Variant report

Variant	rs1251077
Chromosome Location	chr1:76189745-76189746
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:219)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:219 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:76189652-76190073	K562	blood:	n/a	n/a
2	CHD2	chr1:76189638-76190788	HepG2	liver:	n/a	n/a
3	MAZ	chr1:76189639-76190853	GM12878	blood:	n/a	chr1:76190102-76190112
4	POLR2A	chr1:76189138-76190794	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr1:76188834-76190820	K562	blood:	n/a	n/a
6	BHLHE40	chr1:76189589-76190874	K562	blood:	n/a	n/a
7	PML	chr1:76189517-76190978	GM12878	blood:	n/a	n/a
8	MAX	chr1:76189569-76190837	K562	blood:	n/a	chr1:76190102-76190112
9	EGR1	chr1:76189725-76190841	HCT-116	colon:	n/a	chr1:76190083-76190093 chr1:76190382-76190392
10	CEBPB	chr1:76189564-76190590	Hela-S3	cervix:	n/a	n/a
11	RFX5	chr1:76189384-76190821	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:76189561-76190902	HepG2	liver:	n/a	n/a
13	YY1	chr1:76189745-76190776	SK-N-SH	brain:	n/a	chr1:76190084-76190093
14	POLR2A	chr1:76189605-76190991	GM18526	blood:	n/a	n/a
15	PML	chr1:76189595-76190718	K562	blood:	n/a	n/a
16	TCF12	chr1:76189444-76190761	A549	lung:	n/a	chr1:76190582-76190589
17	TAF1	chr1:76189639-76190969	ECC-1	luminal epithelium:	n/a	n/a
18	TAF1	chr1:76189628-76190771	ECC-1	luminal epithelium:	n/a	n/a
19	RCOR1	chr1:76189573-76190883	Hela-S3	cervix:	n/a	n/a
20	NFIC	chr1:76189591-76189939	HepG2	liver:	n/a	n/a
21	MYC	chr1:76188822-76190918	K562	blood:	n/a	chr1:76190102-76190112
22	POLR2A	chr1:76189565-76190861	GM12892	blood:	n/a	n/a
23	RUNX3	chr1:76189638-76190865	GM12878	blood:	n/a	n/a
24	TBP	chr1:76189244-76190760	GM12878	blood:	n/a	n/a
25	MAX	chr1:76189578-76190813	SK-N-SH	brain:	n/a	chr1:76190102-76190112
26	POLR2A	chr1:76189169-76190755	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr1:76189441-76190931	K562	blood:	n/a	n/a
28	TBP	chr1:76189666-76190734	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:76189515-76190831	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr1:76189730-76190895	GM12891	blood:	n/a	n/a
31	POLR2A	chr1:76189592-76190841	PBDE	blood:	n/a	n/a
32	POLR2A	chr1:76189485-76191195	GM18505	blood:	n/a	n/a
33	MAX	chr1:76189673-76190841	K562	blood:	n/a	chr1:76190102-76190112
34	HCFC1	chr1:76189604-76190871	K562	blood:	n/a	n/a
35	POLR2A	chr1:76188970-76190848	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:76189514-76190796	HUVEC	blood vessel:	n/a	n/a
37	RCOR1	chr1:76189250-76190827	K562	blood:	n/a	n/a
38	POLR2A	chr1:76189337-76190899	Hela-S3	cervix:	n/a	n/a
39	NR2F2	chr1:76189594-76190632	K562	blood:	n/a	chr1:76189800-76189815 chr1:76190250-76190265
40	NFIC	chr1:76189603-76190026	HepG2	liver:	n/a	n/a
41	MYC	chr1:76188955-76190842	K562	blood:	n/a	chr1:76190102-76190112
42	IRF1	chr1:76189724-76190752	K562	blood:	n/a	chr1:76189864-76189877 chr1:76190686-76190700 chr1:76190686-76190696 chr1:76190682-76190696 chr1:76190680-76190697 chr1:76190381-76190395 chr1:76189864-76189878 chr1:76189864-76189876 chr1:76190001-76190015 chr1:76190685-76190696 chr1:76190176-76190187 chr1:76189863-76189874 chr1:76189864-76189877 chr1:76190684-76190704 chr1:76189859-76189876
43	POLR2A	chr1:76188739-76192883	GM12878	blood:	n/a	n/a
44	REST	chr1:76189349-76190977	H1-neurons	neurons:	n/a	chr1:76190284-76190297
45	POLR2A	chr1:76189346-76191616	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr1:76189605-76190831	K562	blood:	n/a	n/a
47	TEAD4	chr1:76189609-76190693	K562	blood:	n/a	n/a
48	POLR2A	chr1:76189722-76190686	HCT-116	colon:	n/a	n/a
49	POLR2A	chr1:76189351-76190933	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr1:76189286-76190972	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:76189707-76189757	HCT-116	colon:	n/a
