Variant report

Variant	rs17148723
Chromosome Location	chr11:85753854-85753855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85752432..85754152-chr11:85778326..85779927,2	K562	blood:
2	chr11:85753274..85754881-chr11:85905097..85907303,2	MCF-7	breast:
3	chr11:85752345..85755214-chr11:85762057..85763811,2	K562	blood:
4	chr11:85746383..85749282-chr11:85752081..85754619,3	K562	blood:
5	chr11:85752580..85754495-chr11:85817812..85820593,2	K562	blood:
6	chr11:85753212..85755619-chr11:85956266..85958144,2	K562	blood:
7	chr11:85752985..85755269-chr11:85927440..85930207,2	MCF-7	breast:
8	chr11:85752848..85754712-chr11:85955507..85958144,2	K562	blood:
9	chr11:85742480..85744643-chr11:85751587..85754338,2	K562	blood:
10	chr11:85752945..85755603-chr11:85903337..85906078,2	K562	blood:
11	chr11:85750753..85754921-chr11:85777860..85781815,4	MCF-7	breast:
12	chr11:85752580..85755769-chr11:85817812..85820593,3	K562	blood:
13	chr11:85579605..85581387-chr11:85752967..85754863,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000073921	Chromatin interaction
ENSG00000254699	Chromatin interaction
ENSG00000254502	Chromatin interaction
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11234459	1.00[CEU][hapmap]
rs17148629	0.84[EUR][1000 genomes]
rs17148643	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17148690	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17148741	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17744717	1.00[CEU][hapmap]
rs61907296	0.84[EUR][1000 genomes]
rs7103626	1.00[CEU][hapmap]
rs7106389	0.84[EUR][1000 genomes]
rs7128481	1.00[CEU][hapmap]
rs7131265	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7931285	1.00[CEU][hapmap];0.84[EUR][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	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1053808	chr11:85588919-85757693	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv468769	chr11:85683554-85757589	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv555641	chr11:85683554-85757589	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv898054	chr11:85683554-85772636	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv468771	chr11:85688209-85757589	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv468773	chr11:85688209-85757589	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv555643	chr11:85688209-85757589	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv468774	chr11:85688209-85775059	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv555644	chr11:85688209-85775059	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85731600-85754200	Weak transcription	Brain Germinal Matrix	brain
2	chr11:85733200-85754000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:85737200-85755200	Weak transcription	Lung	lung
4	chr11:85737200-85755600	Weak transcription	Esophagus	oesophagus
5	chr11:85740400-85755600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:85740800-85754000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:85742200-85754000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:85742200-85755000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:85742200-85755400	Weak transcription	Aorta	Aorta
10	chr11:85742600-85754000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:85742600-85755600	Weak transcription	Placenta	Placenta
12	chr11:85742800-85758400	Weak transcription	Fetal Intestine Large	intestine
13	chr11:85746600-85755600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:85746600-85762800	Weak transcription	Stomach Mucosa	stomach
15	chr11:85746800-85755600	Weak transcription	Pancreas	Pancrea
16	chr11:85747000-85755600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:85749600-85755600	Weak transcription	Fetal Thymus	thymus
18	chr11:85750000-85754000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:85750200-85758200	Weak transcription	Fetal Intestine Small	intestine
20	chr11:85750600-85758800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:85751400-85754600	Enhancers	Brain Substantia Nigra	brain
22	chr11:85751400-85761800	Enhancers	Liver	Liver
23	chr11:85751600-85754200	Enhancers	Brain Angular Gyrus	brain
24	chr11:85751600-85754400	Enhancers	NH-A	brain
25	chr11:85751600-85755400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:85751600-85756400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:85751600-85757600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr11:85751600-85758200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr11:85751800-85754400	Enhancers	Rectal Smooth Muscle	rectum
30	chr11:85751800-85755000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:85751800-85755800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:85751800-85755800	Enhancers	Osteobl	bone
33	chr11:85751800-85756000	Enhancers	HMEC	breast
34	chr11:85751800-85756000	Enhancers	NHLF	lung
35	chr11:85751800-85760600	Enhancers	Primary T cells from cord blood	blood
36	chr11:85751800-85761200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr11:85752000-85754000	Enhancers	Brain Cingulate Gyrus	brain
38	chr11:85752000-85756000	Enhancers	NHDF-Ad	bronchial
39	chr11:85752200-85754400	Enhancers	HUVEC	blood vessel
40	chr11:85752200-85756800	Enhancers	Primary B cells from cord blood	blood
41	chr11:85752400-85754000	Enhancers	HSMMtube	muscle
42	chr11:85752400-85754200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr11:85752400-85754200	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr11:85752400-85758000	Enhancers	Hela-S3	cervix
45	chr11:85752400-85759000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr11:85752400-85760600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr11:85752400-85768400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr11:85752600-85754400	Enhancers	NHEK	skin
49	chr11:85752600-85754600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:85752600-85756000	Enhancers	Skeletal Muscle Male	skeletal muscle

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