Variant report

Variant	rs60631776
Chromosome Location	chr1:149899767-149899768
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	MXI1	chr1:149899285-149900425	GM12878	blood:	n/a	n/a
2	BHLHE40	chr1:149899533-149900395	K562	blood:	n/a	n/a
3	POLR2A	chr1:149899109-149900400	HUVEC	blood vessel:	n/a	n/a
4	USF2	chr1:149899626-149900426	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:149899456-149900449	GM12878	blood:	n/a	n/a
6	CTCF	chr1:149899615-149899825	Spleen_OC	spleen:	n/a	n/a
7	SRF	chr1:149899633-149899872	HepG2	liver:	n/a	chr1:149899741-149899751
8	POLR2A	chr1:149899422-149900535	H1-hESC	embryonic stem cell:	n/a	n/a
9	GABPA	chr1:149899373-149899928	HepG2	liver:	n/a	chr1:149899472-149899481 chr1:149899741-149899750
10	TAF1	chr1:149899441-149900305	SK-N-SH	brain:	n/a	n/a
11	ELF1	chr1:149899387-149899945	HepG2	liver:	n/a	chr1:149899714-149899723 chr1:149899738-149899750 chr1:149899713-149899724
12	POLR2A	chr1:149899317-149900532	K562	blood:	n/a	n/a
13	FOXA1	chr1:149899506-149899963	T-47D	breast:	n/a	n/a
14	GABPA	chr1:149899477-149899947	H1-hESC	embryonic stem cell:	n/a	chr1:149899741-149899750
15	TAF1	chr1:149899469-149900255	Hela-S3	cervix:	n/a	n/a
16	GATA3	chr1:149899209-149900518	MCF-7	breast:	n/a	chr1:149899235-149899245
17	MAFK	chr1:149899477-149900333	Hela-S3	cervix:	n/a	n/a
18	STAT5A	chr1:149899353-149900027	GM12878	blood:	n/a	chr1:149899513-149899525 chr1:149899512-149899524
19	SIN3AK20	chr1:149899310-149900546	HCT-116	colon:	n/a	n/a
20	IRF1	chr1:149899488-149900506	K562	blood:	n/a	chr1:149899740-149899754 chr1:149899800-149899813 chr1:149899977-149899987 chr1:149899977-149899991
21	FOSL2	chr1:149899275-149900330	A549	lung:	n/a	chr1:149899589-149899603 chr1:149899978-149899990
22	ETS1	chr1:149899217-149900015	A549	lung:	n/a	chr1:149899711-149899722 chr1:149899713-149899722 chr1:149899713-149899722 chr1:149899711-149899721
23	ELK1	chr1:149899589-149899845	K562	blood:	n/a	n/a
24	TEAD4	chr1:149899367-149900314	A549	lung:	n/a	n/a
25	HEY1	chr1:149899491-149900276	HepG2	liver:	n/a	n/a
26	RFX5	chr1:149899324-149900402	Hela-S3	cervix:	n/a	n/a
27	MXI1	chr1:149899048-149900437	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:149899322-149900831	HCT-116	colon:	n/a	n/a
29	MXI1	chr1:149899446-149899806	K562	blood:	n/a	n/a
30	TAF1	chr1:149899454-149900007	K562	blood:	n/a	n/a
31	GABPA	chr1:149899449-149899883	GM12878	blood:	n/a	chr1:149899472-149899481 chr1:149899741-149899750
32	SRF	chr1:149899605-149899883	GM12878	blood:	n/a	chr1:149899741-149899751
33	PML	chr1:149899312-149900448	MCF-7	breast:	n/a	n/a
34	GABPA	chr1:149898674-149900805	MCF-7	breast:	n/a	chr1:149899472-149899481 chr1:149899741-149899750
35	PAX5	chr1:149899393-149899956	GM12892	blood:	n/a	chr1:149899758-149899767 chr1:149899710-149899719
36	RELA	chr1:149899314-149900004	GM19099	blood:	n/a	n/a
37	POLR2A	chr1:149899191-149900773	H1-hESC	embryonic stem cell:	n/a	n/a
38	SIX5	chr1:149899524-149899880	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:149899434-149900011	HUVEC	blood vessel:	n/a	n/a
40	TAF1	chr1:149899347-149900292	K562	blood:	n/a	n/a
41	TAF1	chr1:149899533-149899948	GM12892	blood:	n/a	n/a
42	ATF2	chr1:149899510-149900441	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr1:149899215-149900534	ProgFib	skin:	n/a	n/a
44	SIN3AK20	chr1:149899253-149900049	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr1:149899443-149900276	GM10847	blood:	n/a	n/a
46	EP300	chr1:149899669-149899858	GM12878	blood:	n/a	chr1:149899714-149899721
47	TAF1	chr1:149899418-149900344	H1-hESC	embryonic stem cell:	n/a	n/a
48	TBP	chr1:149899552-149899978	K562	blood:	n/a	n/a
49	ELK1	chr1:149899481-149900198	Hela-S3	cervix:	n/a	n/a
50	HA-E2F1	chr1:149899191-149900200	MCF-7	breast:	n/a	chr1:149899494-149899509 chr1:149899472-149899481

No.	Distal block	Cell Line	Cell type
1	chr1:149899389..149899917-chr17:47022111..47022743,2	Hela-S3	cervix:
2	chr1:149899712..149901578-chr17:57922642..57925190,2	MCF-7	breast:
3	chr1:149899174..149900209-chr9:140135334..140136049,4	Hela-S3	cervix:
