Variant report

Variant	rs6927603
Chromosome Location	chr6:30541696-30541697
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr6:30541629-30541893	GM12878	blood:	n/a	chr6:30541814-30541825
2	POLR2A	chr6:30541212-30541817	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr6:30541623-30541810	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:30541662-30541701	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30541653-30541703	GM19239	blood:	n/a
2	chr6:30541653-30541703	AG04450	lung:	fetal
3	chr6:30541653-30541703	ovcar-3	ovarian:	n/a
4	chr6:30541653-30541703	AG09319	gingival:	n/a
5	chr6:30541653-30541703	AG04449	skin:	fetal
6	chr6:30541653-30541703	H1-hESC	embryonic stem cell:	embryo
7	chr6:30541653-30541703	K562	blood:	n/a
8	chr6:30541653-30541703	BJ	skin:	n/a
9	chr6:30541653-30541703	Hela-S3	cervix:	n/a
10	chr6:30541653-30541703	PrEC	prostate:	n/a
11	chr6:30541653-30541703	NT2-D1	testis:	n/a
12	chr6:30541653-30541703	HPAEpiC	pulmonary alveolar:	n/a
13	chr6:30541653-30541703	NB4	blood:	n/a
14	chr6:30541653-30541703	Hepatocyte	liver:	n/a
15	chr6:30541653-30541703	NH-A	brain:	n/a
16	chr6:30541653-30541703	HCT-116	colon:	n/a
17	chr6:30541653-30541703	HAEpiC	amniotic membrane:	n/a
18	chr6:30541653-30541703	HepG2	liver:	n/a
19	chr6:30541653-30541703	HRPEpiC	eye:	n/a
20	chr6:30541653-30541703	AG09309	skin:	n/a
21	chr6:30541653-30541703	Caco-2	colon:	n/a
22	chr6:30541653-30541703	HRCEpiC	kidney:	n/a
23	chr6:30541653-30541703	LNCaP	prostate:	n/a
24	chr6:30541653-30541703	HMEC	breast:	n/a
25	chr6:30541653-30541703	MCF10A-Er-Src	breast:	n/a
26	chr6:30541653-30541703	SAEC	small airway:	n/a
27	chr6:30541653-30541703	AG10803	skin:	n/a
28	chr6:30541653-30541703	HUVEC	blood vessel:	n/a
29	chr6:30541653-30541703	GM12892	blood:	n/a
30	chr6:30541653-30541703	NHBE	bronchial:	n/a
31	chr6:30541653-30541703	PFSK-1	brain:	n/a
32	chr6:30541653-30541703	HCPEpiC	choroid plexus:	n/a
33	chr6:30541653-30541703	CMK	blood:	n/a
34	chr6:30541653-30541703	BE2_C	brain:	n/a
35	chr6:30541653-30541703	HEK293	kidney:	embryo
36	chr6:30541653-30541703	U87	brain:	n/a
37	chr6:30541653-30541703	NHDF-neo	bronchial:	n/a
38	chr6:30541653-30541703	RPTEC	kidney:	n/a
39	chr6:30541653-30541703	T-47D	breast:	n/a
40	chr6:30541653-30541703	HEEpiC	esophagus:	n/a
41	chr6:30541653-30541703	GM12878	blood:	n/a
42	chr6:30541653-30541703	PANC-1	pancreas:	n/a
43	chr6:30541653-30541703	Jurkat	blood:	n/a
44	chr6:30541653-30541703	HCM	heart:	n/a
45	chr6:30541653-30541703	A549	lung:	n/a
46	chr6:30541653-30541703	SK-N-SH	brain:	n/a
47	chr6:30541653-30541703	ProgFib	skin:	n/a
48	chr6:30541653-30541703	ECC-1	luminal epithelium:	n/a
49	chr6:30541653-30541703	HNPCEpiC	eye:	n/a
50	chr6:30541653-30541703	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30455964..30458149-chr6:30539664..30541903,3	MCF-7	breast:
2	chr6:30482719..30486624-chr6:30535507..30541696,8	K562	blood:

No data

Variant related genes	Relation type
ABCF1	TF binding region
ABCF1	CpG island
ENSG00000204592	Chromatin interaction
ENSG00000235781	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11548296	1.00[ASN][1000 genomes]
rs57529939	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58980373	1.00[ASN][1000 genomes]
rs60716469	1.00[ASN][1000 genomes]
rs60791005	1.00[ASN][1000 genomes]
rs61356961	1.00[ASN][1000 genomes]
rs61414974	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6927597	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73431018	1.00[ASN][1000 genomes]
rs73431081	1.00[ASN][1000 genomes]
rs73433105	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433115	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433122	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73433127	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73433141	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73433149	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7751766	1.00[EUR][1000 genomes]
rs7754598	1.00[ASN][1000 genomes]
rs7757145	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv884091	chr6:30526026-30590646	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	776 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30540000-30541800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr6:30540000-30541800	Flanking Active TSS	GM12878-XiMat	blood
3	chr6:30540000-30541800	Transcr. at gene 5' and 3'	K562	blood
4	chr6:30540000-30542000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:30540000-30544400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:30540000-30544400	Weak transcription	Ovary	ovary
7	chr6:30540000-30545400	Weak transcription	Aorta	Aorta
8	chr6:30540200-30542200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:30540200-30542200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr6:30540200-30542200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:30540200-30542200	Enhancers	Right Atrium	heart
12	chr6:30540200-30542400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr6:30540200-30542600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr6:30540200-30542600	Enhancers	Liver	Liver
15	chr6:30540200-30542800	Enhancers	Stomach Mucosa	stomach
16	chr6:30540200-30543200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:30540200-30543600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:30540200-30543600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr6:30540200-30544600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:30540200-30544600	Weak transcription	Fetal Kidney	kidney
21	chr6:30540200-30582200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:30540200-30582200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:30540400-30541800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:30540400-30541800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr6:30540400-30541800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr6:30540400-30541800	Enhancers	HUVEC	blood vessel
27	chr6:30540400-30542000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:30540400-30542000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:30540400-30542000	Enhancers	NH-A	brain
30	chr6:30540400-30542000	Enhancers	NHDF-Ad	bronchial
31	chr6:30540400-30542400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:30540400-30542400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:30540400-30542400	Enhancers	Adipose Nuclei	Adipose
34	chr6:30540400-30542400	Enhancers	Brain Germinal Matrix	brain
35	chr6:30540400-30542600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:30540400-30542600	Enhancers	Colon Smooth Muscle	Colon
37	chr6:30540400-30542800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr6:30540400-30543200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:30540400-30543200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr6:30540400-30543400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:30540400-30543600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr6:30540400-30543800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:30540400-30544400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:30540400-30544400	Weak transcription	HSMMtube	muscle
45	chr6:30540400-30563000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:30540600-30542200	Genic enhancers	NHEK	skin
47	chr6:30540600-30543600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:30540800-30542000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:30540800-30542200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr6:30540800-30542400	Enhancers	Duodenum Mucosa	Duodenum

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