Variant report

Variant	rs2004225
Chromosome Location	chr11:67058699-67058700
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67041841-67058702	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:67057637-67058734	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:67058405-67058776	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:67041711-67058704	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67053008..67062318-chr11:67075341..67086484,24	K562	blood:
2	chr11:67056211..67059053-chr11:67235087..67237043,2	MCF-7	breast:
3	chr11:67054455..67063331-chr11:67064649..67075279,24	K562	blood:

Variant related genes	Relation type
ANKRD13D	TF binding region
ENSG00000172830	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000172932	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11227764	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11227771	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11227780	0.86[EUR][1000 genomes]
rs11826923	0.86[EUR][1000 genomes]
rs3802745	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57238619	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58530946	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60229295	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61891566	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61891569	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61891571	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61891572	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61891574	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72932705	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers 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	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
9	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
11	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
12	nsv897802	chr11:67051245-67075024	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
14	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67057000-67059200	Enhancers	Fetal Brain Male	brain
2	chr11:67057200-67059000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
3	chr11:67057400-67060000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:67057400-67060000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:67057600-67058800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
6	chr11:67057600-67059200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
7	chr11:67057600-67059800	Genic enhancers	Placenta Amnion	Placenta Amnion
8	chr11:67057600-67060000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:67057600-67060800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
10	chr11:67057600-67061000	Genic enhancers	Primary B cells from peripheral blood	blood
11	chr11:67057600-67062600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:67057600-67063200	Weak transcription	Fetal Kidney	kidney
13	chr11:67057600-67067000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:67057600-67069200	Weak transcription	Psoas Muscle	Psoas
15	chr11:67057800-67058800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:67057800-67058800	Enhancers	Right Ventricle	heart
17	chr11:67057800-67059200	Weak transcription	Aorta	Aorta
18	chr11:67057800-67059200	Genic enhancers	Fetal Intestine Small	intestine
19	chr11:67057800-67059400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr11:67057800-67059400	Weak transcription	K562	blood
21	chr11:67057800-67059800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:67057800-67059800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:67057800-67059800	Genic enhancers	Placenta	Placenta
24	chr11:67057800-67060000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:67057800-67060000	Genic enhancers	Pancreas	Pancrea
26	chr11:67057800-67060600	Weak transcription	Small Intestine	intestine
27	chr11:67057800-67062400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
28	chr11:67057800-67063000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:67058000-67058800	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:67058000-67058800	Genic enhancers	Fetal Thymus	thymus
31	chr11:67058000-67059000	Strong transcription	Gastric	stomach
32	chr11:67058000-67059200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:67058000-67059400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr11:67058000-67059600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:67058000-67059600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:67058000-67059600	Genic enhancers	Brain Hippocampus Middle	brain
37	chr11:67058000-67060000	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr11:67058000-67060000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:67058000-67060200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:67058000-67060200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr11:67058000-67060400	Genic enhancers	Colon Smooth Muscle	Colon
42	chr11:67058000-67061000	Strong transcription	Fetal Intestine Large	intestine
43	chr11:67058000-67061400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:67058000-67061600	Genic enhancers	Primary monocytes fromperipheralblood	blood
45	chr11:67058000-67061800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
46	chr11:67058000-67062400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr11:67058000-67065800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:67058200-67059000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:67058200-67059000	Weak transcription	Ovary	ovary
50	chr11:67058200-67059200	Genic enhancers	Primary hematopoietic stem cells	blood

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