4	chr1:149898401..149901391-chr1:150266202..150267826,2	MCF-7	breast:
5	chr1:149898390..149901293-chr1:150207723..150209690,2	K562	blood:
6	chr1:149899325..149899918-chr18:21166428..21167061,2	Hela-S3	cervix:
7	chr1:149899645..149900310-chr14:34931155..34932030,2	HCT-116	colon:
8	chr1:149899633..149900419-chr16:19124707..19125544,2	Hela-S3	cervix:
9	chr1:149899046..149899834-chr11:65266279..65266837,2	Hela-S3	cervix:
10	chr1:149896924..149901430-chr1:149978916..149983998,7	MCF-7	breast:
11	chr1:149899426..149900366-chr8:86089491..86090377,2	HCT-116	colon:
12	chr1:149898402..149900304-chr17:62222265..62224622,2	MCF-7	breast:
13	chr1:149898324..149902062-chr1:150037827..150040253,4	MCF-7	breast:
14	chr1:149899173..149900038-chr9:139981131..139981882,2	HCT-116	colon:
15	chr1:149898259..149901942-chr1:149980885..149984493,5	MCF-7	breast:
16	chr1:149899386..149900210-chr22:43011185..43011858,2	Hela-S3	cervix:
17	chr1:149820332..149822757-chr1:149897925..149900178,4	MCF-7	breast:
18	chr1:149899730..149900499-chr16:4896864..4897624,2	Hela-S3	cervix:
19	chr1:149899695..149901741-chr1:150039776..150042138,2	K562	blood:
20	chr1:149899325..149901492-chr15:44087690..44089956,2	MCF-7	breast:
21	chr1:149897900..149900101-chr1:150038034..150041085,3	K562	blood:
22	chr1:149813582..149820276-chr1:149898052..149903861,9	MCF-7	breast:

Variant related genes	Relation type
SF3B4	TF binding region
ENSG00000201524	Chromatin interaction
ENSG00000203812	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000261716	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000272993	Chromatin interaction
ENSG00000203819	Chromatin interaction
ENSG00000133740	Chromatin interaction
ENSG00000140632	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000242028	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000187145	Chromatin interaction
ENSG00000261427	Chromatin interaction
ENSG00000270022	Chromatin interaction
ENSG00000220323	Chromatin interaction
ENSG00000205730	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000183558	Chromatin interaction
ENSG00000141458	Chromatin interaction
ENSG00000165389	Chromatin interaction
ENSG00000159210	Chromatin interaction
ENSG00000177239	Chromatin interaction
ENSG00000129521	Chromatin interaction
ENSG00000251562	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1556934	1.00[AMR][1000 genomes]
rs15916	0.83[AMR][1000 genomes]
rs16832989	1.00[AMR][1000 genomes]
rs16832993	1.00[AMR][1000 genomes]
rs16833048	1.00[AMR][1000 genomes]
rs16836857	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16837054	1.00[AMR][1000 genomes]
rs16837367	1.00[AMR][1000 genomes]
rs16837593	1.00[AMR][1000 genomes]
rs16838449	1.00[AMR][1000 genomes]
rs16838646	1.00[AMR][1000 genomes]
rs16841141	1.00[AMR][1000 genomes]
rs16841623	1.00[AMR][1000 genomes]
rs16841697	1.00[AMR][1000 genomes]
rs56929499	1.00[AMR][1000 genomes]
rs57020352	1.00[AMR][1000 genomes]
rs57182882	1.00[AMR][1000 genomes]
rs57513077	1.00[AMR][1000 genomes]
rs58100431	1.00[AMR][1000 genomes]
rs58137104	0.83[AMR][1000 genomes]
rs58688107	1.00[AMR][1000 genomes]
rs58777569	1.00[AMR][1000 genomes]
rs59462540	1.00[AMR][1000 genomes]
rs59709800	1.00[AMR][1000 genomes]
rs59934949	1.00[AMR][1000 genomes]
rs6664973	1.00[AMR][1000 genomes]
rs6680574	1.00[AMR][1000 genomes]
rs6694482	1.00[AMR][1000 genomes]
rs6700399	1.00[AMR][1000 genomes]
rs73004328	1.00[AMR][1000 genomes]
rs73004398	1.00[AMR][1000 genomes]
rs73004400	1.00[AMR][1000 genomes]
rs73006303	1.00[AMR][1000 genomes]
rs73006306	1.00[AMR][1000 genomes]
rs73006313	1.00[AMR][1000 genomes]
rs73006316	1.00[AMR][1000 genomes]
rs73006318	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006327	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006333	1.00[AMR][1000 genomes]
rs73008163	1.00[AMR][1000 genomes]
rs73008167	1.00[AMR][1000 genomes]
rs73008171	1.00[AMR][1000 genomes]
rs73008191	1.00[AMR][1000 genomes]
rs73008199	1.00[AMR][1000 genomes]
rs73008201	1.00[AMR][1000 genomes]
rs73010104	1.00[AMR][1000 genomes]
