Variant report

Variant	rs530980347
Chromosome Location	chr6:13486805-13486806
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	MXI1	chr6:13484535-13488686	SK-N-SH	brain:	n/a	n/a
2	MAX	chr6:13486768-13488070	A549	lung:	n/a	chr6:13487342-13487351
3	POLR2A	chr6:13485907-13488270	GM18951	blood:	n/a	n/a
4	POLR2A	chr6:13485921-13488226	GM12892	blood:	n/a	n/a
5	MAX	chr6:13486246-13487267	HUVEC	blood vessel:	n/a	chr6:13486482-13486492
6	ZNF143	chr6:13485857-13487179	GM12878	blood:	n/a	n/a
7	MYC	chr6:13486067-13488139	NB4	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
8	CHD1	chr6:13485653-13487078	GM12878	blood:	n/a	n/a
9	SIN3A	chr6:13485974-13487504	GM12878	blood:	n/a	chr6:13487441-13487454
10	MAX	chr6:13486184-13488812	GM12878	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
11	POLR2A	chr6:13486803-13487949	GM12878	blood:	n/a	n/a
12	MYC	chr6:13486170-13488139	K562	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
13	POLR2A	chr6:13486331-13488405	H1-hESC	embryonic stem cell:	n/a	n/a
14	MXI1	chr6:13486134-13487276	H1-hESC	embryonic stem cell:	n/a	n/a
15	SMC3	chr6:13485901-13488192	Hela-S3	cervix:	n/a	n/a
16	MAX	chr6:13486122-13489098	ECC-1	luminal epithelium:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
17	MYC	chr6:13486169-13487984	K562	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
18	MAX	chr6:13486152-13488018	Hela-S3	cervix:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
19	MAX	chr6:13485823-13488217	K562	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
20	MYC	chr6:13486048-13487263	MCF10A-Er-Src	breast:	n/a	chr6:13486482-13486492
21	UBTF	chr6:13486612-13487994	K562	blood:	n/a	n/a
22	MAX	chr6:13486151-13488394	HCT-116	colon:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
23	MAX	chr6:13486166-13487307	SK-N-SH	brain:	n/a	chr6:13486482-13486492
24	MAX	chr6:13486178-13489004	ECC-1	luminal epithelium:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
25	CBX3	chr6:13486781-13487276	K562	blood:	n/a	n/a
26	MAX	chr6:13486136-13487354	MCF-7	breast:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
27	MAX	chr6:13486114-13488111	SK-N-SH	brain:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
28	SIN3A	chr6:13485845-13488935	H1-hESC	embryonic stem cell:	n/a	chr6:13487441-13487454 chr6:13487722-13487733
29	MAZ	chr6:13486207-13488199	Hela-S3	cervix:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
30	MAZ	chr6:13486205-13487304	GM12878	blood:	n/a	chr6:13486482-13486492
31	POLR2A	chr6:13485963-13488286	GM19193	blood:	n/a	n/a
32	POLR2A	chr6:13486598-13487930	Hela-S3	cervix:	n/a	n/a
33	BHLHE40	chr6:13485785-13487912	K562	blood:	n/a	chr6:13486336-13486352 chr6:13487437-13487453 chr6:13487232-13487248
34	UBTF	chr6:13486005-13488042	K562	blood:	n/a	n/a
35	E2F6	chr6:13486464-13489361	H1-hESC	embryonic stem cell:	n/a	chr6:13488882-13488892 chr6:13488624-13488633 chr6:13487750-13487760 chr6:13488144-13488158 chr6:13488515-13488524
36	MAX	chr6:13486320-13487242	A549	lung:	n/a	chr6:13486482-13486492
37	POLR2A	chr6:13485896-13488307	GM19099	blood:	n/a	n/a
38	POLR2A	chr6:13486116-13488358	HL-60	blood:	n/a	n/a
39	POLR2A	chr6:13486622-13488336	MCF-7	breast:	n/a	n/a
40	MBD4	chr6:13486482-13487174	HepG2	liver:	n/a	n/a
41	POLR2A	chr6:13486245-13487954	Hela-S3	cervix:	n/a	n/a
42	ZNF263	chr6:13485651-13488433	HEK293-T-REx	kidney:	n/a	chr6:13486705-13486714
43	MAX	chr6:13486184-13487929	HepG2	liver:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
44	REST	chr6:13486305-13488706	H1-neurons	neurons:	n/a	chr6:13488639-13488646 chr6:13486435-13486448
45	POLR2A	chr6:13486140-13488291	GM15510	blood:	n/a	n/a
46	SMARCB1	chr6:13485896-13487926	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr6:13486177-13488411	H1-neurons	neurons:	n/a	n/a
48	CEBPB	chr6:13486154-13487272	Hela-S3	cervix:	n/a	n/a
49	MAX	chr6:13486196-13488099	K562	blood:	n/a	chr6:13487342-13487351 chr6:13486482-13486492
50	POLR2A	chr6:13486063-13488271	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:13273285..13276286-chr6:13486162..13489029,3	K562	blood:
2	chr6:13408139..13410381-chr6:13486541..13489029,3	MCF-7	breast:
3	chr6:13273285..13276286-chr6:13486162..13489029,4	K562	blood:
4	chr6:13484664..13490672-chr6:13572714..13577234,9	K562	blood:
5	chr6:13484393..13490113-chr6:13572102..13578017,14	MCF-7	breast:
6	chr6:13465251..13472690-chr6:13481619..13489131,10	K562	blood:
