Variant report

Variant	rs572691194
Chromosome Location	chr1:151811544-151811545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr1:151811518-151811693	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr1:151811242-151811572	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:151810965-151813837	H1-hESC	embryonic stem cell:	n/a	n/a
4	HDAC2	chr1:151811487-151813549	MCF-7	breast:	n/a	n/a
5	POLR2A	chr1:151811475-151811647	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr1:151811020-151811724	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr1:151810927-151811691	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr1:151810458-151811711	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr1:151810916-151811663	H1-hESC	embryonic stem cell:	n/a	chr1:151811542-151811551
10	MAX	chr1:151810349-151811698	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:151811110-151811687	H1-hESC	embryonic stem cell:	n/a	n/a
12	BRCA1	chr1:151811457-151811642	H1-hESC	embryonic stem cell:	n/a	n/a
13	TEAD4	chr1:151811316-151811653	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr1:151811368-151813382	MCF-7	breast:	n/a	n/a
15	SIN3A	chr1:151810930-151812794	H1-hESC	embryonic stem cell:	n/a	chr1:151811550-151811563 chr1:151812644-151812657
16	E2F6	chr1:151810169-151812785	H1-hESC	embryonic stem cell:	n/a	chr1:151811992-151812003 chr1:151812264-151812273 chr1:151811542-151811551
17	PAX5	chr1:151811476-151811668	GM12892	blood:	n/a	n/a
18	ELF1	chr1:151810413-151811645	GM12878	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151510584..151515702-chr1:151808389..151812312,7	MCF-7	breast:
2	chr1:151811113..151814780-chr1:151962857..151966577,5	MCF-7	breast:
3	chr1:151481758..151484470-chr1:151811083..151813836,2	MCF-7	breast:
4	chr1:151509575..151514119-chr1:151809649..151812293,5	MCF-7	breast:
5	chr1:151517981..151521165-chr1:151811031..151814404,3	MCF-7	breast:
6	chr1:151804539..151806807-chr1:151808292..151812161,4	K562	blood:
7	chr1:151811289..151813679-chr17:43235374..43237810,2	MCF-7	breast:
8	chr1:151734307..151737224-chr1:151809345..151813879,7	MCF-7	breast:
9	chr1:151542468..151544552-chr1:151811303..151812825,2	MCF-7	breast:
10	chr1:151506418..151509266-chr1:151811121..151813998,3	MCF-7	breast:
11	chr1:151717253..151722089-chr1:151808382..151812448,4	MCF-7	breast:
12	chr1:151810783..151812535-chr1:151860499..151863108,2	MCF-7	breast:
13	chr1:151764210..151765820-chr1:151809530..151811612,2	MCF-7	breast:
14	chr1:151804012..151806616-chr1:151810661..151813276,2	K562	blood:
15	chr1:151795525..151798477-chr1:151809091..151811611,2	MCF-7	breast:
16	chr1:151810931..151813859-chr1:151881520..151883452,3	MCF-7	breast:
17	chr1:151371973..151373501-chr1:151810861..151813533,2	MCF-7	breast:
18	chr1:151811099..151812634-chr7:103621578..103623542,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OAZ3-2	chr1:151811539-151811581	NONHSAT006439

No data

Variant related genes	Relation type
ENSG00000234614	TF binding region
ENSG00000143450	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000206980	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000224505	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000159445	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516369	chr1:151780177-151820324	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1804657	chr1:151784152-151825756	Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv3360539	chr1:151809753-151812301	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151804600-151812000	Enhancers	Pancreas	Pancrea
2	chr1:151806400-151811800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:151809000-151812000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr1:151809600-151812800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:151810000-151818800	Weak transcription	A549	lung
6	chr1:151810200-151811600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:151810200-151812400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
8	chr1:151810200-151812600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr1:151810200-151812800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:151810400-151811600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:151810400-151811600	Weak transcription	NHEK	skin
12	chr1:151810400-151811800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:151810400-151812400	Weak transcription	Hela-S3	cervix
14	chr1:151810400-151812600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:151810400-151812600	Flanking Active TSS	Right Ventricle	heart
16	chr1:151810400-151812800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:151810400-151812800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr1:151810400-151812800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:151810400-151812800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Thymus	Thymus
22	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
23	chr1:151810400-151813000	Active TSS	Brain Substantia Nigra	brain
24	chr1:151810600-151811600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:151810600-151811600	Active TSS	Ovary	ovary
26	chr1:151810600-151811800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
27	chr1:151810600-151811800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:151810600-151812000	Active TSS	Right Atrium	heart
29	chr1:151810600-151812600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr1:151810600-151813000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr1:151810600-151813000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:151810800-151811600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:151810800-151811600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:151810800-151811600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:151810800-151811600	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr1:151810800-151811600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
37	chr1:151810800-151811600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
38	chr1:151810800-151811600	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr1:151810800-151811800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:151810800-151812400	Active TSS	Esophagus	oesophagus
41	chr1:151810800-151813000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr1:151810800-151813200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
43	chr1:151810800-151813200	Flanking Active TSS	HMEC	breast
44	chr1:151811000-151811600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr1:151811000-151811600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr1:151811000-151812000	Weak transcription	HepG2	liver
47	chr1:151811000-151812400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:151811000-151812400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:151811000-151812400	Enhancers	Lung	lung
50	chr1:151811000-151812400	Enhancers	Small Intestine	intestine

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