rs73010113	1.00[AMR][1000 genomes]
rs73010183	1.00[AMR][1000 genomes]
rs73010186	1.00[AMR][1000 genomes]
rs73010189	1.00[AMR][1000 genomes]
rs73011904	1.00[AMR][1000 genomes]
rs73011906	1.00[AMR][1000 genomes]
rs73011909	1.00[AMR][1000 genomes]
rs73011910	1.00[AMR][1000 genomes]
rs73011912	1.00[AMR][1000 genomes]
rs73011913	1.00[AMR][1000 genomes]
rs73011915	1.00[AMR][1000 genomes]
rs73011930	0.83[AMR][1000 genomes]
rs73016112	1.00[AMR][1000 genomes]
rs7523560	1.00[AMR][1000 genomes]
rs7543861	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 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	chr1:149898400-149899800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
2	chr1:149898600-149900000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:149898600-149900400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
4	chr1:149898600-149900400	Active TSS	HSMMtube	muscle
5	chr1:149898600-149900600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr1:149898600-149900600	Active TSS	Psoas Muscle	Psoas
7	chr1:149898800-149899800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
8	chr1:149898800-149900000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:149898800-149900000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:149898800-149900000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:149898800-149900000	Active TSS	NHLF	lung
12	chr1:149898800-149900200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr1:149898800-149900400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:149898800-149900400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:149898800-149900400	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr1:149898800-149900400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:149898800-149900400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:149898800-149900400	Active TSS	Ovary	ovary
19	chr1:149898800-149900600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:149898800-149900600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:149898800-149900800	Active TSS	H1 Cell Line	embryonic stem cell
22	chr1:149899000-149899800	Active TSS	HepG2	liver
23	chr1:149899000-149900000	Active TSS	Muscle Satellite Cultured Cells	--
24	chr1:149899000-149900000	Active TSS	Fetal Lung	lung
25	chr1:149899000-149900000	Active TSS	Stomach Mucosa	stomach
26	chr1:149899000-149900000	Active TSS	NH-A	brain
27	chr1:149899000-149900200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr1:149899000-149900200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:149899000-149900200	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr1:149899000-149900200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:149899000-149900200	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr1:149899000-149900200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:149899000-149900200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:149899000-149900200	Active TSS	Colon Smooth Muscle	Colon
35	chr1:149899000-149900200	Active TSS	Esophagus	oesophagus
36	chr1:149899000-149900200	Active TSS	Hela-S3	cervix
37	chr1:149899000-149900200	Active TSS	K562	blood
38	chr1:149899000-149900200	Active TSS	NHDF-Ad	bronchial
39	chr1:149899000-149900400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:149899000-149900400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:149899000-149900400	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr1:149899000-149900400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:149899000-149900400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:149899000-149900400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:149899000-149900400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:149899000-149900400	Active TSS	Aorta	Aorta
47	chr1:149899000-149900400	Active TSS	Fetal Heart	heart
48	chr1:149899000-149900400	Active TSS	Fetal Kidney	kidney
49	chr1:149899000-149900400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr1:149899000-149900400	Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links