Variant report

Variant	rs74128609
Chromosome Location	chr1:150944862-150944863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:150943251-150948012	MCF-7	breast:	n/a	chr1:150946541-150946551 chr1:150947366-150947376 chr1:150944384-150944393 chr1:150946655-150946664
2	POLR2A	chr1:150944208-150945014	K562	blood:	n/a	n/a
3	TCF12	chr1:150944173-150944917	ECC-1	luminal epithelium:	n/a	chr1:150944592-150944599 chr1:150944850-150944860
4	POLR2A	chr1:150944459-150945426	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr1:150944820-150944970	AG04450	lung:	n/a	n/a
6	CTCF	chr1:150944720-150944870	GM12871	blood:	n/a	n/a
7	NR2F2	chr1:150943257-150945619	MCF-7	breast:	n/a	n/a
8	CTCF	chr1:150944720-150944870	HUVEC	blood vessel:	n/a	n/a
9	ZNF263	chr1:150944461-150946776	HEK293-T-REx	kidney:	n/a	chr1:150945506-150945515
10	POLR2A	chr1:150944679-150944982	U87	brain:	n/a	n/a
11	YY1	chr1:150944690-150944891	K562	blood:	n/a	n/a
12	CTCF	chr1:150944760-150944910	HVMF	connective:	n/a	n/a
13	POLR2A	chr1:150943397-150945192	HepG2	liver:	n/a	n/a
14	TEAD4	chr1:150943522-150944892	HepG2	liver:	n/a	chr1:150944024-150944033
15	CTCF	chr1:150944469-150945047	K562	blood:	n/a	chr1:150944496-150944505
16	CTCF	chr1:150944573-150944951	K562	blood:	n/a	n/a
17	CTCF	chr1:150944359-150944880	HepG2	liver:	n/a	chr1:150944496-150944505
18	BHLHE40	chr1:150943467-150945102	HepG2	liver:	n/a	chr1:150944854-150944870
19	RCOR1	chr1:150944706-150945234	K562	blood:	n/a	n/a
20	CTCF	chr1:150944720-150944870	HMF	breast:	n/a	n/a
21	POLR2A	chr1:150942736-150945363	MCF-7	breast:	n/a	n/a
22	JUND	chr1:150944563-150944982	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr1:150943391-150945406	MCF-7	breast:	n/a	chr1:150944384-150944393
24	POLR2A	chr1:150944663-150944920	Hela-S3	cervix:	n/a	n/a
25	ZBTB7A	chr1:150944640-150944934	K562	blood:	n/a	n/a
26	NFIC	chr1:150943640-150944970	HepG2	liver:	n/a	n/a
27	RAD21	chr1:150943602-150944896	HepG2	liver:	n/a	chr1:150944854-150944867
28	POLR2A	chr1:150944201-150945055	K562	blood:	n/a	n/a
29	MYBL2	chr1:150943578-150944869	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:150944748-150945159	U87	brain:	n/a	n/a
31	MXI1	chr1:150943226-150945340	IMR90	lung:	n/a	n/a
32	HEY1	chr1:150943571-150945409	HepG2	liver:	n/a	n/a
33	POLR2A	chr1:150943469-150944977	HepG2	liver:	n/a	n/a
34	SP1	chr1:150943572-150944975	HepG2	liver:	n/a	chr1:150944544-150944553 chr1:150943984-150943998 chr1:150944543-150944555 chr1:150944543-150944555 chr1:150943829-150943843 chr1:150943995-150944009 chr1:150944040-150944054 chr1:150944544-150944554
35	NR2F2	chr1:150944500-150945146	K562	blood:	n/a	n/a
36	CTCF	chr1:150944720-150944870	GM12869	blood:	n/a	n/a
37	SIN3AK20	chr1:150943324-150944913	MCF-7	breast:	n/a	n/a
38	TCF12	chr1:150943507-150945193	A549	lung:	n/a	chr1:150944592-150944599 chr1:150943560-150943567 chr1:150944850-150944860
39	POLR2A	chr1:150944207-150945045	K562	blood:	n/a	n/a
40	NR2F2	chr1:150943383-150945450	MCF-7	breast:	n/a	n/a
41	HEY1	chr1:150943580-150945024	HepG2	liver:	n/a	n/a
42	CTCF	chr1:150944683-150944913	IMR90	lung:	n/a	n/a
43	JUND	chr1:150944594-150944993	K562	blood:	n/a	n/a
44	CTCF	chr1:150944720-150944870	HPAF	blood vessel:	n/a	n/a
45	RCOR1	chr1:150944464-150945204	K562	blood:	n/a	n/a
46	GATA3	chr1:150943253-150945525	MCF-7	breast:	n/a	n/a
47	HDAC2	chr1:150944638-150944928	K562	blood:	n/a	n/a
48	CTCF	chr1:150944555-150944941	K562	blood:	n/a	n/a
49	CTCF	chr1:150944740-150944890	GM12868	blood:	n/a	n/a
50	CTCF	chr1:150944760-150944910	HBMEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150847731..150849909-chr1:150942826..150945486,2	K562	blood:
2	chr1:150942078..150949693-chr1:150976791..150984782,24	MCF-7	breast:
3	chr1:150944160..150945692-chr1:151732521..151735210,2	K562	blood:
4	chr1:150532877..150534407-chr1:150944654..150947502,2	MCF-7	breast:
5	chr1:150942864..150945406-chr17:56708894..56710724,2	MCF-7	breast:
6	chr1:150942596..150945124-chr1:151020280..151022010,2	MCF-7	breast:
7	chr1:150944222..150949507-chr1:150975860..150982521,8	K562	blood:
8	chr1:150551378..150553300-chr1:150944488..150946159,2	MCF-7	breast:
9	chr1:150944409..150948293-chr1:150968315..150970666,3	MCF-7	breast:
10	chr1:150667811..150671175-chr1:150944483..150949055,4	MCF-7	breast:
11	chr1:150532195..150535413-chr1:150944658..150948005,3	MCF-7	breast:
12	chr1:150944568..150948169-chr1:151041647..151044581,4	MCF-7	breast:
13	chr1:150943422..150945892-chr1:151029810..151031687,2	MCF-7	breast:
14	chr1:150943930..150948676-chr1:151041268..151044275,5	MCF-7	breast:
15	chr1:150846616..150850276-chr1:150942456..150948926,7	MCF-7	breast:
16	chr1:150942330..150945189-chr13:31190945..31193685,2	MCF-7	breast:
17	chr1:150943913..150947004-chr1:151018258..151022109,4	MCF-7	breast:

Variant related genes	Relation type
CERS2	TF binding region
ENSG00000231073	TF binding region
ENSG00000143457	Chromatin interaction
ENSG00000132952	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000143443	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000189403	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10157132	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090632	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12097548	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832391	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832604	0.93[AFR][1000 genomes]
