Variant report

Variant	rs565152866
Chromosome Location	chr6:30431722-30431723
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr6:30431245-30431788	HL-60	blood:	n/a	n/a
2	CTCF	chr6:30431580-30431730	RPTEC	kidney:	n/a	chr6:30431623-30431636
3	POLR2A	chr6:30431171-30431876	HL-60	blood:	n/a	n/a
4	CTCF	chr6:30431640-30431790	BJ	skin:	n/a	n/a
5	RUNX3	chr6:30431074-30431810	GM12878	blood:	n/a	chr6:30431511-30431520 chr6:30431511-30431526 chr6:30431511-30431520
6	ELF1	chr6:30431509-30432055	GM12878	blood:	n/a	n/a
7	GABPA	chr6:30431315-30431889	HL-60	blood:	n/a	n/a
8	SPI1	chr6:30431294-30431849	HL-60	blood:	n/a	n/a
9	CTCF	chr6:30431640-30431790	RPTEC	kidney:	n/a	n/a
10	CTCF	chr6:30431620-30431770	BJ	skin:	n/a	chr6:30431623-30431636
11	CTCF	chr6:30431580-30431730	GM12873	blood:	n/a	chr6:30431623-30431636
12	RUNX3	chr6:30431045-30431736	GM12878	blood:	n/a	chr6:30431511-30431520 chr6:30431511-30431526 chr6:30431511-30431520
13	POLR2A	chr6:30431183-30431865	HL-60	blood:	n/a	n/a
14	UBTF	chr6:30431676-30431813	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30431699-30431749	GM06990	blood:	n/a
2	chr6:30431704-30431754	HCF	heart:	n/a
3	chr6:30431704-30431754	U87	brain:	n/a
4	chr6:30431699-30431749	Caco-2	colon:	n/a
5	chr6:30431704-30431754	SK-N-SH	brain:	n/a
6	chr6:30431699-30431749	IMR90	lung:	fetal
7	chr6:30431699-30431749	SK-N-MC	brain:	n/a
8	chr6:30431699-30431749	Hela-S3	cervix:	n/a
9	chr6:30431699-30431749	HNPCEpiC	eye:	n/a
10	chr6:30431699-30431749	RPTEC	kidney:	n/a
11	chr6:30431704-30431754	GM06990	blood:	n/a
12	chr6:30431699-30431749	HRE	kidney:	n/a
13	chr6:30431699-30431749	SKMC	muscle:	n/a
14	chr6:30431704-30431754	HUVEC	blood vessel:	n/a
15	chr6:30431699-30431749	GM12892	blood:	n/a
16	chr6:30431704-30431754	HepG2	liver:	n/a
17	chr6:30431704-30431754	CMK	blood:	n/a
18	chr6:30431704-30431754	NT2-D1	testis:	n/a
19	chr6:30431704-30431754	T-47D	breast:	n/a
20	chr6:30431699-30431749	HRPEpiC	eye:	n/a
21	chr6:30431704-30431754	SK-N-MC	brain:	n/a
22	chr6:30431704-30431754	LNCaP	prostate:	n/a
23	chr6:30431699-30431749	HCM	heart:	n/a
24	chr6:30431699-30431749	HCT-116	colon:	n/a
25	chr6:30431699-30431749	A549	lung:	n/a
26	chr6:30431699-30431749	PANC-1	pancreas:	n/a
27	chr6:30431699-30431749	HMEC	breast:	n/a
28	chr6:30431699-30431749	PFSK-1	brain:	n/a
29	chr6:30431704-30431754	NHBE	bronchial:	n/a
30	chr6:30431699-30431749	MCF10A-Er-Src	breast:	n/a
31	chr6:30431704-30431754	AG09319	gingival:	n/a
32	chr6:30431699-30431749	AG10803	skin:	n/a
33	chr6:30431704-30431754	Jurkat	blood:	n/a
34	chr6:30431704-30431754	HCT-116	colon:	n/a
35	chr6:30431704-30431754	HAEpiC	amniotic membrane:	n/a
36	chr6:30431704-30431754	RPTEC	kidney:	n/a
37	chr6:30431704-30431754	SAEC	small airway:	n/a
38	chr6:30431704-30431754	PrEC	prostate:	n/a
39	chr6:30431699-30431749	GM12891	blood:	n/a
40	chr6:30431699-30431749	AoSMC	blood vessel:	n/a
41	chr6:30431699-30431749	NH-A	brain:	n/a
42	chr6:30431699-30431749	K562	blood:	n/a
43	chr6:30431704-30431754	AG04449	skin:	fetal
44	chr6:30431699-30431749	HUVEC	blood vessel:	n/a
45	chr6:30431704-30431754	GM12892	blood:	n/a
46	chr6:30431699-30431749	HepG2	liver:	n/a
47	chr6:30431704-30431754	A549	lung:	n/a
48	chr6:30431699-30431749	HCF	heart:	n/a
49	chr6:30431704-30431754	HCM	heart:	n/a
50	chr6:30431704-30431754	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:30418502..30422305-chr6:30429667..30432220,3	MCF-7	breast:
2	chr6:30431634..30434565-chr6:30582972..30585070,2	K562	blood:
3	chr6:30430770..30433095-chr6:30579406..30582231,2	K562	blood:
4	chr6:30431634..30435485-chr6:30582972..30586314,3	K562	blood:
5	chr6:30431267..30434167-chr6:30612886..30615610,2	MCF-7	breast:

