Variant report

Variant	rs532875303
Chromosome Location	chr6:30434178-30434179
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HMGN3	chr6:30434011-30434536	K562	blood:	n/a	n/a
2	PAX5	chr6:30434034-30434454	GM12892	blood:	n/a	n/a
3	GABPA	chr6:30433964-30434682	MCF-7	breast:	n/a	n/a
4	TAF1	chr6:30434171-30434422	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr6:30434074-30434344	K562	blood:	n/a	n/a
6	ZC3H11A	chr6:30434120-30434250	K562	blood:	n/a	n/a
7	MYC	chr6:30434113-30434301	K562	blood:	n/a	n/a
8	MAX	chr6:30433960-30434375	A549	lung:	n/a	n/a
9	YY1	chr6:30434136-30434340	A549	lung:	n/a	n/a
10	MAX	chr6:30433902-30434948	A549	lung:	n/a	n/a
11	MAZ	chr6:30434109-30434303	K562	blood:	n/a	n/a
12	MAX	chr6:30433962-30434788	A549	lung:	n/a	n/a
13	UBTF	chr6:30433976-30434784	K562	blood:	n/a	n/a
14	YY1	chr6:30434106-30434433	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr6:30433688-30434841	K562	blood:	n/a	chr6:30433883-30433894 chr6:30433880-30433895 chr6:30433885-30433894
16	YY1	chr6:30434074-30434495	K562	blood:	n/a	n/a
17	E2F6	chr6:30433915-30434639	A549	lung:	n/a	n/a
18	CCNT2	chr6:30433986-30434442	K562	blood:	n/a	chr6:30434014-30434023
19	FOXP2	chr6:30434058-30434448	PFSK-1	brain:	n/a	n/a
20	RCOR1	chr6:30434080-30434284	HepG2	liver:	n/a	n/a
21	E2F6	chr6:30434017-30434512	K562	blood:	n/a	n/a
22	UBTF	chr6:30433757-30434658	K562	blood:	n/a	n/a
23	MBD4	chr6:30433904-30434338	HepG2	liver:	n/a	n/a
24	GABPA	chr6:30433930-30434352	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr6:30434140-30434218	ProgFib	skin:	n/a	n/a
26	STAT3	chr6:30434177-30434334	MCF10A-Er-Src	breast:	n/a	chr6:30434236-30434247
27	MAX	chr6:30433989-30434492	ECC-1	luminal epithelium:	n/a	n/a
28	MAX	chr6:30434065-30434267	K562	blood:	n/a	n/a
29	GABPA	chr6:30434065-30434259	HepG2	liver:	n/a	n/a
30	GABPA	chr6:30434055-30434253	GM12878	blood:	n/a	n/a
31	E2F4	chr6:30433997-30434384	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F6	chr6:30434015-30434242	K562	blood:	n/a	n/a
33	YY1	chr6:30433990-30434410	HepG2	liver:	n/a	n/a
34	GABPA	chr6:30434066-30434271	GM12878	blood:	n/a	n/a
35	ELF1	chr6:30433948-30434245	K562	blood:	n/a	chr6:30434031-30434044 chr6:30434033-30434042
36	ELF1	chr6:30433919-30434800	GM12878	blood:	n/a	chr6:30434031-30434044 chr6:30434033-30434042

