Variant report

Variant	rs185491815
Chromosome Location	chr6:30483797-30483798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr6:30483743-30484255	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:30483573-30484673	MCF-7	breast:	n/a	n/a
3	SPI1	chr6:30483772-30484552	GM12891	blood:	n/a	n/a
4	FOXA1	chr6:30483755-30484338	HepG2	liver:	n/a	n/a
5	PML	chr6:30483709-30484668	K562	blood:	n/a	n/a
6	CEBPB	chr6:30483781-30484157	A549	lung:	n/a	chr6:30483969-30483982 chr6:30483969-30483982 chr6:30483969-30483980 chr6:30483969-30483982 chr6:30484020-30484028
7	POLR2A	chr6:30483761-30484188	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F4	chr6:30483790-30484635	MCF10A-Er-Src	breast:	n/a	chr6:30484019-30484028
9	PML	chr6:30483790-30484705	K562	blood:	n/a	n/a
10	POLR2A	chr6:30483579-30484738	SK-N-MC	brain:	n/a	n/a
11	CBX3	chr6:30483500-30485224	K562	blood:	n/a	n/a
12	EP300	chr6:30483764-30484235	HepG2	liver:	n/a	chr6:30483970-30483984
13	POLR2A	chr6:30483665-30484691	K562	blood:	n/a	n/a
14	CEBPB	chr6:30483770-30484632	A549	lung:	n/a	chr6:30483969-30483982 chr6:30483969-30483982 chr6:30483969-30483980 chr6:30483969-30483982 chr6:30484020-30484028
15	POLR2A	chr6:30483788-30484220	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:30483755-30484105	GM12891	blood:	n/a	n/a
17	CEBPB	chr6:30483775-30484518	H1-hESC	embryonic stem cell:	n/a	chr6:30483969-30483982 chr6:30483969-30483982 chr6:30483969-30483980 chr6:30483969-30483982 chr6:30484020-30484028
18	CEBPD	chr6:30483694-30484681	K562	blood:	n/a	chr6:30483970-30483981
19	POLR2A	chr6:30483714-30484561	GM18951	blood:	n/a	n/a
20	SPI1	chr6:30483796-30484243	HL-60	blood:	n/a	n/a
21	SP1	chr6:30483737-30484586	A549	lung:	n/a	n/a
22	POLR2A	chr6:30483745-30484674	MCF10A-Er-Src	breast:	n/a	n/a
23	CHD1	chr6:30483753-30484533	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:30483660-30484657	HUVEC	blood vessel:	n/a	n/a
25	CEBPB	chr6:30483691-30484548	ECC-1	luminal epithelium:	n/a	chr6:30483969-30483982 chr6:30483969-30483982 chr6:30483969-30483980 chr6:30483969-30483982 chr6:30484020-30484028
26	FOXA1	chr6:30483749-30484316	HepG2	liver:	n/a	n/a
27	ELF1	chr6:30483761-30484557	A549	lung:	n/a	chr6:30484407-30484416 chr6:30484410-30484422
28	RUNX3	chr6:30483797-30484658	GM12878	blood:	n/a	n/a
29	HEY1	chr6:30483700-30484652	HepG2	liver:	n/a	n/a
30	NFIC	chr6:30483763-30484524	HepG2	liver:	n/a	n/a
31	YY1	chr6:30483752-30484618	HepG2	liver:	n/a	chr6:30484407-30484416 chr6:30484408-30484422
32	POLR2A	chr6:30483702-30484747	HL-60	blood:	n/a	n/a
33	RUNX3	chr6:30483762-30484673	GM12878	blood:	n/a	n/a
34	ZBTB7A	chr6:30483775-30484312	K562	blood:	n/a	n/a
35	SPI1	chr6:30483707-30484690	HL-60	blood:	n/a	n/a
36	POLR2A	chr6:30483542-30484513	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr6:30483723-30484587	NB4	blood:	n/a	n/a
38	PML	chr6:30483640-30484716	GM12878	blood:	n/a	n/a
39	POLR2A	chr6:30483741-30484526	GM15510	blood:	n/a	n/a
40	MAX	chr6:30483774-30484204	K562	blood:	n/a	n/a
41	MTA3	chr6:30483693-30484724	GM12878	blood:	n/a	n/a
42	POLR2A	chr6:30483751-30484527	GM12891	blood:	n/a	n/a
43	CTCF	chr6:30483660-30483810	GM12873	blood:	n/a	n/a
44	IRF4	chr6:30483763-30484668	GM12878	blood:	n/a	n/a
45	GTF3C2	chr6:30483537-30484762	K562	blood:	n/a	n/a
46	TEAD4	chr6:30483667-30484717	K562	blood:	n/a	n/a
47	NFIC	chr6:30483629-30484622	HepG2	liver:	n/a	n/a
48	NR2F2	chr6:30483779-30484616	K562	blood:	n/a	n/a
49	RELA	chr6:30483792-30484616	GM15510	blood:	n/a	n/a
50	POLR2A	chr6:30483622-30484713	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30482665..30485731-chr6:30524141..30525971,3	MCF-7	breast:
2	chr6:30482834..30484451-chr6:30614992..30617203,2	MCF-7	breast:
3	chr6:30482719..30486624-chr6:30535507..30541696,8	K562	blood:
4	chr6:30455700..30459615-chr6:30482438..30485842,11	MCF-7	breast:
5	chr6:30482934..30485578-chr6:30684677..30686611,2	K562	blood:
6	chr6:30456365..30459515-chr6:30480416..30486332,6	MCF-7	breast:
7	chr6:30455872..30460443-chr6:30482529..30486009,9	K562	blood:
8	chr6:30481563..30487862-chr6:30521673..30526487,12	K562	blood:
9	chr6:30481743..30485761-chr6:30582102..30585444,5	K562	blood:
