Variant report

Variant	rs148067057
Chromosome Location	chr11:67189261-67189262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:67187726-67189337	SK-N-SH	brain:	n/a	n/a
2	RAD21	chr11:67188940-67189289	Hela-S3	cervix:	n/a	n/a
3	RAD21	chr11:67188063-67189293	H1-hESC	embryonic stem cell:	n/a	chr11:67188351-67188365
4	TCF7L2	chr11:67188249-67189264	HCT-116	colon:	n/a	chr11:67189059-67189073
5	HCFC1	chr11:67187834-67189352	Hela-S3	cervix:	n/a	n/a
6	MXI1	chr11:67187768-67189325	IMR90	lung:	n/a	n/a
7	RAD21	chr11:67188788-67189406	MCF-7	breast:	n/a	n/a
8	RCOR1	chr11:67187823-67189285	IMR90	lung:	n/a	n/a
9	POLR2A	chr11:67187955-67189350	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67117328..67119147-chr11:67188918..67191824,2	K562	blood:
2	chr11:67187290..67189722-chr11:67250373..67251986,2	K562	blood:
3	chr11:67186666..67191064-chr11:67273296..67275634,4	K562	blood:
4	chr11:67188329..67190078-chr11:67395497..67397471,2	K562	blood:
5	chr11:67140365..67142235-chr11:67187974..67189991,2	K562	blood:
6	chr11:67182567..67190511-chr11:67270739..67276166,13	MCF-7	breast:
7	chr11:67187544..67192614-chr11:67201349..67205044,6	K562	blood:
8	chr11:67186666..67189529-chr11:67272076..67275550,4	K562	blood:
9	chr11:67185549..67189385-chr11:67208691..67212904,6	K562	blood:
10	chr11:67187592..67190127-chr11:67230614..67234165,3	K562	blood:
11	chr11:67187671..67190437-chr11:67260669..67262502,2	MCF-7	breast:

No data

Variant related genes	Relation type
PPP1CA	TF binding region
ENSG00000172725	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000255949	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:28 , 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	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
3	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
4	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
5	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
6	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription 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	122 gene(s)	inside rSNPs	diseases
8	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
9	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
10	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
12	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription 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 miRNA target site	176 gene(s)	inside rSNPs	diseases
13	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
14	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
15	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
16	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
17	nsv897810	chr11:67166310-67196237	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
18	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
19	nsv897812	chr11:67174597-67198887	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
20	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
21	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
22	nsv555255	chr11:67177797-67191449	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	esv1847460	chr11:67182600-67219337	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
24	nsv524096	chr11:67186000-67224988	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
25	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
26	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
27	esv1811233	chr11:67186271-67193108	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
28	esv3403555	chr11:67187476-67189674	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67188000-67195200	Weak transcription	Fetal Lung	lung
2	chr11:67188200-67189400	Enhancers	Fetal Muscle Trunk	muscle
3	chr11:67188200-67193000	Enhancers	Fetal Thymus	thymus
4	chr11:67188600-67189400	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:67188600-67190200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:67188600-67192600	Weak transcription	Brain Angular Gyrus	brain
7	chr11:67188800-67189400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr11:67189000-67189400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:67189000-67189400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:67189000-67189400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr11:67189000-67189800	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:67189000-67190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:67189000-67190200	Weak transcription	Esophagus	oesophagus
14	chr11:67189000-67192200	Genic enhancers	Fetal Muscle Leg	muscle
15	chr11:67189000-67194800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:67189000-67195000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr11:67189000-67195000	Weak transcription	HUVEC	blood vessel
18	chr11:67189000-67195000	Weak transcription	NH-A	brain
19	chr11:67189000-67195200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:67189000-67195200	Weak transcription	Fetal Brain Male	brain
21	chr11:67189200-67189400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:67189200-67189400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:67189200-67189400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:67189200-67189400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr11:67189200-67189400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:67189200-67189400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr11:67189200-67189400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:67189200-67189400	Active TSS	Colonic Mucosa	Colon
29	chr11:67189200-67189400	Enhancers	Duodenum Mucosa	Duodenum
30	chr11:67189200-67189400	Enhancers	Fetal Intestine Small	intestine
31	chr11:67189200-67189400	Enhancers	Placenta	Placenta
32	chr11:67189200-67189400	Enhancers	HepG2	liver
33	chr11:67189200-67189400	Enhancers	NHEK	skin
34	chr11:67189200-67189600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr11:67189200-67189600	Enhancers	HMEC	breast
36	chr11:67189200-67190000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:67189200-67190200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:67189200-67190200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:67189200-67190200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:67189200-67190200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:67189200-67190200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:67189200-67190200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:67189200-67190200	Weak transcription	Fetal Intestine Large	intestine
44	chr11:67189200-67190200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:67189200-67190200	Weak transcription	Thymus	Thymus
46	chr11:67189200-67190400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:67189200-67190400	Weak transcription	Hela-S3	cervix
48	chr11:67189200-67190600	Weak transcription	Stomach Mucosa	stomach
49	chr11:67189200-67190800	Weak transcription	Fetal Stomach	stomach
50	chr11:67189200-67191000	Weak transcription	Brain Substantia Nigra	brain

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