Variant report

Variant	rs11124307
Chromosome Location	chr2:33336309-33336310
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33335855..33338715-chr2:33339721..33342037,2	K562	blood:
2	chr2:33333082..33335535-chr2:33335888..33338274,2	K562	blood:
3	chr2:33332965..33336318-chr2:33345461..33348526,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10170267	0.96[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10182809	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs118207	1.00[ASW][hapmap];0.82[CEU][hapmap];0.88[LWK][hapmap];0.88[MEX][hapmap];0.85[MKK][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes]
rs118208	0.80[YRI][hapmap]
rs17038522	0.96[CEU][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs218186	0.81[ASW][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs218226	0.93[ASW][hapmap];0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.84[MEX][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6719374	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7575244	0.85[ASN][1000 genomes]
rs7601809	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7608890	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012472	chr2:32657052-33338578	Enhancers Strong transcription Weak transcription Flanking Active TSS 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1001408	chr2:33248877-33341137	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv535625	chr2:33248877-33341137	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1012946	chr2:33294522-33370391	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers 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	3 gene(s)	inside rSNPs	diseases
10	nsv535626	chr2:33294522-33370391	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv873789	chr2:33297967-33390188	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33328800-33347800	Weak transcription	Psoas Muscle	Psoas
2	chr2:33330000-33337200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:33333000-33336800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:33333200-33336600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:33333200-33336600	Enhancers	Fetal Lung	lung
6	chr2:33333400-33346600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:33333600-33342200	Weak transcription	Small Intestine	intestine
8	chr2:33333800-33339600	Weak transcription	Spleen	Spleen
9	chr2:33333800-33355200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:33334200-33336800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:33334200-33336800	Enhancers	Ovary	ovary
12	chr2:33334200-33342000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:33334400-33336400	Weak transcription	Right Atrium	heart
14	chr2:33334400-33338200	Weak transcription	Placenta	Placenta
15	chr2:33334400-33338200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:33334400-33341800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:33334400-33342000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:33334400-33342000	Weak transcription	Left Ventricle	heart
19	chr2:33334600-33337000	Enhancers	Stomach Smooth Muscle	stomach
20	chr2:33334600-33342000	Weak transcription	Aorta	Aorta
21	chr2:33334800-33336800	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:33335200-33336600	Enhancers	NHDF-Ad	bronchial
23	chr2:33335400-33336600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:33335400-33336800	Enhancers	Osteobl	bone
25	chr2:33335400-33337000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:33335600-33336600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:33335600-33336600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:33335600-33336600	Enhancers	HSMMtube	muscle
29	chr2:33335600-33336600	Enhancers	NHLF	lung
30	chr2:33335600-33336800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:33335600-33336800	Strong transcription	Liver	Liver
32	chr2:33335600-33336800	Enhancers	A549	lung
33	chr2:33335600-33336800	Strong transcription	K562	blood
34	chr2:33335600-33336800	Enhancers	NH-A	brain
35	chr2:33335800-33336400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:33336000-33336600	Strong transcription	HUVEC	blood vessel
37	chr2:33336000-33336800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:33336000-33336800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:33336000-33336800	Genic enhancers	Fetal Heart	heart
40	chr2:33336200-33336400	Enhancers	Fetal Stomach	stomach
41	chr2:33336200-33336400	Enhancers	Rectal Smooth Muscle	rectum
42	chr2:33336200-33336600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:33336200-33336600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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