10	chr6:30482489..30485588-chr6:30582296..30586114,5	K562	blood:
11	chr6:30456467..30458810-chr6:30482542..30485985,4	K562	blood:

Variant related genes	Relation type
ENSG00000235781	TF binding region
ENSG00000204574	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000266183	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000204569	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv884076	chr6:30434566-30483919	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
6	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv823471	chr6:30483102-30483978	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30468800-30483800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:30476600-30485200	Weak transcription	Small Intestine	intestine
3	chr6:30477400-30483800	Weak transcription	HMEC	breast
4	chr6:30482400-30485000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr6:30482600-30483800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:30482600-30483800	Weak transcription	HSMM	muscle
7	chr6:30482800-30483800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:30482800-30483800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:30482800-30483800	Enhancers	HUVEC	blood vessel
10	chr6:30482800-30484400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:30483000-30484200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr6:30483000-30484400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr6:30483000-30484400	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr6:30483000-30484400	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr6:30483000-30484600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr6:30483000-30484800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:30483000-30484800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr6:30483000-30484800	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr6:30483200-30483800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:30483200-30484000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:30483200-30484000	Active TSS	GM12878-XiMat	blood
22	chr6:30483200-30484200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr6:30483200-30484400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:30483200-30484400	Active TSS	Brain Angular Gyrus	brain
25	chr6:30483200-30484600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:30483200-30484600	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr6:30483200-30484600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr6:30483200-30484600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:30483200-30484600	Active TSS	Brain Anterior Caudate	brain
30	chr6:30483200-30485000	Flanking Active TSS	Dnd41	blood
31	chr6:30483400-30483800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:30483400-30483800	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr6:30483400-30483800	Active TSS	Monocytes-CD14+_RO01746	blood
34	chr6:30483400-30483800	Weak transcription	NHLF	lung
35	chr6:30483400-30484000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr6:30483400-30484400	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr6:30483400-30484600	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr6:30483400-30484600	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr6:30483400-30484600	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr6:30483400-30484600	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr6:30483400-30484800	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr6:30483400-30484800	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr6:30483400-30484800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr6:30483400-30484800	Active TSS	Thymus	Thymus
45	chr6:30483600-30483800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr6:30483600-30483800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:30483600-30483800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:30483600-30483800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:30483600-30483800	Active TSS	Muscle Satellite Cultured Cells	--
50	chr6:30483600-30483800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links