Variant report

Variant	rs5669
Chromosome Location	chr1:71513150-71513151
allele	C/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	chr1:71512359-71513660	H1-hESC	embryonic stem cell:	n/a	chr1:71513532-71513542
2	RAD21	chr1:71512800-71513663	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAL1	chr1:71513006-71513582	K562	blood:	n/a	n/a
4	POLR2A	chr1:71512040-71513854	K562	blood:	n/a	n/a
5	MAX	chr1:71512732-71513736	ECC-1	luminal epithelium:	n/a	chr1:71513532-71513542
6	YY1	chr1:71512342-71513447	H1-hESC	embryonic stem cell:	n/a	chr1:71513364-71513375 chr1:71513412-71513426 chr1:71513421-71513432 chr1:71513329-71513340 chr1:71513328-71513337 chr1:71513322-71513336 chr1:71513360-71513371 chr1:71513319-71513333 chr1:71513423-71513437 chr1:71513426-71513435 chr1:71513423-71513432
7	E2F6	chr1:71512127-71513689	K562	blood:	n/a	chr1:71513534-71513543 chr1:71512854-71512869 chr1:71513390-71513400 chr1:71513430-71513440
8	HA-E2F1	chr1:71512736-71513884	MCF-7	breast:	n/a	chr1:71513534-71513543 chr1:71513390-71513400 chr1:71513430-71513440
9	MYC	chr1:71512553-71513293	MCF-7	breast:	n/a	n/a
10	MYC	chr1:71512002-71513714	K562	blood:	n/a	chr1:71513532-71513542
11	TBL1XR1	chr1:71512827-71513663	K562	blood:	n/a	n/a
12	POLR2A	chr1:71512926-71514768	HepG2	liver:	n/a	n/a
13	CTBP2	chr1:71512452-71513720	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr1:71512961-71513291	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:71512955-71513297	H1-neurons	neurons:	n/a	n/a
16	MYC	chr1:71511963-71513739	K562	blood:	n/a	chr1:71513532-71513542
17	REST	chr1:71513143-71513607	K562	blood:	n/a	chr1:71513498-71513511 chr1:71513412-71513425 chr1:71513371-71513384
18	CHD2	chr1:71512726-71513833	K562	blood:	n/a	chr1:71513535-71513545
19	POLR2A	chr1:71512914-71513686	MCF-7	breast:	n/a	n/a
20	MAX	chr1:71512659-71513320	SK-N-SH	brain:	n/a	n/a
21	ZNF384	chr1:71512933-71513507	K562	blood:	n/a	n/a
22	POLR2A	chr1:71512693-71513812	K562	blood:	n/a	n/a
23	CHD2	chr1:71512955-71513217	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr1:71512702-71513299	H1-hESC	embryonic stem cell:	n/a	n/a
25	GTF2F1	chr1:71512973-71513189	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:71511962-71513787	K562	blood:	n/a	n/a
27	POLR2A	chr1:71512566-71513844	MCF-7	breast:	n/a	n/a
28	RCOR1	chr1:71512005-71513897	K562	blood:	n/a	n/a
29	UBTF	chr1:71511986-71513751	K562	blood:	n/a	n/a
30	MYC	chr1:71512918-71513156	MCF-7	breast:	n/a	n/a
31	CCNT2	chr1:71511971-71513807	K562	blood:	n/a	chr1:71513534-71513543 chr1:71512342-71512351
32	TBL1XR1	chr1:71513094-71513645	K562	blood:	n/a	n/a
33	CBX3	chr1:71512656-71513704	K562	blood:	n/a	n/a
34	HCFC1	chr1:71512856-71513991	K562	blood:	n/a	n/a
35	SIN3A	chr1:71512901-71513674	H1-hESC	embryonic stem cell:	n/a	n/a
36	TBP	chr1:71511997-71513975	K562	blood:	n/a	n/a
37	YY1	chr1:71512598-71513650	K562	blood:	n/a	chr1:71513364-71513375 chr1:71513412-71513426 chr1:71513421-71513432 chr1:71513329-71513340 chr1:71513534-71513543 chr1:71513328-71513337 chr1:71513322-71513336 chr1:71513360-71513371 chr1:71513319-71513333 chr1:71513423-71513437 chr1:71513426-71513435 chr1:71513423-71513432
38	UBTF	chr1:71512011-71513650	K562	blood:	n/a	n/a
39	POLR2A	chr1:71511957-71513949	K562	blood:	n/a	n/a
40	TEAD4	chr1:71512642-71513229	K562	blood:	n/a	n/a
41	MYC	chr1:71512882-71513209	MCF-7	breast:	n/a	n/a
42	POLR2A	chr1:71510621-71513837	K562	blood:	n/a	n/a
43	MAX	chr1:71512839-71513307	MCF-7	breast:	n/a	n/a
44	MAX	chr1:71512882-71513299	K562	blood:	n/a	n/a
45	ZNF143	chr1:71512775-71513398	H1-hESC	embryonic stem cell:	n/a	chr1:71513325-71513335
46	MXI1	chr1:71512967-71513610	K562	blood:	n/a	n/a
47	MXI1	chr1:71513086-71513176	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr1:71511798-71514436	SK-N-MC	brain:	n/a	n/a
49	HEY1	chr1:71512829-71513710	K562	blood:	n/a	chr1:71513326-71513341 chr1:71513320-71513335 chr1:71513421-71513436 chr1:71513385-71513400
50	E2F6	chr1:71512180-71513540	H1-hESC	embryonic stem cell:	n/a	chr1:71512854-71512869 chr1:71513390-71513400 chr1:71513430-71513440

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:71513114-71513164	PANC-1	pancreas:	n/a
2	chr1:71513114-71513164	T-47D	breast:	n/a
3	chr1:71513114-71513164	HCF	heart:	n/a