rs55884154	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56341880	0.89[AMR][1000 genomes]
rs57376891	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57378704	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57734108	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs57746902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58338969	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59687612	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59703669	1.00[AMR][1000 genomes]
rs60676022	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6672625	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6674452	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6703303	1.00[AMR][1000 genomes]
rs74127060	1.00[AMR][1000 genomes]
rs74127063	1.00[AMR][1000 genomes]
rs74127089	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127091	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127092	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128604	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7522741	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7547614	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9988459	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9988521	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv522317	chr1:150933723-150974162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150940400-150945200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:150940800-150945200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:150941800-150945000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:150942600-150945400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:150942600-150945600	Enhancers	Placenta	Placenta
6	chr1:150942800-150945000	Genic enhancers	Fetal Muscle Leg	muscle
7	chr1:150942800-150945000	Enhancers	Right Atrium	heart
8	chr1:150942800-150945200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr1:150942800-150945200	Genic enhancers	Fetal Stomach	stomach
10	chr1:150942800-150945600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:150942800-150945800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr1:150942800-150945800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:150942800-150945800	Enhancers	Ovary	ovary
14	chr1:150942800-150946000	Flanking Active TSS	Liver	Liver
15	chr1:150942800-150946400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:150943000-150945000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:150943000-150945000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:150943000-150945000	Enhancers	Left Ventricle	heart
19	chr1:150943000-150945200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:150943000-150945200	Enhancers	Right Ventricle	heart
21	chr1:150943000-150945400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr1:150943000-150945600	Enhancers	Psoas Muscle	Psoas
23	chr1:150943000-150945800	Enhancers	Esophagus	oesophagus
24	chr1:150943000-150946000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:150943000-150946000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:150943200-150945000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:150943200-150945200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:150943200-150945800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:150943200-150945800	Enhancers	Primary B cells from peripheral blood	blood
30	chr1:150943200-150945800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr1:150943200-150946000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr1:150943200-150946200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr1:150943200-150946400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr1:150943200-150946400	Flanking Active TSS	Osteobl	bone
35	chr1:150943400-150945000	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr1:150943400-150945200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:150943400-150945400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:150943400-150945400	Enhancers	Primary T cells from cord blood	blood
39	chr1:150943400-150945600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:150943400-150945600	Flanking Active TSS	NHDF-Ad	bronchial
41	chr1:150943400-150945800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:150943400-150945800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:150943400-150945800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr1:150943400-150946000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:150943400-150946000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr1:150943400-150946000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
47	chr1:150943400-150946000	Flanking Active TSS	NHLF	lung
48	chr1:150943400-150946200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr1:150943400-150946200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr1:150943400-150946200	Flanking Active TSS	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links