Variant report

Variant	rs115512438
Chromosome Location	chr11:66059209-66059210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:66054844-66061017	SK-N-SH	brain:	n/a	chr11:66060557-66060572
2	SIN3AK20	chr11:66059172-66059716	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:66058781-66059682	H1-neurons	neurons:	n/a	n/a
4	ZBTB7A	chr11:66059066-66059216	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:66054040-66060816	H1-neurons	neurons:	n/a	n/a
6	REST	chr11:66059029-66059857	H1-neurons	neurons:	n/a	chr11:66059419-66059432 chr11:66059287-66059300 chr11:66059358-66059371
7	POLR2A	chr11:66059181-66059557	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66059164-66059214	PANC-1	pancreas:	n/a
2	chr11:66059164-66059214	HCPEpiC	choroid plexus:	n/a
3	chr11:66059164-66059214	HIPEpiC	eye:	n/a
4	chr11:66059164-66059214	GM19239	blood:	n/a
5	chr11:66059164-66059214	GM12878	blood:	n/a
6	chr11:66059164-66059214	T-47D	breast:	n/a
7	chr11:66059164-66059214	HRPEpiC	eye:	n/a
8	chr11:66059164-66059214	MCF10A-Er-Src	breast:	n/a
9	chr11:66059164-66059214	GM12891	blood:	n/a
10	chr11:66059164-66059214	SK-N-MC	brain:	n/a
11	chr11:66059164-66059214	NT2-D1	testis:	n/a
12	chr11:66059164-66059214	SK-N-SH_RA	brain:	n/a
13	chr11:66059164-66059214	SAEC	small airway:	n/a
14	chr11:66059164-66059214	IMR90	lung:	fetal
15	chr11:66059164-66059214	HEEpiC	esophagus:	n/a
16	chr11:66059164-66059214	AG04449	skin:	fetal
17	chr11:66059164-66059214	K562	blood:	n/a
18	chr11:66059164-66059214	LNCaP	prostate:	n/a
19	chr11:66059164-66059214	GM12892	blood:	n/a
20	chr11:66059164-66059214	A549	lung:	n/a
21	chr11:66059164-66059214	HL-60	blood:	n/a
22	chr11:66059164-66059214	NH-A	brain:	n/a
23	chr11:66059164-66059214	MCF-7	breast:	n/a
24	chr11:66059164-66059214	HEK293	kidney:	embryo
25	chr11:66059164-66059214	HRCEpiC	kidney:	n/a
26	chr11:66059164-66059214	Hepatocyte	liver:	n/a
27	chr11:66059164-66059214	Jurkat	blood:	n/a
28	chr11:66059164-66059214	HMEC	breast:	n/a
29	chr11:66059164-66059214	HPAEpiC	pulmonary alveolar:	n/a
30	chr11:66059164-66059214	ovcar-3	ovarian:	n/a
31	chr11:66059164-66059214	NHBE	bronchial:	n/a
32	chr11:66059164-66059214	AG09319	gingival:	n/a
33	chr11:66059164-66059214	H1-hESC	embryonic stem cell:	embryo
34	chr11:66059164-66059214	Caco-2	colon:	n/a
35	chr11:66059164-66059214	HepG2	liver:	n/a
36	chr11:66059164-66059214	CMK	blood:	n/a
37	chr11:66059164-66059214	SK-N-SH	brain:	n/a
38	chr11:66059164-66059214	BE2_C	brain:	n/a
39	chr11:66059164-66059214	HRE	kidney:	n/a
40	chr11:66059164-66059214	SKMC	muscle:	n/a
41	chr11:66059164-66059214	AG10803	skin:	n/a
42	chr11:66059164-66059214	AG09309	skin:	n/a
43	chr11:66059164-66059214	PrEC	prostate:	n/a
44	chr11:66059164-66059214	ECC-1	luminal epithelium:	n/a
45	chr11:66059164-66059214	HCF	heart:	n/a
46	chr11:66059164-66059214	HAEpiC	amniotic membrane:	n/a
47	chr11:66059164-66059214	GM06990	blood:	n/a
48	chr11:66059164-66059214	AG04450	lung:	fetal
49	chr11:66059164-66059214	ProgFib	skin:	n/a
50	chr11:66059164-66059214	AoSMC	blood vessel:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66054859..66059696-chr11:66135983..66141726,7	K562	blood:
2	chr11:66056831..66061115-chr11:66109718..66114909,6	MCF-7	breast:
3	chr11:66055397..66059696-chr11:66135983..66139913,5	K562	blood:
4	chr11:66034858..66038328-chr11:66053749..66060447,9	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM151A	TF binding region
YIF1A	TF binding region
TMEM151A	CpG island
YIF1A	CpG island
ENSG00000174744	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000254762	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897773	chr11:66041807-66063654	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv555223	chr11:66041807-66064126	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv897774	chr11:66042962-66063654	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv897775	chr11:66042962-66064850	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv897776	chr11:66042962-66066349	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv897777	chr11:66044882-66063654	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv897778	chr11:66044882-66066349	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv897779	chr11:66047523-66063654	Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
14	esv3407698	chr11:66058401-66060949	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	esv32849	chr11:66059034-66060286	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66056000-66061800	Active TSS	Brain Angular Gyrus	brain
2	chr11:66058200-66059400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:66058400-66059400	Bivalent Enhancer	Stomach Mucosa	stomach
4	chr11:66058400-66059800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:66058400-66060200	Active TSS	Brain Substantia Nigra	brain
6	chr11:66058400-66060400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr11:66058400-66060600	Weak transcription	Hela-S3	cervix
8	chr11:66058600-66059800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:66058600-66059800	Bivalent Enhancer	Placenta	Placenta
10	chr11:66058600-66060200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:66058600-66060400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr11:66058600-66060800	Bivalent/Poised TSS	Fetal Brain Female	brain
13	chr11:66058800-66059400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:66058800-66059400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr11:66058800-66059400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr11:66058800-66059400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:66058800-66059400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
18	chr11:66058800-66059600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr11:66058800-66059600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr11:66058800-66059600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
21	chr11:66058800-66060000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr11:66058800-66060200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr11:66058800-66060200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr11:66058800-66060200	Active TSS	Brain Anterior Caudate	brain
25	chr11:66058800-66060200	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr11:66058800-66060200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr11:66058800-66060400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr11:66058800-66060400	Active TSS	Brain Cingulate Gyrus	brain
29	chr11:66058800-66060400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
30	chr11:66058800-66060400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr11:66058800-66060600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr11:66058800-66060600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:66059000-66059400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:66059000-66059400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:66059000-66059400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:66059000-66059400	Bivalent Enhancer	Adipose Nuclei	Adipose
37	chr11:66059000-66059400	Bivalent Enhancer	Fetal Brain Male	brain
38	chr11:66059000-66059400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr11:66059000-66059400	Active TSS	Right Ventricle	heart
40	chr11:66059000-66059400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
41	chr11:66059000-66059400	Bivalent/Poised TSS	Thymus	Thymus
42	chr11:66059000-66059600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:66059000-66059600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:66059000-66059600	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
45	chr11:66059000-66059600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
46	chr11:66059000-66059600	Active TSS	Left Ventricle	heart
47	chr11:66059000-66059600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
48	chr11:66059000-66059600	Bivalent/Poised TSS	HSMM	muscle
49	chr11:66059000-66059600	Bivalent/Poised TSS	NHEK	skin
50	chr11:66059000-66059800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links