Variant report

Variant	rs969662
Chromosome Location	chr1:151812578-151812579
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr1:151812235-151812769	GM12878	blood:	n/a	chr1:151812733-151812740
2	TAF1	chr1:151811938-151812802	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:151811902-151812864	MCF-7	breast:	n/a	n/a
4	CHD2	chr1:151812048-151812691	GM12878	blood:	n/a	n/a
5	TAF1	chr1:151811943-151812624	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr1:151811909-151812865	MCF-7	breast:	n/a	n/a
7	POLR2A	chr1:151812106-151812619	MCF10A-Er-Src	breast:	n/a	n/a
8	TAF1	chr1:151811648-151812942	MCF-7	breast:	n/a	n/a
9	POLR2A	chr1:151811949-151812752	PANC-1	pancreas:	n/a	n/a
10	JUND	chr1:151811998-151812783	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr1:151812069-151812738	GM12878	blood:	n/a	n/a
12	MYC	chr1:151812054-151812754	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr1:151811951-151812746	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:151811938-151812857	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:151811862-151812863	GM12878	blood:	n/a	n/a
16	MAX	chr1:151811972-151812781	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr1:151810965-151813837	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr1:151811872-151812737	H1-hESC	embryonic stem cell:	n/a	n/a
19	POU2F2	chr1:151812224-151812716	GM12878	blood:	n/a	n/a
20	TBP	chr1:151812236-151812600	HepG2	liver:	n/a	n/a
21	FOXA1	chr1:151812486-151812835	T-47D	breast:	n/a	n/a
22	POLR2A	chr1:151812338-151812950	HepG2	liver:	n/a	n/a
23	POLR2A	chr1:151812069-151812703	Gliobla	brain:	n/a	n/a
24	MAZ	chr1:151811959-151812941	GM12878	blood:	n/a	n/a
25	MAX	chr1:151812003-151812733	ECC-1	luminal epithelium:	n/a	n/a
26	MAX	chr1:151811870-151813355	MCF-7	breast:	n/a	n/a
27	MYC	chr1:151811856-151812616	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:151811884-151812892	H1-hESC	embryonic stem cell:	n/a	n/a
29	FOXA1	chr1:151812496-151812857	T-47D	breast:	n/a	n/a
30	POLR2A	chr1:151812014-151812696	GM12892	blood:	n/a	n/a
31	POLR2A	chr1:151811891-151813029	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr1:151812110-151812596	GM12878	blood:	n/a	n/a
33	RAD21	chr1:151811972-151812642	H1-hESC	embryonic stem cell:	n/a	chr1:151812102-151812114 chr1:151812589-151812599 chr1:151812530-151812543 chr1:151812155-151812165 chr1:151812079-151812093
34	ELF1	chr1:151811840-151812798	GM12878	blood:	n/a	n/a
35	MAX	chr1:151811910-151812694	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:151812268-151812682	HepG2	liver:	n/a	n/a
37	HDAC2	chr1:151811487-151813549	MCF-7	breast:	n/a	n/a
38	POLR2A	chr1:151812171-151812580	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:151812151-151812716	GM12878	blood:	n/a	n/a
40	HDAC2	chr1:151811902-151813102	MCF-7	breast:	n/a	n/a
41	POLR2A	chr1:151811876-151812898	MCF-7	breast:	n/a	n/a
42	POLR2A	chr1:151811919-151812724	ProgFib	skin:	n/a	n/a
43	RUNX3	chr1:151812229-151812611	GM12878	blood:	n/a	n/a
44	GTF2F1	chr1:151812048-151812614	H1-hESC	embryonic stem cell:	n/a	n/a
45	TBP	chr1:151811867-151812776	H1-hESC	embryonic stem cell:	n/a	n/a
46	SP1	chr1:151812265-151812588	GM12878	blood:	n/a	chr1:151812297-151812309 chr1:151812299-151812308 chr1:151812297-151812309
47	TBP	chr1:151811914-151812628	GM12878	blood:	n/a	n/a
48	HEY1	chr1:151812120-151812639	HepG2	liver:	n/a	n/a
49	TCF12	chr1:151811920-151812656	ECC-1	luminal epithelium:	n/a	chr1:151812164-151812171
50	POLR2A	chr1:151812052-151812659	GM19193	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151811113..151814780-chr1:151962857..151966577,5	MCF-7	breast:
2	chr1:151481758..151484470-chr1:151811083..151813836,2	MCF-7	breast:
3	chr1:151774281..151778666-chr1:151812036..151815315,4	MCF-7	breast:
4	chr1:151797661..151799547-chr1:151812000..151814982,2	MCF-7	breast:
5	chr1:151517981..151521165-chr1:151811031..151814404,3	MCF-7	breast:
6	chr1:151811289..151813679-chr17:43235374..43237810,2	MCF-7	breast:
7	chr1:151734307..151737224-chr1:151809345..151813879,7	MCF-7	breast:
8	chr1:151542468..151544552-chr1:151811303..151812825,2	MCF-7	breast:
9	chr1:151506418..151509266-chr1:151811121..151813998,3	MCF-7	breast:
10	chr1:151812161..151813920-chr1:152008098..152012154,3	MCF-7	breast:
11	chr1:151804012..151806616-chr1:151810661..151813276,2	K562	blood:
12	chr1:151810931..151813859-chr1:151881520..151883452,3	MCF-7	breast:
13	chr1:151371973..151373501-chr1:151810861..151813533,2	MCF-7	breast:
14	chr1:151811099..151812634-chr7:103621578..103623542,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234614	TF binding region
ENSG00000197747	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000224505	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000213171	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000143365	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4845367	1.00[AFR][1000 genomes]
rs6587621	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151809600-151812800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:151810000-151818800	Weak transcription	A549	lung
3	chr1:151810200-151812600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr1:151810200-151812800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:151810400-151812600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:151810400-151812600	Flanking Active TSS	Right Ventricle	heart
7	chr1:151810400-151812800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:151810400-151812800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:151810400-151812800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:151810400-151812800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Thymus	Thymus
13	chr1:151810400-151812800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
14	chr1:151810400-151813000	Active TSS	Brain Substantia Nigra	brain
15	chr1:151810600-151812600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:151810600-151813000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr1:151810600-151813000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:151810800-151813000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr1:151810800-151813200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
20	chr1:151810800-151813200	Flanking Active TSS	HMEC	breast
21	chr1:151811000-151812600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
22	chr1:151811200-151812600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
23	chr1:151811200-151812800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr1:151811200-151812800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr1:151811200-151813000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr1:151811200-151813000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr1:151811200-151813200	Bivalent Enhancer	Fetal Lung	lung
28	chr1:151811400-151812600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
29	chr1:151811400-151812600	Bivalent Enhancer	Fetal Heart	heart
30	chr1:151811400-151812600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
31	chr1:151811400-151812800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:151811400-151812800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
33	chr1:151811400-151813000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr1:151811400-151813000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
35	chr1:151811400-151813000	Flanking Bivalent TSS/Enh	Placenta	Placenta
36	chr1:151811400-151813000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
37	chr1:151811400-151813200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr1:151811400-151813200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:151811600-151812600	Active TSS	H1 Cell Line	embryonic stem cell
40	chr1:151811600-151812800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:151811600-151812800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:151811600-151812800	Bivalent Enhancer	Spleen	Spleen
43	chr1:151811600-151813000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:151811600-151813000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:151811600-151814000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr1:151811800-151812600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:151811800-151812600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:151811800-151812600	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
49	chr1:151811800-151812600	Bivalent Enhancer	NH-A	brain
50	chr1:151811800-151812800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood

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