Variant report

Variant	rs2240387
Chromosome Location	chr11:67762875-67762876
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	chr11:67762605..67767485-chr11:67767779..67773135,10	K562	blood:
2	chr11:67762444..67764941-chr11:67774417..67777074,2	K562	blood:

Variant related genes	Relation type
ENSG00000110057	Chromatin interaction
ENSG00000006534	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11228109	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11228110	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11228113	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12290997	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2375186	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2375187	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3808970	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs57333975	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72940176	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7931196	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7932	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7952122	0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047236	chr11:67345320-67764068	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
3	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
4	nsv468606	chr11:67352689-67816936	Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv555269	chr11:67352689-67816936	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS 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	136 gene(s)	inside rSNPs	diseases
6	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
7	esv2757450	chr11:67472905-67891289	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
8	esv2759835	chr11:67472905-67891289	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
9	nsv428260	chr11:67524937-67797669	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
10	esv2758275	chr11:67524937-67859490	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
11	nsv469856	chr11:67639037-67859490	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
12	nsv482760	chr11:67639037-67859490	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
13	nsv1038960	chr11:67727827-67785555	Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
14	nsv1047567	chr11:67747160-67819790	Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
15	nsv8836	chr11:67752879-67819799	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
16	nsv983037	chr11:67756642-67778389	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription 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	43 gene(s)	inside rSNPs	diseases
17	nsv897836	chr11:67757350-67816936	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
18	nsv897837	chr11:67757350-67821036	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
19	nsv897838	chr11:67757350-67833543	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
20	nsv482160	chr11:67758575-67771593	Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2240387	RP5-903G2.2	cis	Thyroid	GTEx

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67758000-67764000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:67758600-67763400	Weak transcription	Esophagus	oesophagus
3	chr11:67758600-67763600	Weak transcription	Gastric	stomach
4	chr11:67758800-67763600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:67758800-67763800	Weak transcription	Adipose Nuclei	Adipose
6	chr11:67758800-67764000	Weak transcription	Stomach Mucosa	stomach
7	chr11:67758800-67764200	Weak transcription	Lung	lung
8	chr11:67759000-67763600	Weak transcription	Placenta	Placenta
9	chr11:67759000-67764200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:67759000-67764200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:67759000-67766000	Weak transcription	Liver	Liver
12	chr11:67759200-67763600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:67759200-67763600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:67759200-67764000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:67759200-67770400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:67759200-67770400	Weak transcription	Right Atrium	heart
17	chr11:67759400-67764000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:67759600-67763400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:67759600-67763800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:67759600-67764000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:67760200-67763600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr11:67760200-67763800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr11:67760200-67767600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:67760600-67763400	Weak transcription	Fetal Intestine Small	intestine
25	chr11:67761000-67764200	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:67761400-67764200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:67761400-67769800	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr11:67761600-67763200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:67761600-67763800	Enhancers	Primary B cells from cord blood	blood
30	chr11:67761600-67764000	Weak transcription	Brain Substantia Nigra	brain
31	chr11:67761600-67765600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:67761800-67763200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:67761800-67763600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr11:67761800-67764400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:67761800-67764800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:67761800-67765200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:67761800-67765200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:67761800-67765400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:67761800-67765600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:67761800-67765600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:67762000-67770400	Weak transcription	NHLF	lung
42	chr11:67762200-67763400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:67762200-67764000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr11:67762200-67764200	Strong transcription	Spleen	Spleen
45	chr11:67762200-67764600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:67762200-67764800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr11:67762400-67763600	Strong transcription	A549	lung
48	chr11:67762400-67764000	Weak transcription	GM12878-XiMat	blood
49	chr11:67762400-67764200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:67762400-67764200	Weak transcription	Colonic Mucosa	Colon

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