Variant report

Variant	rs557511888
Chromosome Location	chr4:79696580-79696581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:218)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:218 , 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	MXI1	chr4:79695648-79698681	IMR90	lung:	n/a	n/a
2	POLR2A	chr4:79695584-79697705	K562	blood:	n/a	n/a
3	USF2	chr4:79696379-79697277	Hela-S3	cervix:	n/a	chr4:79697101-79697112
4	POLR2A	chr4:79695712-79698833	K562	blood:	n/a	n/a
5	POLR2A	chr4:79696418-79697732	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr4:79696503-79697734	HCT-116	colon:	n/a	n/a
7	MAX	chr4:79696366-79697766	A549	lung:	n/a	chr4:79697385-79697395
8	MYC	chr4:79695591-79698574	K562	blood:	n/a	chr4:79697385-79697395 chr4:79698179-79698188
9	POLR2A	chr4:79696412-79697683	ECC-1	luminal epithelium:	n/a	n/a
10	TBP	chr4:79696121-79697135	Hela-S3	cervix:	n/a	n/a
11	TAF1	chr4:79696429-79697734	H1-hESC	embryonic stem cell:	n/a	n/a
12	RELA	chr4:79695491-79697309	GM19099	blood:	n/a	chr4:79695717-79695726 chr4:79695717-79695726
13	TEAD4	chr4:79696442-79697153	K562	blood:	n/a	n/a
14	MAX	chr4:79696456-79697931	HepG2	liver:	n/a	chr4:79697385-79697395
15	POLR2A	chr4:79695600-79704800	PBDE	blood:	n/a	n/a
16	MAX	chr4:79696389-79697807	HCT-116	colon:	n/a	chr4:79697385-79697395
17	POLR2A	chr4:79696144-79698368	GM15510	blood:	n/a	n/a
18	TBP	chr4:79696443-79698343	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr4:79696044-79699275	MCF10A-Er-Src	breast:	n/a	n/a
20	ZMIZ1	chr4:79696451-79697703	K562	blood:	n/a	n/a
21	GTF2B	chr4:79696505-79697004	K562	blood:	n/a	n/a
22	RAD21	chr4:79696148-79696903	Hela-S3	cervix:	n/a	n/a
23	CREB1	chr4:79696466-79697748	HepG2	liver:	n/a	n/a
24	MYC	chr4:79696324-79697719	K562	blood:	n/a	chr4:79697385-79697395
25	POLR2A	chr4:79696569-79697723	HCT-116	colon:	n/a	n/a
26	CREB1	chr4:79696550-79697705	GM12878	blood:	n/a	n/a
27	POLR2A	chr4:79696571-79697848	A549	lung:	n/a	n/a
28	POLR2A	chr4:79696396-79698547	HUVEC	blood vessel:	n/a	n/a
29	CREB1	chr4:79696500-79697364	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr4:79696066-79697822	K562	blood:	n/a	n/a
31	MYC	chr4:79696525-79697643	MCF10A-Er-Src	breast:	n/a	chr4:79697385-79697395
32	ATF2	chr4:79696278-79697078	GM12878	blood:	n/a	n/a
33	E2F6	chr4:79696575-79697700	K562	blood:	n/a	chr4:79697527-79697536 chr4:79696890-79696907 chr4:79697134-79697143 chr4:79697149-79697158
34	WRNIP1	chr4:79696475-79697107	GM12878	blood:	n/a	n/a
35	UBTF	chr4:79696176-79698607	K562	blood:	n/a	n/a
36	POLR2A	chr4:79696363-79697659	HepG2	liver:	n/a	n/a
37	POLR2A	chr4:79696170-79698447	GM18526	blood:	n/a	n/a
38	POLR2A	chr4:79696553-79697783	GM12878	blood:	n/a	n/a
39	RFX5	chr4:79696381-79696675	K562	blood:	n/a	n/a
40	MAX	chr4:79696484-79697422	H1-hESC	embryonic stem cell:	n/a	chr4:79697385-79697395
41	POLR2A	chr4:79696307-79697788	HL-60	blood:	n/a	n/a
42	RAD21	chr4:79696383-79697692	IMR90	lung:	n/a	n/a
43	CHD1	chr4:79696188-79697060	H1-hESC	embryonic stem cell:	n/a	n/a
44	BHLHE40	chr4:79696276-79697722	GM12878	blood:	n/a	chr4:79697495-79697511 chr4:79697622-79697638 chr4:79697630-79697646
45	POLR2A	chr4:79696307-79697862	GM12892	blood:	n/a	n/a
46	HCFC1	chr4:79696157-79697615	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr4:79696442-79697745	HCT-116	colon:	n/a	n/a
48	POLR2A	chr4:79695814-79698408	GM18505	blood:	n/a	n/a
49	POLR2A	chr4:79696509-79697833	HUVEC	blood vessel:	n/a	n/a
50	MAX	chr4:79696462-79697738	ECC-1	luminal epithelium:	n/a	chr4:79697385-79697395

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:79696555-79696605	NT2-D1	testis:	n/a
