak transcription	NHDF-Ad	bronchial
24	chr2:46718400-46720600	Weak transcription	Ovary	ovary
25	chr2:46718400-46721000	Enhancers	Brain Hippocampus Middle	brain
26	chr2:46718400-46721000	Weak transcription	Right Atrium	heart
27	chr2:46718400-46726600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:46718600-46720600	Weak transcription	Brain Germinal Matrix	brain
29	chr2:46718600-46720600	Weak transcription	Fetal Brain Male	brain
30	chr2:46718600-46722000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:46718600-46722600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:46718600-46725600	Weak transcription	Brain Substantia Nigra	brain
33	chr2:46718600-46726600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr2:46718600-46726600	Weak transcription	Right Ventricle	heart
35	chr2:46718800-46720400	Weak transcription	Brain Anterior Caudate	brain
36	chr2:46718800-46720400	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:46718800-46720400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:46718800-46720800	Weak transcription	Fetal Stomach	stomach
39	chr2:46718800-46720800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:46718800-46721000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:46718800-46722400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:46718800-46726400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:46718800-46726600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:46718800-46727000	Weak transcription	Spleen	Spleen
45	chr2:46719200-46720400	Weak transcription	Left Ventricle	heart
46	chr2:46719400-46721400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:46719800-46721200	Enhancers	A549	lung
48	chr2:46719800-46721400	Enhancers	Fetal Heart	heart
49	chr2:46720000-46721400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:46720000-46721400	Enhancers	Hela-S3	cervix

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