2	chr1:76189707-76189757	HAEpiC	amniotic membrane:	n/a
3	chr1:76189707-76189757	MCF-7	breast:	n/a
4	chr1:76189707-76189757	AoSMC	blood vessel:	n/a
5	chr1:76189707-76189757	Hela-S3	cervix:	n/a
6	chr1:76189707-76189757	PANC-1	pancreas:	n/a
7	chr1:76189707-76189757	Jurkat	blood:	n/a
8	chr1:76189707-76189757	BJ	skin:	n/a
9	chr1:76189707-76189757	GM12878	blood:	n/a
10	chr1:76189707-76189757	Hepatocyte	liver:	n/a
11	chr1:76189707-76189757	H1-hESC	embryonic stem cell:	embryo
12	chr1:76189707-76189757	GM19239	blood:	n/a
13	chr1:76189707-76189757	GM06990	blood:	n/a
14	chr1:76189707-76189757	SAEC	small airway:	n/a
15	chr1:76189707-76189757	GM12891	blood:	n/a
16	chr1:76189707-76189757	HEEpiC	esophagus:	n/a
17	chr1:76189707-76189757	AG09319	gingival:	n/a
18	chr1:76189707-76189757	A549	lung:	n/a
19	chr1:76189707-76189757	ECC-1	luminal epithelium:	n/a
20	chr1:76189707-76189757	NT2-D1	testis:	n/a
21	chr1:76189707-76189757	HCM	heart:	n/a
22	chr1:76189707-76189757	HNPCEpiC	eye:	n/a
23	chr1:76189707-76189757	HMEC	breast:	n/a
24	chr1:76189707-76189757	HepG2	liver:	n/a
25	chr1:76189707-76189757	RPTEC	kidney:	n/a
26	chr1:76189707-76189757	K562	blood:	n/a
27	chr1:76189707-76189757	AG09309	skin:	n/a
28	chr1:76189707-76189757	Caco-2	colon:	n/a
29	chr1:76189707-76189757	NB4	blood:	n/a
30	chr1:76189707-76189757	SK-N-MC	brain:	n/a
31	chr1:76189707-76189757	U87	brain:	n/a
32	chr1:76189707-76189757	HIPEpiC	eye:	n/a
33	chr1:76189707-76189757	AG04450	lung:	fetal
34	chr1:76189707-76189757	NHBE	bronchial:	n/a
35	chr1:76189707-76189757	HL-60	blood:	n/a
36	chr1:76189707-76189757	ProgFib	skin:	n/a
37	chr1:76189707-76189757	AG04449	skin:	fetal
38	chr1:76189707-76189757	IMR90	lung:	fetal
39	chr1:76189707-76189757	HUVEC	blood vessel:	n/a
40	chr1:76189707-76189757	PrEC	prostate:	n/a
41	chr1:76189707-76189757	BE2_C	brain:	n/a
42	chr1:76189707-76189757	HEK293	kidney:	embryo
43	chr1:76189707-76189757	HRE	kidney:	n/a
44	chr1:76189707-76189757	HCPEpiC	choroid plexus:	n/a
45	chr1:76189707-76189757	SKMC	muscle:	n/a
46	chr1:76189707-76189757	HRCEpiC	kidney:	n/a
47	chr1:76189707-76189757	SK-N-SH_RA	brain:	n/a
48	chr1:76189707-76189757	MCF10A-Er-Src	breast:	n/a
49	chr1:76189707-76189757	NHDF-neo	bronchial:	n/a
50	chr1:76189707-76189757	NH-A	brain:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:76189501..76190437-chr1:76251743..76252335,2	NB4	blood:
2	chr1:76189532..76190105-chr1:76251441..76252104,2	MCF-7	breast:
3	chr1:76188769..76191418-chr1:76197121..76200007,3	MCF-7	breast:
4	chr1:76188658..76192178-chr1:76249968..76253902,5	MCF-7	breast:
5	chr1:76187424..76195796-chr1:76248839..76258922,52	K562	blood:
6	chr1:76189545..76190479-chr8:125486401..125487035,2	Hela-S3	cervix:
7	chr1:76188740..76191486-chr1:76199573..76201902,4	K562	blood:
8	chr1:76188764..76194417-chr1:76259356..76264333,14	K562	blood:
9	chr1:76189028..76194220-chr1:76209012..76215464,6	K562	blood:
10	chr1:76189700..76190212-chr9:130565796..130566746,2	Hela-S3	cervix:
11	chr1:76186306..76195796-chr1:76248732..76266552,73	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178193	TF binding region
ACADM	TF binding region
ENSG00000178193	CpG island
ACADM	CpG island
ENSG00000170881	Chromatin interaction
ENSG00000181227	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000117054	Chromatin interaction
ENSG00000207241	Chromatin interaction
ENSG00000136877	Chromatin interaction
ENSG00000206620	Chromatin interaction
ENSG00000057468	Chromatin interaction
ENSG00000201487	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1093006	0.84[ASN][1000 genomes]
rs1093009	0.84[ASN][1000 genomes]
rs11161439	0.86[ASN][1000 genomes]