No data

Variant related genes	Relation type
SUCLA2P1	TF binding region
TMPOP1	TF binding region
SUCLA2P1	CpG island
TMPOP1	CpG island
ENSG00000204564	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204568	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv601478	chr6:30383768-30438226	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3336846	chr6:30420111-30432946	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	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
7	nsv884065	chr6:30430520-30446055	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv884066	chr6:30430875-30440732	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv884067	chr6:30430875-30446055	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv884068	chr6:30430875-30447987	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv884069	chr6:30430875-30451474	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
12	nsv884070	chr6:30430875-30472772	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30429800-30434200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:30430800-30432400	Bivalent Enhancer	Fetal Thymus	thymus
3	chr6:30431000-30432000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
4	chr6:30431000-30432000	Bivalent Enhancer	Dnd41	blood
5	chr6:30431000-30432000	Bivalent Enhancer	GM12878-XiMat	blood
6	chr6:30431000-30432000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
7	chr6:30431000-30432200	Enhancers	Gastric	stomach
8	chr6:30431000-30432400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
9	chr6:30431000-30432400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
10	chr6:30431000-30432400	Bivalent Enhancer	Colon Smooth Muscle	Colon
11	chr6:30431000-30432400	Enhancers	Pancreas	Pancrea
12	chr6:30431000-30432400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
13	chr6:30431000-30432600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
14	chr6:30431000-30432600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:30431000-30432600	Bivalent Enhancer	Adipose Nuclei	Adipose
16	chr6:30431200-30431800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:30431200-30431800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
18	chr6:30431200-30431800	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr6:30431200-30432000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
20	chr6:30431200-30432000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:30431200-30432000	Bivalent Enhancer	Brain Anterior Caudate	brain
22	chr6:30431200-30432200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
23	chr6:30431200-30432200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
24	chr6:30431200-30432200	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
25	chr6:30431200-30432400	Bivalent Enhancer	Fetal Heart	heart
26	chr6:30431200-30432600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:30431400-30431800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
28	chr6:30431400-30431800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:30431400-30431800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
30	chr6:30431400-30431800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr6:30431400-30431800	Bivalent Enhancer	HepG2	liver
32	chr6:30431400-30431800	Flanking Bivalent TSS/Enh	HMEC	breast
33	chr6:30431400-30431800	Bivalent Enhancer	NHLF	lung
34	chr6:30431400-30432000	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr6:30431400-30432000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
36	chr6:30431400-30432000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
37	chr6:30431400-30432000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:30431400-30432000	Bivalent Enhancer	Liver	Liver
39	chr6:30431400-30432000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
40	chr6:30431400-30432000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
41	chr6:30431400-30432200	Bivalent Enhancer	Fetal Stomach	stomach
42	chr6:30431400-30432400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:30431400-30432400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:30431400-30432400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr6:30431400-30432400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr6:30431400-30432400	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr6:30431400-30432400	Bivalent Enhancer	Placenta	Placenta
48	chr6:30431400-30432600	Bivalent Enhancer	Fetal Intestine Small	intestine
49	chr6:30431400-30432800	Bivalent Enhancer	Spleen	Spleen
50	chr6:30431400-30433000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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