4	chr1:71513114-71513164	HAEpiC	amniotic membrane:	n/a
5	chr1:71513114-71513164	HNPCEpiC	eye:	n/a
6	chr1:71513114-71513164	IMR90	lung:	fetal
7	chr1:71513114-71513164	ECC-1	luminal epithelium:	n/a
8	chr1:71513114-71513164	AG04449	skin:	fetal
9	chr1:71513114-71513164	HUVEC	blood vessel:	n/a
10	chr1:71513114-71513164	SKMC	muscle:	n/a
11	chr1:71513114-71513164	Hela-S3	cervix:	n/a
12	chr1:71513114-71513164	H1-hESC	embryonic stem cell:	embryo
13	chr1:71513114-71513164	ProgFib	skin:	n/a
14	chr1:71513114-71513164	GM06990	blood:	n/a
15	chr1:71513114-71513164	HCM	heart:	n/a
16	chr1:71513114-71513164	GM19239	blood:	n/a
17	chr1:71513114-71513164	BE2_C	brain:	n/a
18	chr1:71513114-71513164	Jurkat	blood:	n/a
19	chr1:71513114-71513164	HIPEpiC	eye:	n/a
20	chr1:71513114-71513164	HRE	kidney:	n/a
21	chr1:71513114-71513164	SK-N-SH	brain:	n/a
22	chr1:71513114-71513164	HL-60	blood:	n/a
23	chr1:71513114-71513164	HCPEpiC	choroid plexus:	n/a
24	chr1:71513114-71513164	HCT-116	colon:	n/a
25	chr1:71513114-71513164	U87	brain:	n/a
26	chr1:71513114-71513164	HEK293	kidney:	embryo
27	chr1:71513114-71513164	LNCaP	prostate:	n/a
28	chr1:71513114-71513164	CMK	blood:	n/a
29	chr1:71513114-71513164	AG09309	skin:	n/a
30	chr1:71513114-71513164	NHDF-neo	bronchial:	n/a
31	chr1:71513114-71513164	RPTEC	kidney:	n/a
32	chr1:71513114-71513164	Caco-2	colon:	n/a
33	chr1:71513114-71513164	AG09319	gingival:	n/a
34	chr1:71513114-71513164	MCF-7	breast:	n/a
35	chr1:71513114-71513164	HEEpiC	esophagus:	n/a
36	chr1:71513114-71513164	GM12891	blood:	n/a
37	chr1:71513114-71513164	MCF10A-Er-Src	breast:	n/a
38	chr1:71513114-71513164	A549	lung:	n/a
39	chr1:71513114-71513164	NHBE	bronchial:	n/a
40	chr1:71513114-71513164	AG10803	skin:	n/a
41	chr1:71513114-71513164	NT2-D1	testis:	n/a
42	chr1:71513114-71513164	HepG2	liver:	n/a
43	chr1:71513114-71513164	SK-N-SH_RA	brain:	n/a
44	chr1:71513114-71513164	AoSMC	blood vessel:	n/a
45	chr1:71513114-71513164	Hepatocyte	liver:	n/a
46	chr1:71513114-71513164	NH-A	brain:	n/a
47	chr1:71513114-71513164	K562	blood:	n/a
48	chr1:71513114-71513164	PFSK-1	brain:	n/a
49	chr1:71513114-71513164	GM12878	blood:	n/a
50	chr1:71513114-71513164	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr1:71510894..71514340-chr1:71523075..71528309,6	K562	blood:
2	chr1:70994251..70996830-chr1:71512472..71514167,2	MCF-7	breast:
3	chr1:71511577..71513859-chr1:71544920..71548466,4	K562	blood:
4	chr1:70876526..70879847-chr1:71510519..71513789,3	K562	blood:

Variant related genes	Relation type
ZRANB2-AS1	TF binding region
ZRANB2-AS1	CpG island
ENSG00000116761	Chromatin interaction
ENSG00000235079	Chromatin interaction
ENSG00000229956	Chromatin interaction
ENSG00000132485	Chromatin interaction
ENSG00000233020	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs17090783	1.00[EUR][1000 genomes]
rs17090812	1.00[EUR][1000 genomes]
rs2790678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2790679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55645269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55819706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56341122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56351207	1.00[AMR][1000 genomes]
rs56901340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57083913	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58051959	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58742204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58917466	1.00[AMR][1000 genomes]
rs74087146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74087217	1.00[AMR][1000 genomes]
rs74087219	1.00[AMR][1000 genomes]
rs74087220	1.00[AMR][1000 genomes]
rs74087224	1.00[AMR][1000 genomes]
rs74089179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74089189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74089196	1.00[EUR][1000 genomes]
rs74090215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090230	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090258	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090260	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090263	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090271	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090283	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090292	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090908	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7537247	1.00[AMR][1000 genomes];1.00[EUR][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	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv546472	chr1:71432984-71541003	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	555 gene(s)	inside rSNPs	diseases