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30434129-30434179	HCPEpiC	choroid plexus:	n/a
2	chr6:30434129-30434179	GM12878	blood:	n/a
3	chr6:30434129-30434179	HL-60	blood:	n/a
4	chr6:30434129-30434179	SK-N-SH_RA	brain:	n/a
5	chr6:30434129-30434179	GM19239	blood:	n/a
6	chr6:30434129-30434179	HIPEpiC	eye:	n/a
7	chr6:30434129-30434179	HRPEpiC	eye:	n/a
8	chr6:30434129-30434179	T-47D	breast:	n/a
9	chr6:30434129-30434179	NHBE	bronchial:	n/a
10	chr6:30434129-30434179	GM06990	blood:	n/a
11	chr6:30434129-30434179	MCF-7	breast:	n/a
12	chr6:30434129-30434179	AG04449	skin:	fetal
13	chr6:30434129-30434179	U87	brain:	n/a
14	chr6:30434129-30434179	MCF10A-Er-Src	breast:	n/a
15	chr6:30434129-30434179	NH-A	brain:	n/a
16	chr6:30434129-30434179	HCT-116	colon:	n/a
17	chr6:30434129-30434179	HPAEpiC	pulmonary alveolar:	n/a
18	chr6:30434129-30434179	LNCaP	prostate:	n/a
19	chr6:30434129-30434179	SAEC	small airway:	n/a
20	chr6:30434129-30434179	HMEC	breast:	n/a
21	chr6:30434129-30434179	NHDF-neo	bronchial:	n/a
22	chr6:30434129-30434179	ProgFib	skin:	n/a
23	chr6:30434129-30434179	HNPCEpiC	eye:	n/a
24	chr6:30434129-30434179	HAEpiC	amniotic membrane:	n/a
25	chr6:30434129-30434179	HCF	heart:	n/a
26	chr6:30434129-30434179	SKMC	muscle:	n/a
27	chr6:30434129-30434179	SK-N-SH	brain:	n/a
28	chr6:30434129-30434179	BJ	skin:	n/a
29	chr6:30434129-30434179	NT2-D1	testis:	n/a
30	chr6:30434129-30434179	GM12891	blood:	n/a
31	chr6:30434129-30434179	AG09309	skin:	n/a
32	chr6:30434129-30434179	H1-hESC	embryonic stem cell:	embryo
33	chr6:30434129-30434179	HRE	kidney:	n/a
34	chr6:30434129-30434179	Hela-S3	cervix:	n/a
35	chr6:30434129-30434179	ECC-1	luminal epithelium:	n/a
36	chr6:30434129-30434179	HCM	heart:	n/a
37	chr6:30434129-30434179	Hepatocyte	liver:	n/a
38	chr6:30434129-30434179	NB4	blood:	n/a
39	chr6:30434129-30434179	BE2_C	brain:	n/a
40	chr6:30434129-30434179	AoSMC	blood vessel:	n/a
41	chr6:30434129-30434179	HRCEpiC	kidney:	n/a
42	chr6:30434129-30434179	HUVEC	blood vessel:	n/a
43	chr6:30434129-30434179	HepG2	liver:	n/a
44	chr6:30434129-30434179	Jurkat	blood:	n/a
45	chr6:30434129-30434179	IMR90	lung:	fetal
46	chr6:30434129-30434179	A549	lung:	n/a
47	chr6:30434129-30434179	PrEC	prostate:	n/a
48	chr6:30434129-30434179	AG10803	skin:	n/a
49	chr6:30434129-30434179	PANC-1	pancreas:	n/a
50	chr6:30434129-30434179	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:30431634..30434565-chr6:30582972..30585070,2	K562	blood:
2	chr6:30433130..30435301-chr6:30582917..30586018,4	MCF-7	breast:
3	chr6:30431634..30435485-chr6:30582972..30586314,3	K562	blood:

No data

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv884071	chr6:30433090-30444357	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv884072	chr6:30433611-30447987	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30429800-30434200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:30431600-30434200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:30431600-30434200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:30431800-30434200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr6:30431800-30434400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
6	chr6:30432000-30434200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr6:30432000-30434200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
8	chr6:30432200-30434200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
9	chr6:30432200-30434200	Weak transcription	Gastric	stomach
10	chr6:30432800-30434400	Enhancers	Spleen	Spleen
11	chr6:30433000-30434200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
12	chr6:30433200-30434200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
13	chr6:30433200-30434800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:30433600-30434200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
15	chr6:30433800-30434200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:30433800-30434200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
17	chr6:30433800-30434200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:30433800-30434200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:30433800-30434200	Bivalent Enhancer	Fetal Intestine Large	intestine
20	chr6:30433800-30434200	Bivalent Enhancer	Fetal Intestine Small	intestine
21	chr6:30433800-30434200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr6:30433800-30434200	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr6:30433800-30434200	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr6:30433800-30434200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
25	chr6:30433800-30434200	Bivalent Enhancer	NH-A	brain
26	chr6:30433800-30434200	Flanking Bivalent TSS/Enh	NHEK	skin
27	chr6:30433800-30434400	Bivalent Enhancer	Placenta	Placenta
28	chr6:30433800-30434400	Bivalent Enhancer	Fetal Thymus	thymus
29	chr6:30433800-30434400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
30	chr6:30433800-30434400	Active TSS	Right Atrium	heart
31	chr6:30433800-30434600	Enhancers	Lung	lung
32	chr6:30433800-30434600	Bivalent/Poised TSS	Psoas Muscle	Psoas
33	chr6:30433800-30434800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr6:30433800-30434800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr6:30433800-30434800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:30433800-30434800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
39	chr6:30433800-30434800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
40	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
41	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
42	chr6:30433800-30434800	Bivalent Enhancer	Fetal Kidney	kidney
43	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
44	chr6:30433800-30434800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
45	chr6:30433800-30435000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr6:30433800-30435000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
47	chr6:30434000-30434200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:30434000-30434200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
49	chr6:30434000-30434200	Bivalent Enhancer	Primary B cells from cord blood	blood
50	chr6:30434000-30434200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood

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