Variant report

Variant	rs7699619
Chromosome Location	chr4:7054011-7054012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:7052822-7054305	K562	blood:	n/a	n/a
2	POLR2A	chr4:7053710-7056312	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:7053991-7054041	Hela-S3	cervix:	n/a
2	chr4:7053991-7054041	HNPCEpiC	eye:	n/a
3	chr4:7053991-7054041	AG10803	skin:	n/a
4	chr4:7053991-7054041	MCF-7	breast:	n/a
5	chr4:7053991-7054041	NT2-D1	testis:	n/a
6	chr4:7053991-7054041	IMR90	lung:	fetal
7	chr4:7053991-7054041	GM12878	blood:	n/a
8	chr4:7053991-7054041	Hepatocyte	liver:	n/a
9	chr4:7053991-7054041	T-47D	breast:	n/a
10	chr4:7053991-7054041	GM12891	blood:	n/a
11	chr4:7053991-7054041	HCPEpiC	choroid plexus:	n/a
12	chr4:7053991-7054041	ovcar-3	ovarian:	n/a
13	chr4:7053991-7054041	HepG2	liver:	n/a
14	chr4:7053991-7054041	GM19239	blood:	n/a
15	chr4:7053991-7054041	BE2_C	brain:	n/a
16	chr4:7053991-7054041	SAEC	small airway:	n/a
17	chr4:7053991-7054041	HIPEpiC	eye:	n/a
18	chr4:7053991-7054041	HCM	heart:	n/a
19	chr4:7053991-7054041	SK-N-MC	brain:	n/a
20	chr4:7053991-7054041	NHDF-neo	bronchial:	n/a
21	chr4:7053991-7054041	ECC-1	luminal epithelium:	n/a
22	chr4:7053991-7054041	GM12892	blood:	n/a
23	chr4:7053991-7054041	NHBE	bronchial:	n/a
24	chr4:7053991-7054041	BJ	skin:	n/a
25	chr4:7053991-7054041	HRPEpiC	eye:	n/a
26	chr4:7053991-7054041	Caco-2	colon:	n/a
27	chr4:7053991-7054041	SKMC	muscle:	n/a
28	chr4:7053991-7054041	PrEC	prostate:	n/a
29	chr4:7053991-7054041	SK-N-SH	brain:	n/a
30	chr4:7053991-7054041	CMK	blood:	n/a
31	chr4:7053991-7054041	SK-N-SH_RA	brain:	n/a
32	chr4:7053991-7054041	HEK293	kidney:	embryo
33	chr4:7053991-7054041	AoSMC	blood vessel:	n/a
34	chr4:7053991-7054041	HUVEC	blood vessel:	n/a
35	chr4:7053991-7054041	NH-A	brain:	n/a
36	chr4:7053991-7054041	HMEC	breast:	n/a
37	chr4:7053991-7054041	HPAEpiC	pulmonary alveolar:	n/a
38	chr4:7053991-7054041	HL-60	blood:	n/a
39	chr4:7053991-7054041	LNCaP	prostate:	n/a
40	chr4:7053991-7054041	AG04449	skin:	fetal
41	chr4:7053991-7054041	RPTEC	kidney:	n/a
42	chr4:7053991-7054041	HAEpiC	amniotic membrane:	n/a
43	chr4:7053991-7054041	ProgFib	skin:	n/a
44	chr4:7053991-7054041	A549	lung:	n/a
45	chr4:7053991-7054041	U87	brain:	n/a
46	chr4:7053991-7054041	AG09319	gingival:	n/a
47	chr4:7053991-7054041	GM06990	blood:	n/a
48	chr4:7053991-7054041	K562	blood:	n/a
49	chr4:7053991-7054041	H1-hESC	embryonic stem cell:	embryo
50	chr4:7053991-7054041	PANC-1	pancreas:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7052540..7054549-chr4:7068583..7070696,2	MCF-7	breast:
2	chr4:7047952..7049903-chr4:7053524..7056109,2	MCF-7	breast:
3	chr4:6987851..6990703-chr4:7053695..7056080,2	MCF-7	breast:
4	chr4:7052919..7061052-chr4:7065851..7072132,10	MCF-7	breast:
5	chr4:6906905..6908997-chr4:7051562..7054124,2	MCF-7	breast:

