Variant report

Variant	rs570337368
Chromosome Location	chr7:56118520-56118521
allele	C/T
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	POLR2A	chr7:56117687-56123706	K562	blood:	n/a	n/a
2	POLR2A	chr7:56117567-56120230	Raji	blood:	n/a	n/a
3	MYC	chr7:56118137-56120255	K562	blood:	n/a	chr7:56118751-56118766 chr7:56118751-56118764 chr7:56118751-56118764 chr7:56118752-56118763 chr7:56118753-56118762 chr7:56118753-56118763 chr7:56118751-56118764 chr7:56118755-56118762 chr7:56118748-56118767 chr7:56119760-56119770 chr7:56118752-56118763
4	GATA1	chr7:56118200-56120092	PBDE	blood:	n/a	chr7:56118266-56118275
5	MYC	chr7:56118352-56119882	H1-hESC	embryonic stem cell:	n/a	chr7:56118751-56118766 chr7:56118751-56118764 chr7:56118751-56118764 chr7:56118752-56118763 chr7:56118753-56118762 chr7:56118753-56118763 chr7:56118751-56118764 chr7:56118755-56118762 chr7:56118748-56118767 chr7:56119760-56119770 chr7:56118752-56118763
6	POLR2A	chr7:56117590-56120711	K562	blood:	n/a	n/a
7	RPC155	chr7:56117776-56118523	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr7:56118022-56120418	K562	blood:	n/a	n/a
9	POLR2A	chr7:56118394-56120226	GM18951	blood:	n/a	n/a
10	TBP	chr7:56118154-56118522	Hela-S3	cervix:	n/a	n/a
11	MYC	chr7:56118135-56119670	MCF10A-Er-Src	breast:	n/a	chr7:56118751-56118766 chr7:56118751-56118764 chr7:56118751-56118764 chr7:56118752-56118763 chr7:56118753-56118762 chr7:56118753-56118763 chr7:56118751-56118764 chr7:56118755-56118762 chr7:56118748-56118767 chr7:56118752-56118763
12	POLR2A	chr7:56117608-56122645	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr7:56117700-56118540	GM12892	blood:	n/a	n/a
14	MYC	chr7:56118149-56120309	NB4	blood:	n/a	chr7:56118751-56118766 chr7:56118751-56118764 chr7:56118751-56118764 chr7:56118752-56118763 chr7:56118753-56118762 chr7:56118753-56118763 chr7:56118751-56118764 chr7:56118755-56118762 chr7:56118748-56118767 chr7:56119760-56119770 chr7:56118752-56118763
15	POLR2A	chr7:56117595-56120499	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr7:56118218-56119986	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr7:56117958-56118524	GM12892	blood:	n/a	n/a
18	POLR2A	chr7:56118102-56119915	K562	blood:	n/a	n/a
19	ARID3A	chr7:56117818-56118583	K562	blood:	n/a	n/a
20	POLR2A	chr7:56117734-56118596	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:56117972-56120261	HUVEC	blood vessel:	n/a	n/a
22	MYC	chr7:56118140-56119899	K562	blood:	n/a	chr7:56118751-56118766 chr7:56118751-56118764 chr7:56118751-56118764 chr7:56118752-56118763 chr7:56118753-56118762 chr7:56118753-56118763 chr7:56118751-56118764 chr7:56118755-56118762 chr7:56118748-56118767 chr7:56119760-56119770 chr7:56118752-56118763
23	POLR2A	chr7:56117811-56118564	GM12892	blood:	n/a	n/a
24	POLR2A	chr7:56117587-56119887	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr7:56117175-56121009	HepG2	liver:	n/a	n/a
26	MAX	chr7:56118092-56120303	NB4	blood:	n/a	chr7:56118751-56118766 chr7:56118751-56118764 chr7:56118751-56118764 chr7:56118752-56118763 chr7:56118753-56118762 chr7:56118753-56118763 chr7:56118751-56118764 chr7:56118755-56118762 chr7:56118748-56118767 chr7:56119760-56119770 chr7:56118752-56118763
27	MAX	chr7:56118136-56120044	Hela-S3	cervix:	n/a	chr7:56118751-56118766 chr7:56118751-56118764 chr7:56118751-56118764 chr7:56118752-56118763 chr7:56118753-56118762 chr7:56118753-56118763 chr7:56118751-56118764 chr7:56118755-56118762 chr7:56118748-56118767 chr7:56119760-56119770 chr7:56118752-56118763
28	ARID3A	chr7:56118169-56118554	HepG2	liver:	n/a	n/a
29	POLR2A	chr7:56117859-56122614	K562	blood:	n/a	n/a
30	HCFC1	chr7:56118092-56120441	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr7:56117761-56119876	HCT-116	colon:	n/a	n/a
32	RCOR1	chr7:56117981-56120002	K562	blood:	n/a	n/a
33	POLR2A	chr7:56117602-56118563	GM12892	blood:	n/a	n/a
34	IRF1	chr7:56118244-56120434	K562	blood:	n/a	chr7:56119513-56119526
35	POLR2A	chr7:56117844-56122283	PFSK-1	brain:	n/a	n/a
36	STAT3	chr7:56118146-56118522	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr7:56117802-56120455	HepG2	liver:	n/a	n/a
38	POLR2A	chr7:56118513-56120803	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr7:56117697-56122605	GM12891	blood:	n/a	n/a
40	POLR2A	chr7:56117565-56122648	MCF10A-Er-Src	breast:	n/a	n/a
41	RCOR1	chr7:56118107-56119758	K562	blood:	n/a	n/a
42	POLR2A	chr7:56118018-56120325	IMR90	lung:	n/a	n/a
43	POLR2A	chr7:56117847-56120254	GM18505	blood:	n/a	n/a
44	POLR2A	chr7:56117952-56118683	U87	brain:	n/a	n/a
45	POLR2A	chr7:56117933-56119963	PBDE	blood:	n/a	n/a
46	MYC	chr7:56118122-56119927	MCF10A-Er-Src	breast:	n/a	chr7:56118751-56118766 chr7:56118751-56118764 chr7:56118751-56118764 chr7:56118752-56118763 chr7:56118753-56118762 chr7:56118753-56118763 chr7:56118751-56118764 chr7:56118755-56118762 chr7:56118748-56118767 chr7:56119760-56119770 chr7:56118752-56118763
47	POLR2A	chr7:56117650-56122140	SK-N-MC	brain:	n/a	n/a
48	MXI1	chr7:56118324-56120345	K562	blood:	n/a	n/a
49	POLR2A	chr7:56118340-56119455	K562	blood:	n/a	n/a
50	MAX	chr7:56118488-56120386	A549	lung:	n/a	chr7:56118751-56118766 chr7:56118751-56118764 chr7:56118751-56118764 chr7:56118752-56118763 chr7:56118753-56118762 chr7:56118753-56118763 chr7:56118751-56118764 chr7:56118755-56118762 chr7:56118748-56118767 chr7:56119760-56119770 chr7:56118752-56118763

