Variant report

Variant	rs2509203
Chromosome Location	chr11:107415388-107415389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107411230..107412987-chr11:107414940..107417572,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs2463658	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs471668	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484178	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499413	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499499	0.82[ASN][1000 genomes]
rs526014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs534991	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536915	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs559875	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs578607	0.85[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614371	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627103	0.80[AMR][1000 genomes]
rs630805	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs632033	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632902	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635577	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs638234	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs645056	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs645225	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645663	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658245	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664897	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669588	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898365	chr11:106944975-107430300	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv898366	chr11:106944975-107433835	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv898370	chr11:107027991-107430300	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv898372	chr11:107049968-107433835	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv898373	chr11:107124903-107433835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv898376	chr11:107299631-107443420	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2509203	CWF19L2	cis	parietal	SCAN
rs2509203	CWF19L2	cis	cerebellum	SCAN
rs2509203	ELMOD1	cis	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107370000-107433800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:107371200-107421200	Weak transcription	Right Ventricle	heart
3	chr11:107372000-107435600	Weak transcription	Colonic Mucosa	Colon
4	chr11:107372800-107434600	Weak transcription	Placenta	Placenta
5	chr11:107373000-107421000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:107373000-107421400	Weak transcription	Brain Germinal Matrix	brain
7	chr11:107373200-107421000	Weak transcription	Spleen	Spleen
8	chr11:107373200-107423200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:107376000-107415600	Weak transcription	Brain Angular Gyrus	brain
10	chr11:107376000-107421000	Weak transcription	Thymus	Thymus
11	chr11:107376600-107415400	Weak transcription	Ovary	ovary
12	chr11:107376600-107434600	Weak transcription	Lung	lung
13	chr11:107376800-107421000	Weak transcription	Aorta	Aorta
14	chr11:107376800-107434600	Weak transcription	Psoas Muscle	Psoas
15	chr11:107377000-107432600	Weak transcription	K562	blood
16	chr11:107378600-107433800	Weak transcription	Fetal Kidney	kidney
17	chr11:107381800-107415600	Weak transcription	NHDF-Ad	bronchial
18	chr11:107382000-107434200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:107389800-107434600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:107389800-107435600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:107390000-107421000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:107390000-107423000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:107390600-107418800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:107392400-107417400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:107394000-107415400	Weak transcription	Brain Substantia Nigra	brain
26	chr11:107394400-107421000	Weak transcription	Fetal Stomach	stomach
27	chr11:107395200-107431800	Weak transcription	A549	lung
28	chr11:107396600-107418800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:107399800-107435600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:107400800-107418600	Weak transcription	Fetal Brain Male	brain
31	chr11:107401200-107434200	Weak transcription	Fetal Brain Female	brain
32	chr11:107402600-107418000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:107402600-107430000	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:107403000-107434600	Weak transcription	Fetal Thymus	thymus
35	chr11:107403200-107419200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:107403200-107421200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:107403800-107415600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:107404800-107415600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:107405400-107415600	Weak transcription	NHLF	lung
40	chr11:107406400-107427800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:107406800-107423200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:107406800-107433200	Weak transcription	HSMMtube	muscle
43	chr11:107407200-107434400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr11:107407400-107415600	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:107407400-107420200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:107407600-107420200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:107407600-107421200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:107407800-107415600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:107407800-107415600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:107407800-107417000	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links