Variant report

Variant	rs2267918
Chromosome Location	chr11:64495284-64495285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64488953..64492358-chr11:64494801..64498718,4	K562	blood:
2	chr11:64451091..64452707-chr11:64493055..64495718,2	MCF-7	breast:
3	chr11:64492501..64495371-chr11:64543790..64546396,3	K562	blood:

Variant related genes	Relation type
ENSG00000168066	Chromatin interaction
ENSG00000110076	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10400348	0.85[EUR][1000 genomes]
rs10792444	0.87[EUR][1000 genomes]
rs10897524	0.92[GIH][hapmap];0.85[JPT][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10897525	0.83[MEX][hapmap]
rs11231853	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs11231859	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11231869	0.83[MEX][hapmap]
rs1143937	1.00[CEU][hapmap];0.83[MEX][hapmap]
rs1207181	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12223914	0.86[EUR][1000 genomes]
rs12417551	0.88[EUR][1000 genomes]
rs12575704	0.87[EUR][1000 genomes]
rs1633462	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17146121	0.89[CEU][hapmap];0.80[CHD][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs2003293	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073797	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2073798	0.83[ASW][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2230414	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284301	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2375335	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2959652	1.00[CEU][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3741398	1.00[CEU][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs3809076	0.89[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs474707	0.81[CEU][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs476037	0.89[CEU][hapmap];0.82[CHD][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap];0.83[EUR][1000 genomes]
rs477549	1.00[CEU][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.97[EUR][1000 genomes]
rs483962	1.00[CEU][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes]
rs487105	1.00[CEU][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.93[EUR][1000 genomes]
rs489192	1.00[CEU][hapmap];0.80[JPT][hapmap];0.88[MEX][hapmap];0.84[EUR][1000 genomes]
rs490980	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs494128	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs496914	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs523200	1.00[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes]
rs523752	0.83[EUR][1000 genomes]
rs532747	0.92[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs547066	0.84[GIH][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs555974	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs569602	0.92[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs580374	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58483071	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs589691	1.00[CEU][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes]
rs593394	0.93[EUR][1000 genomes]
rs606458	1.00[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs607389	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs620006	0.95[EUR][1000 genomes]
rs624975	0.90[CEU][hapmap];0.83[MEX][hapmap]
rs625172	0.81[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs630966	0.90[EUR][1000 genomes]
rs633923	0.95[EUR][1000 genomes]
rs637332	1.00[CEU][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes]
rs667237	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs669976	0.90[CEU][hapmap];0.83[MEX][hapmap]
rs674297	0.91[EUR][1000 genomes]
rs677298	1.00[CEU][hapmap]
rs680273	1.00[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes]
rs683841	0.84[EUR][1000 genomes]
rs684720	0.84[EUR][1000 genomes]
rs686171	0.86[EUR][1000 genomes]
rs693235	0.94[ASW][hapmap];0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72643567	0.92[EUR][1000 genomes]
rs72643568	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7938455	0.88[EUR][1000 genomes]
rs7939965	0.89[CEU][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
6	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
8	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
12	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS 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 lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
13	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
14	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
15	nsv359	chr11:64477008-64502873	Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
16	nsv555202	chr11:64477050-64573589	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
17	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
18	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
19	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
20	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
21	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs2267918	LRRN4CL	cis	cerebellum	SCAN
rs2267918	CABP2	cis	parietal	SCAN
rs2267918	B3GNT1	cis	cerebellum	SCAN
rs2267918	TMEM138	cis	parietal	SCAN
rs2267918	SF1	cis	lymphoblastoid	seeQTL
rs2267918	MALAT1	cis	parietal	SCAN
rs2267918	EHD1	cis	cerebellum	SCAN
rs2267918	ANKRD13D	cis	parietal	SCAN
rs2267918	TMEM138	cis	cerebellum	SCAN
rs2267918	PYGM	cis	parietal	SCAN
rs2267918	SF1	cis	multi-tissue	Pritchard
rs2267918	SF1	Cis_1M	lymphoblastoid	RTeQTL
rs2267918	POLA2	cis	cerebellum	SCAN
rs2267918	PYGM	cis	cerebellum	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64490800-64498000	Enhancers	Liver	Liver
2	chr11:64491000-64502200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:64491200-64496000	Weak transcription	Aorta	Aorta
4	chr11:64491200-64496200	Weak transcription	Lung	lung
5	chr11:64491200-64497600	Weak transcription	Right Ventricle	heart
6	chr11:64491200-64499200	Weak transcription	Left Ventricle	heart
7	chr11:64491200-64502200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:64491200-64502400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:64491200-64502800	Weak transcription	Gastric	stomach
10	chr11:64491400-64502200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:64491400-64503000	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:64491400-64509400	Weak transcription	Right Atrium	heart
13	chr11:64491400-64509600	Weak transcription	Brain Angular Gyrus	brain
14	chr11:64491400-64509600	Weak transcription	Pancreas	Pancrea
15	chr11:64491600-64499400	Weak transcription	Brain Anterior Caudate	brain
16	chr11:64491600-64502600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:64491600-64503200	Weak transcription	Esophagus	oesophagus
18	chr11:64491600-64509200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:64491600-64509400	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:64491800-64495400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:64491800-64495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:64491800-64509400	Weak transcription	Brain Substantia Nigra	brain
23	chr11:64491800-64509800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:64492000-64496400	Weak transcription	Dnd41	blood
25	chr11:64492000-64509600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:64492200-64496000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr11:64492400-64497800	Weak transcription	Adipose Nuclei	Adipose
28	chr11:64493200-64497400	Weak transcription	Placenta	Placenta
29	chr11:64493200-64497600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:64493200-64497600	Weak transcription	K562	blood
31	chr11:64493400-64502200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:64493400-64508800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:64493600-64495800	Weak transcription	Fetal Thymus	thymus
34	chr11:64493600-64499800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr11:64493600-64502600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:64493600-64503800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:64493600-64507800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:64493600-64508000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:64493800-64495600	Weak transcription	Thymus	Thymus
40	chr11:64493800-64497600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr11:64493800-64499000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:64493800-64500000	Strong transcription	Primary B cells from cord blood	blood
43	chr11:64493800-64500800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr11:64493800-64503600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr11:64494000-64508400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:64494000-64508600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr11:64494000-64508600	Strong transcription	Primary T cells from cord blood	blood
48	chr11:64494000-64508600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:64494200-64497200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:64494200-64497400	Strong transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links