Variant report

Variant	rs5668
Chromosome Location	chr1:71513289-71513290
allele	C/T
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	PML	chr1:71513253-71513718	K562	blood:	n/a	n/a
4	TAL1	chr1:71513006-71513582	K562	blood:	n/a	n/a
5	POLR2A	chr1:71512040-71513854	K562	blood:	n/a	n/a
6	MAX	chr1:71512732-71513736	ECC-1	luminal epithelium:	n/a	chr1:71513532-71513542
7	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
8	E2F6	chr1:71512127-71513689	K562	blood:	n/a	chr1:71513534-71513543 chr1:71512854-71512869 chr1:71513390-71513400 chr1:71513430-71513440
9	SIN3AK20	chr1:71513230-71513709	K562	blood:	n/a	n/a
10	HA-E2F1	chr1:71512736-71513884	MCF-7	breast:	n/a	chr1:71513534-71513543 chr1:71513390-71513400 chr1:71513430-71513440
11	MYC	chr1:71512553-71513293	MCF-7	breast:	n/a	n/a
12	POLR2A	chr1:71513235-71513666	K562	blood:	n/a	n/a
13	POLR2A	chr1:71513167-71513622	ProgFib	skin:	n/a	n/a
14	MYC	chr1:71512002-71513714	K562	blood:	n/a	chr1:71513532-71513542
15	RCOR1	chr1:71513197-71513612	K562	blood:	n/a	n/a
16	TBL1XR1	chr1:71512827-71513663	K562	blood:	n/a	n/a
17	POLR2A	chr1:71512926-71514768	HepG2	liver:	n/a	n/a
18	CTBP2	chr1:71512452-71513720	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr1:71512961-71513291	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:71512955-71513297	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr1:71513275-71513657	SK-N-SH	brain:	n/a	n/a
22	MYC	chr1:71511963-71513739	K562	blood:	n/a	chr1:71513532-71513542
23	REST	chr1:71513143-71513607	K562	blood:	n/a	chr1:71513498-71513511 chr1:71513412-71513425 chr1:71513371-71513384
24	CHD2	chr1:71512726-71513833	K562	blood:	n/a	chr1:71513535-71513545
25	POLR2A	chr1:71512914-71513686	MCF-7	breast:	n/a	n/a
26	ZNF143	chr1:71513200-71513706	K562	blood:	n/a	chr1:71513325-71513335
27	MAX	chr1:71512659-71513320	SK-N-SH	brain:	n/a	n/a
28	ZNF384	chr1:71512933-71513507	K562	blood:	n/a	n/a
29	POLR2A	chr1:71512693-71513812	K562	blood:	n/a	n/a
30	POLR2A	chr1:71513194-71514116	SK-N-MC	brain:	n/a	n/a
31	MAX	chr1:71512702-71513299	H1-hESC	embryonic stem cell:	n/a	n/a
32	NANOG	chr1:71513214-71513522	H1-hESC	embryonic stem cell:	n/a	n/a
33	IRF1	chr1:71513280-71513640	K562	blood:	n/a	chr1:71513533-71513547
34	POLR2A	chr1:71511962-71513787	K562	blood:	n/a	n/a
35	POLR2A	chr1:71512566-71513844	MCF-7	breast:	n/a	n/a
36	RCOR1	chr1:71512005-71513897	K562	blood:	n/a	n/a
37	UBTF	chr1:71511986-71513751	K562	blood:	n/a	n/a
38	IRF1	chr1:71513277-71513665	K562	blood:	n/a	chr1:71513533-71513547
39	TAF1	chr1:71513242-71513716	K562	blood:	n/a	n/a
40	CCNT2	chr1:71511971-71513807	K562	blood:	n/a	chr1:71513534-71513543 chr1:71512342-71512351
41	TBL1XR1	chr1:71513094-71513645	K562	blood:	n/a	n/a
42	HEY1	chr1:71513194-71513692	K562	blood:	n/a	chr1:71513326-71513341 chr1:71513320-71513335 chr1:71513421-71513436 chr1:71513385-71513400
43	CBX3	chr1:71512656-71513704	K562	blood:	n/a	n/a
44	HCFC1	chr1:71512856-71513991	K562	blood:	n/a	n/a
45	SIN3A	chr1:71512901-71513674	H1-hESC	embryonic stem cell:	n/a	n/a
46	TBP	chr1:71511997-71513975	K562	blood:	n/a	n/a
47	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
48	UBTF	chr1:71512011-71513650	K562	blood:	n/a	n/a
49	POLR2A	chr1:71511957-71513949	K562	blood:	n/a	n/a
50	POLR2A	chr1:71510621-71513837	K562	blood:	n/a	n/a

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
PTGER3	TF binding region
ZRANB2-AS1	TF binding region
ENSG00000229956	Chromatin interaction
ENSG00000132485	Chromatin interaction
ENSG00000116761	Chromatin interaction
ENSG00000235079	Chromatin interaction
ENSG00000233020	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6662043	0.90[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	chr1:71512000-71513800	Flanking Active TSS	Right Ventricle	heart
11	chr1:71512000-71514000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:71512000-71514000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr1:71512000-71514000	Bivalent/Poised TSS	NHLF	lung
14	chr1:71512200-71513600	Flanking Active TSS	Pancreas	Pancrea
15	chr1:71512200-71513800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr1:71512200-71513800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
17	chr1:71512200-71513800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
18	chr1:71512200-71513800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
19	chr1:71512200-71514000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
20	chr1:71512200-71514000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:71512200-71514000	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr1:71512200-71514000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
23	chr1:71512200-71514000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
24	chr1:71512400-71513600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
25	chr1:71512400-71513600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:71512400-71513600	Flanking Active TSS	Lung	lung
27	chr1:71512400-71513800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr1:71512400-71513800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:71512400-71513800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr1:71512400-71514000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:71512400-71514000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:71512600-71513400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:71512600-71513400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
34	chr1:71512600-71513600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
35	chr1:71512600-71513600	Flanking Bivalent TSS/Enh	HMEC	breast
36	chr1:71512600-71513800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
37	chr1:71512600-71513800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr1:71512600-71513800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:71512600-71513800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:71512600-71513800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:71512600-71513800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr1:71512600-71513800	Bivalent/Poised TSS	A549	lung
43	chr1:71512600-71513800	Bivalent/Poised TSS	Osteobl	bone
44	chr1:71512600-71514000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:71512600-71514000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:71512600-71514000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
47	chr1:71512600-71514000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:71512600-71514000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
49	chr1:71512600-71514000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
50	chr1:71512600-71514000	Bivalent/Poised TSS	Brain Substantia Nigra	brain

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