3	esv1850593	chr1:71444149-71514969	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv871242	chr1:71481050-71519326	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71510600-71513800	Active TSS	Aorta	Aorta
2	chr1:71510600-71514000	Active TSS	NHDF-Ad	bronchial
3	chr1:71510800-71514200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:71511000-71513600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
5	chr1:71511000-71514000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
6	chr1:71511000-71514200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:71511000-71514400	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr1:71511400-71513400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
9	chr1:71511400-71514200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:71512000-71513200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
11	chr1:71512000-71513200	Flanking Bivalent TSS/Enh	Placenta	Placenta
12	chr1:71512000-71513800	Flanking Active TSS	Right Ventricle	heart
13	chr1:71512000-71514000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:71512000-71514000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
15	chr1:71512000-71514000	Bivalent/Poised TSS	NHLF	lung
16	chr1:71512200-71513200	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:71512200-71513200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
18	chr1:71512200-71513200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
19	chr1:71512200-71513200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
20	chr1:71512200-71513600	Flanking Active TSS	Pancreas	Pancrea
21	chr1:71512200-71513800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
22	chr1:71512200-71513800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
23	chr1:71512200-71513800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
24	chr1:71512200-71513800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr1:71512200-71514000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
26	chr1:71512200-71514000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:71512200-71514000	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr1:71512200-71514000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
29	chr1:71512200-71514000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
30	chr1:71512400-71513200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:71512400-71513200	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
32	chr1:71512400-71513200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
33	chr1:71512400-71513200	Flanking Bivalent TSS/Enh	Left Ventricle	heart
34	chr1:71512400-71513200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
35	chr1:71512400-71513600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
36	chr1:71512400-71513600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:71512400-71513600	Flanking Active TSS	Lung	lung
38	chr1:71512400-71513800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr1:71512400-71513800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:71512400-71513800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr1:71512400-71514000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:71512400-71514000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:71512600-71513200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:71512600-71513200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
45	chr1:71512600-71513400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:71512600-71513400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
47	chr1:71512600-71513600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
48	chr1:71512600-71513600	Flanking Bivalent TSS/Enh	HMEC	breast
49	chr1:71512600-71513800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
50	chr1:71512600-71513800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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