7	chr6:13326316..13328538-chr6:13485562..13488530,2	MCF-7	breast:
8	chr6:13471062..13472931-chr6:13486374..13489089,2	MCF-7	breast:
9	chr6:13486147..13488786-chr6:13613803..13616517,3	K562	blood:
10	chr6:13485388..13489511-chr6:13572660..13577514,13	MCF-7	breast:
11	chr6:13325999..13330365-chr6:13484429..13488653,6	MCF-7	breast:
12	chr6:13486545..13489203-chr6:13612282..13616748,6	MCF-7	breast:
13	chr6:13406818..13408886-chr6:13483840..13488220,5	MCF-7	breast:
14	chr6:13484642..13487748-chr6:13572714..13576594,3	K562	blood:
15	chr6:13486736..13489619-chr6:13614070..13616875,2	MCF-7	breast:

Variant related genes	Relation type
GFOD1	TF binding region
ENSG00000187461	TF binding region
ENSG00000124523	Chromatin interaction
ENSG00000215022	Chromatin interaction
ENSG00000145979	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000225921	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3421701	chr6:13485573-13489871	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3363743	chr6:13486598-13489146	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 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	chr6:13483200-13488800	Active TSS	Right Atrium	heart
2	chr6:13483400-13487600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:13484200-13488600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:13484600-13487200	Flanking Active TSS	Liver	Liver
5	chr6:13484600-13488400	Active TSS	GM12878-XiMat	blood
6	chr6:13484800-13487200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr6:13484800-13488400	Active TSS	Right Ventricle	heart
8	chr6:13485000-13488800	Active TSS	Brain Angular Gyrus	brain
9	chr6:13485000-13489600	Active TSS	Rectal Smooth Muscle	rectum
10	chr6:13485200-13488200	Active TSS	Stomach Smooth Muscle	stomach
11	chr6:13485200-13488200	Active TSS	NHLF	lung
12	chr6:13485200-13488600	Active TSS	Left Ventricle	heart
13	chr6:13485200-13488600	Active TSS	A549	lung
14	chr6:13485200-13488800	Active TSS	Brain Anterior Caudate	brain
15	chr6:13485200-13488800	Active TSS	Psoas Muscle	Psoas
16	chr6:13485400-13487200	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr6:13485400-13487200	Active TSS	Fetal Brain Male	brain
18	chr6:13485400-13487600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr6:13485400-13488600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:13485400-13488600	Active TSS	NHDF-Ad	bronchial
21	chr6:13485600-13487000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
22	chr6:13485600-13488200	Active TSS	Placenta Amnion	Placenta Amnion
23	chr6:13485600-13488200	Active TSS	HSMMtube	muscle
24	chr6:13485600-13488600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr6:13485600-13488600	Active TSS	Esophagus	oesophagus
26	chr6:13485600-13488600	Active TSS	Lung	lung
27	chr6:13485600-13488800	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr6:13485600-13488800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr6:13485600-13489000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:13485800-13487000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr6:13485800-13487200	Flanking Active TSS	Placenta	Placenta
32	chr6:13485800-13487400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr6:13485800-13487400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr6:13485800-13488600	Active TSS	Ovary	ovary
35	chr6:13486000-13487000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:13486000-13487000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:13486000-13487000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:13486000-13487200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:13486000-13487200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr6:13486000-13487400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr6:13486000-13487400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
42	chr6:13486000-13487600	Active TSS	Fetal Heart	heart
43	chr6:13486000-13488200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:13486000-13488200	Active TSS	Spleen	Spleen
45	chr6:13486000-13488200	Active TSS	Hela-S3	cervix
46	chr6:13486000-13488200	Active TSS	HMEC	breast
47	chr6:13486000-13488200	Active TSS	K562	blood
48	chr6:13486000-13488400	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr6:13486000-13488600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:13486000-13488600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links