rs11161447	0.81[ASN][1000 genomes]
rs11161465	0.90[ASN][1000 genomes]
rs11161493	0.86[AFR][1000 genomes]
rs11161600	0.81[ASN][1000 genomes]
rs11161704	0.81[ASN][1000 genomes]
rs11164035	0.86[ASN][1000 genomes]
rs11164037	0.86[ASN][1000 genomes]
rs1144328	0.82[ASN][1000 genomes]
rs1144331	0.81[ASN][1000 genomes]
rs1144333	0.81[ASN][1000 genomes]
rs1144337	0.81[ASN][1000 genomes]
rs1144339	0.81[ASN][1000 genomes]
rs1144341	0.81[ASN][1000 genomes]
rs1144342	0.81[ASN][1000 genomes]
rs1146572	0.86[ASN][1000 genomes]
rs1146577	0.80[ASN][1000 genomes]
rs1146592	0.86[ASN][1000 genomes]
rs1146593	0.84[ASN][1000 genomes]
rs1146602	0.80[ASN][1000 genomes]
rs1146645	0.82[ASN][1000 genomes]
rs1146647	0.82[ASN][1000 genomes]
rs1146649	0.81[ASN][1000 genomes]
rs1146651	0.81[ASN][1000 genomes]
rs1146652	0.81[ASN][1000 genomes]
rs12022011	0.89[ASN][1000 genomes]
rs12027620	0.82[ASN][1000 genomes]
rs12032051	0.81[ASN][1000 genomes]
rs12034697	0.85[ASN][1000 genomes]
rs12045299	0.85[ASN][1000 genomes]
rs12136754	0.83[AFR][1000 genomes]
rs12404553	0.85[ASN][1000 genomes]
rs1250875	0.86[ASN][1000 genomes]
rs1250877	0.86[ASN][1000 genomes]
rs1250878	0.86[ASN][1000 genomes]
rs1250882	0.81[ASN][1000 genomes]
rs1251065	0.86[ASN][1000 genomes]
rs1251078	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1251079	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1251270	0.81[ASN][1000 genomes]
rs1251273	0.81[ASN][1000 genomes]
rs1251274	0.81[ASN][1000 genomes]
rs12563737	0.89[ASN][1000 genomes]
rs12703	0.82[ASN][1000 genomes]
rs12728962	0.81[ASN][1000 genomes]
rs12732722	0.81[ASN][1000 genomes]
rs12744608	0.86[ASN][1000 genomes]
rs12747967	0.86[ASN][1000 genomes]
rs12756349	0.81[ASN][1000 genomes]
rs12757213	0.80[ASN][1000 genomes]
rs1323734	0.84[ASN][1000 genomes]
rs1391518	0.86[ASN][1000 genomes]
rs1391520	0.86[ASN][1000 genomes]
rs1498317	0.80[AFR][1000 genomes]
rs1535740	0.85[ASN][1000 genomes]
rs1591120	0.85[ASN][1000 genomes]
rs1621198	0.84[ASN][1000 genomes]
rs1631498	0.81[ASN][1000 genomes]
rs1767459	0.83[ASN][1000 genomes]
rs1770513	0.83[ASN][1000 genomes]
rs1826978	0.85[ASN][1000 genomes]
rs1858536	0.80[AFR][1000 genomes]
rs1890452	0.84[AFR][1000 genomes]
rs1960528	0.84[ASN][1000 genomes]
rs2012536	0.82[ASN][1000 genomes]
rs2153126	0.87[AFR][1000 genomes]
rs2185435	0.90[AFR][1000 genomes]
rs2185436	0.87[AFR][1000 genomes]
rs2275378	0.87[AFR][1000 genomes]
rs2788655	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35837767	0.86[ASN][1000 genomes]
rs3818855	0.87[AFR][1000 genomes]
rs57186386	0.87[AFR][1000 genomes]
rs5745327	0.82[ASN][1000 genomes]
rs5745343	0.81[ASN][1000 genomes]
rs5745354	0.81[ASN][1000 genomes]
rs5745392	0.81[ASN][1000 genomes]
rs6593514	0.87[AFR][1000 genomes]
rs6665431	0.81[ASN][1000 genomes]
rs6668963	0.81[ASN][1000 genomes]
rs6676182	0.89[ASN][1000 genomes]
rs6695055	0.84[ASN][1000 genomes]
rs67108483	0.86[ASN][1000 genomes]
rs696677	0.83[ASN][1000 genomes]
rs696679	0.84[ASN][1000 genomes]
rs699677	0.84[ASN][1000 genomes]
rs699683	0.87[ASN][1000 genomes]
rs699824	0.84[ASN][1000 genomes]
rs699825	0.84[ASN][1000 genomes]
rs71502708	0.82[ASN][1000 genomes]
rs7417486	0.85[ASN][1000 genomes]
rs7535991	0.80[AFR][1000 genomes]
rs7541058	0.84[AFR][1000 genomes]
rs7544117	0.80[AFR][1000 genomes]
rs7546641	0.80[AFR][1000 genomes]
rs7548695	0.88[ASN][1000 genomes]
rs7548991	0.85[ASN][1000 genomes]
rs7550974	0.84[AFR][1000 genomes]
rs7554984	0.87[AFR][1000 genomes]
rs814851	0.84[ASN][1000 genomes]
rs814855	0.84[ASN][1000 genomes]
rs815301	0.86[ASN][1000 genomes]
rs815305	0.84[ASN][1000 genomes]
rs815309	0.87[ASN][1000 genomes]
rs9660848	0.89[ASN][1000 genomes]