No data

Variant related genes	Relation type
TADA2B	TF binding region
TADA2B	CpG island
ENSG00000132405	Chromatin interaction
ENSG00000109519	Chromatin interaction
ENSG00000245748	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10012093	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10937781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13113578	1.00[EUR][1000 genomes]
rs3951347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4513569	1.00[EUR][1000 genomes]
rs4689062	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4689063	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4689582	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4689588	1.00[EUR][1000 genomes]
rs62291193	0.85[EUR][1000 genomes]
rs62291194	0.85[EUR][1000 genomes]
rs62291195	0.85[EUR][1000 genomes]
rs62291196	0.85[EUR][1000 genomes]
rs6814746	1.00[EUR][1000 genomes]
rs6832413	0.90[EUR][1000 genomes]
rs6841824	0.90[EUR][1000 genomes]
rs6849547	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7666504	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs871133	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs907522	1.00[EUR][1000 genomes]
rs907524	1.00[EUR][1000 genomes]
rs907525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9985704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv878532	chr4:7010504-7055603	Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv878533	chr4:7032180-7063524	Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv4217	chr4:7035512-7080230	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr4:7046200-7068600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7046600-7055600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:7046600-7055600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:7046600-7055800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:7046600-7062600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:7046800-7062000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:7047000-7056000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:7047000-7056200	Weak transcription	HUVEC	blood vessel
9	chr4:7047000-7057400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:7047000-7059600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:7047000-7061200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:7047200-7055600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:7047200-7056200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:7047200-7059600	Weak transcription	NH-A	brain
15	chr4:7047400-7059200	Strong transcription	Fetal Intestine Small	intestine
16	chr4:7047400-7062400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:7047600-7056400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:7047800-7055600	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr4:7047800-7056000	Weak transcription	Osteobl	bone
20	chr4:7047800-7062200	Weak transcription	Hela-S3	cervix
21	chr4:7048000-7054200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:7048000-7054400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr4:7048000-7057000	Weak transcription	HMEC	breast
24	chr4:7048000-7062800	Weak transcription	Fetal Kidney	kidney
25	chr4:7048400-7055800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:7048600-7055000	Weak transcription	Fetal Lung	lung
27	chr4:7048600-7055800	Weak transcription	Aorta	Aorta
28	chr4:7048600-7061400	Weak transcription	Small Intestine	intestine
29	chr4:7048600-7062600	Weak transcription	Fetal Brain Male	brain
30	chr4:7048800-7054600	Strong transcription	Fetal Stomach	stomach
31	chr4:7048800-7055400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:7048800-7055800	Weak transcription	HepG2	liver
33	chr4:7048800-7056000	Weak transcription	NHDF-Ad	bronchial
34	chr4:7049000-7054600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr4:7049000-7055400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr4:7049000-7060400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr4:7049200-7054400	Weak transcription	HSMMtube	muscle
38	chr4:7049400-7055200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr4:7049400-7061400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:7049600-7055400	Weak transcription	GM12878-XiMat	blood
41	chr4:7049800-7054200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:7049800-7055400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
43	chr4:7049800-7060600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:7049800-7066800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:7050000-7056400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:7050200-7058600	Strong transcription	Fetal Intestine Large	intestine
47	chr4:7050400-7055000	Enhancers	Fetal Heart	heart
48	chr4:7050400-7055600	Enhancers	Left Ventricle	heart
49	chr4:7050400-7056200	Genic enhancers	Lung	lung
50	chr4:7050600-7054800	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links