2	chr4:79696555-79696605	NB4	blood:	n/a
3	chr4:79696555-79696605	SK-N-MC	brain:	n/a
4	chr4:79696555-79696605	AG10803	skin:	n/a
5	chr4:79696555-79696605	MCF-7	breast:	n/a
6	chr4:79696555-79696605	PrEC	prostate:	n/a
7	chr4:79696555-79696605	GM12891	blood:	n/a
8	chr4:79696555-79696605	HL-60	blood:	n/a
9	chr4:79696555-79696605	BJ	skin:	n/a
10	chr4:79696555-79696605	RPTEC	kidney:	n/a
11	chr4:79696555-79696605	HMEC	breast:	n/a
12	chr4:79696555-79696605	NHDF-neo	bronchial:	n/a
13	chr4:79696555-79696605	NHBE	bronchial:	n/a
14	chr4:79696555-79696605	HAEpiC	amniotic membrane:	n/a
15	chr4:79696555-79696605	Hepatocyte	liver:	n/a
16	chr4:79696555-79696605	HNPCEpiC	eye:	n/a
17	chr4:79696555-79696605	Caco-2	colon:	n/a
18	chr4:79696555-79696605	GM19239	blood:	n/a
19	chr4:79696555-79696605	Hela-S3	cervix:	n/a
20	chr4:79696555-79696605	NH-A	brain:	n/a
21	chr4:79696555-79696605	A549	lung:	n/a
22	chr4:79696555-79696605	AG09319	gingival:	n/a
23	chr4:79696555-79696605	AG04450	lung:	fetal
24	chr4:79696555-79696605	HEK293	kidney:	embryo
25	chr4:79696555-79696605	AG09309	skin:	n/a
26	chr4:79696555-79696605	T-47D	breast:	n/a
27	chr4:79696555-79696605	U87	brain:	n/a
28	chr4:79696555-79696605	ovcar-3	ovarian:	n/a
29	chr4:79696555-79696605	HIPEpiC	eye:	n/a
30	chr4:79696555-79696605	AoSMC	blood vessel:	n/a
31	chr4:79696555-79696605	MCF10A-Er-Src	breast:	n/a
32	chr4:79696555-79696605	CMK	blood:	n/a
33	chr4:79696555-79696605	K562	blood:	n/a
34	chr4:79696555-79696605	HUVEC	blood vessel:	n/a
35	chr4:79696555-79696605	HCPEpiC	choroid plexus:	n/a
36	chr4:79696555-79696605	SK-N-SH	brain:	n/a
37	chr4:79696555-79696605	IMR90	lung:	fetal
38	chr4:79696555-79696605	PFSK-1	brain:	n/a
39	chr4:79696555-79696605	PANC-1	pancreas:	n/a
40	chr4:79696555-79696605	HCF	heart:	n/a
41	chr4:79696555-79696605	HCT-116	colon:	n/a
42	chr4:79696555-79696605	SK-N-SH_RA	brain:	n/a
43	chr4:79696555-79696605	Jurkat	blood:	n/a
44	chr4:79696555-79696605	HRPEpiC	eye:	n/a
45	chr4:79696555-79696605	HRE	kidney:	n/a
46	chr4:79696555-79696605	LNCaP	prostate:	n/a
47	chr4:79696555-79696605	HepG2	liver:	n/a
48	chr4:79696555-79696605	GM12878	blood:	n/a
49	chr4:79696555-79696605	GM06990	blood:	n/a
50	chr4:79696555-79696605	ProgFib	skin:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79564080..79567985-chr4:79696414..79698633,7	MCF-7	breast:
2	chr4:79522884..79525832-chr4:79695803..79698616,2	K562	blood:
3	chr4:79570295..79572982-chr4:79695014..79699413,6	MCF-7	breast:
4	chr4:79565619..79566154-chr4:79696280..79696883,2	MCF-7	breast:
5	chr4:79562196..79569044-chr4:79695847..79699797,11	MCF-7	breast:
6	chr4:79696515..79698358-chr4:79778442..79780983,2	K562	blood:
7	chr4:79686100..79693924-chr4:79694940..79698947,11	MCF-7	breast:
8	chr4:79568346..79573757-chr4:79695931..79699478,7	MCF-7	breast:
9	chr4:79565693..79569294-chr4:79696000..79698136,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAQR3-1	chr4:79694808-79697127	ENSG00000260278.1

No data

Variant related genes	Relation type
BMP2K	TF binding region
BMP2K	CpG island
ENSG00000251442	Chromatin interaction
ENSG00000251019	Chromatin interaction
ENSG00000239793	Chromatin interaction
ENSG00000138756	Chromatin interaction