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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv870520	chr1:76088392-76206490	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv871572	chr1:76161889-76208488	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76189000-76189800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:76189000-76189800	Flanking Active TSS	Brain Cingulate Gyrus	brain
3	chr1:76189000-76189800	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr1:76189000-76191200	Active TSS	Brain Hippocampus Middle	brain
5	chr1:76189000-76191400	Active TSS	A549	lung
6	chr1:76189000-76191600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:76189000-76191600	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr1:76189200-76189800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:76189200-76189800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:76189200-76189800	Flanking Active TSS	Liver	Liver
11	chr1:76189200-76189800	Flanking Active TSS	Brain Angular Gyrus	brain
12	chr1:76189200-76189800	Flanking Active TSS	Colon Smooth Muscle	Colon
13	chr1:76189200-76189800	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr1:76189200-76189800	Flanking Active TSS	Fetal Brain Female	brain
15	chr1:76189200-76189800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:76189200-76189800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:76189200-76189800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr1:76189200-76189800	Flanking Active TSS	Dnd41	blood
19	chr1:76189200-76189800	Flanking Active TSS	GM12878-XiMat	blood
20	chr1:76189200-76190000	Flanking Active TSS	HUVEC	blood vessel
21	chr1:76189200-76191000	Active TSS	Fetal Brain Male	brain
22	chr1:76189200-76191400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr1:76189200-76191600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:76189200-76191600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:76189200-76191600	Active TSS	Brain Anterior Caudate	brain
26	chr1:76189200-76191800	Active TSS	Esophagus	oesophagus
27	chr1:76189200-76191800	Active TSS	HSMM	muscle
28	chr1:76189200-76192000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr1:76189200-76192400	Active TSS	HMEC	breast
30	chr1:76189200-76192400	Active TSS	NHDF-Ad	bronchial
31	chr1:76189400-76189800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr1:76189400-76189800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr1:76189400-76189800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr1:76189400-76189800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:76189400-76189800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:76189400-76189800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr1:76189400-76189800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr1:76189400-76189800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr1:76189400-76189800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr1:76189400-76189800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr1:76189400-76189800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:76189400-76189800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr1:76189400-76189800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:76189400-76189800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr1:76189400-76189800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:76189400-76189800	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr1:76189400-76189800	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr1:76189400-76189800	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr1:76189400-76189800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr1:76189400-76189800	Flanking Active TSS	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links