No.	Distal block	Cell Line	Cell type
1	chr7:56100362..56103278-chr7:56116659..56119395,4	K562	blood:
2	chr7:56117578..56119708-chr7:56126304..56127920,2	MCF-7	breast:
3	chr7:56031349..56032951-chr7:56117963..56119524,2	K562	blood:
4	chr7:56029925..56033959-chr7:56116899..56121286,8	MCF-7	breast:
5	chr7:56117123..56123487-chr7:56128716..56133468,11	MCF-7	breast:
6	chr7:56031975..56033890-chr7:56117908..56119685,2	MCF-7	breast:
7	chr7:56100095..56103801-chr7:56117179..56120388,5	K562	blood:
8	chr7:56100273..56103332-chr7:56118092..56121325,5	MCF-7	breast:
9	chr7:56031349..56034408-chr7:56116793..56119463,3	K562	blood:

Variant related genes	Relation type
CCT6A	TF binding region
ENSG00000206603	TF binding region
ENSG00000146733	Chromatin interaction
ENSG00000146731	Chromatin interaction
ENSG00000129103	Chromatin interaction
ENSG00000146729	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
8	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	esv3425362	chr7:56118483-56121331	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 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	chr7:56108800-56118600	Weak transcription	Aorta	Aorta
2	chr7:56117600-56118600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr7:56117600-56118600	Enhancers	Esophagus	oesophagus
4	chr7:56117600-56118600	Enhancers	Gastric	stomach
5	chr7:56117600-56118600	Enhancers	Lung	lung
6	chr7:56117600-56118600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr7:56117600-56118600	Enhancers	Spleen	Spleen
8	chr7:56117600-56118800	Enhancers	Fetal Brain Male	brain
9	chr7:56117600-56120000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr7:56117800-56118600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr7:56117800-56118600	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:56117800-56118600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr7:56117800-56118600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:56117800-56118600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:56117800-56118600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:56117800-56118600	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr7:56117800-56118600	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr7:56117800-56118600	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr7:56117800-56118600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr7:56117800-56118600	Weak transcription	Small Intestine	intestine
21	chr7:56117800-56118800	Flanking Active TSS	NH-A	brain
22	chr7:56117800-56119000	Flanking Active TSS	HUVEC	blood vessel
23	chr7:56117800-56119200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:56117800-56119200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:56117800-56119200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr7:56117800-56120200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:56117800-56120200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:56117800-56120600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:56117800-56120600	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr7:56117800-56120600	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr7:56118000-56118600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:56118000-56118600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:56118000-56118600	Enhancers	Primary B cells from peripheral blood	blood
34	chr7:56118000-56118600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:56118000-56118600	Enhancers	Left Ventricle	heart
36	chr7:56118000-56118600	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr7:56118000-56118600	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr7:56118000-56118800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:56118000-56118800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr7:56118000-56119200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr7:56118000-56119600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr7:56118000-56120000	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr7:56118000-56120200	Active TSS	NHEK	skin
44	chr7:56118000-56120600	Active TSS	H9 Cell Line	embryonic stem cell
45	chr7:56118000-56120600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:56118000-56120600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:56118000-56120600	Active TSS	Colonic Mucosa	Colon
48	chr7:56118000-56120600	Active TSS	A549	lung
49	chr7:56118000-56120600	Active TSS	HSMM	muscle
50	chr7:56118000-56120800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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