ENSG00000138772	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv1803379	chr4:79661618-79704210	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1792021	chr4:79661618-79784245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	esv3358831	chr4:79696153-79699301	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3368249	chr4:79696578-79699076	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79695800-79698200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:79695800-79698800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr4:79696000-79696600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:79696000-79696600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:79696000-79696600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr4:79696000-79696600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:79696000-79696600	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr4:79696000-79696600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr4:79696000-79696600	Flanking Active TSS	NHLF	lung
10	chr4:79696000-79696800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr4:79696000-79696800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr4:79696000-79697000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr4:79696000-79697000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:79696000-79697200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:79696000-79698000	Active TSS	Stomach Smooth Muscle	stomach
16	chr4:79696000-79698400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:79696000-79698800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:79696000-79699000	Active TSS	Hela-S3	cervix
19	chr4:79696000-79699600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:79696000-79699800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:79696200-79696600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr4:79696200-79696600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:79696200-79696600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:79696200-79696600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr4:79696200-79696600	Flanking Active TSS	Liver	Liver
26	chr4:79696200-79696600	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr4:79696200-79696600	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr4:79696200-79696600	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr4:79696200-79696600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr4:79696200-79696600	Flanking Active TSS	Fetal Brain Female	brain
31	chr4:79696200-79696600	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr4:79696200-79696600	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr4:79696200-79696600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
34	chr4:79696200-79696600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr4:79696200-79696600	Flanking Active TSS	HSMMtube	muscle
36	chr4:79696200-79696600	Flanking Active TSS	NH-A	brain
37	chr4:79696200-79696600	Flanking Active TSS	NHEK	skin
38	chr4:79696200-79696600	Flanking Active TSS	Osteobl	bone
39	chr4:79696200-79696800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr4:79696200-79696800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr4:79696200-79696800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr4:79696200-79696800	Active TSS	Brain Germinal Matrix	brain
43	chr4:79696200-79696800	Flanking Active TSS	Fetal Thymus	thymus
44	chr4:79696200-79696800	Active TSS	Right Atrium	heart
45	chr4:79696200-79696800	Flanking Active TSS	Dnd41	blood
46	chr4:79696200-79696800	Flanking Active TSS	HMEC	breast
47	chr4:79696200-79697000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr4:79696200-79697000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr4:79696200-79697000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr4:79696200-79697000	ZNF genes & repeats	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links