Variant report

Variant	rs571019567
Chromosome Location	chr7:66118864-66118865
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	MXI1	chr7:66118246-66120883	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr7:66118821-66120669	IMR90	lung:	n/a	n/a
3	TCF12	chr7:66118801-66120388	A549	lung:	n/a	chr7:66120332-66120339
4	POLR2A	chr7:66118825-66120155	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr7:66118794-66119919	GM12892	blood:	n/a	n/a
6	STAT5A	chr7:66118824-66119416	GM12878	blood:	n/a	n/a
7	NR2F2	chr7:66118832-66120840	K562	blood:	n/a	n/a
8	POLR2A	chr7:66117540-66120560	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:66118823-66120120	GM12878	blood:	n/a	n/a
10	GABPA	chr7:66118808-66119984	MCF-7	breast:	n/a	chr7:66119500-66119509
11	MAX	chr7:66118838-66120132	MCF-7	breast:	n/a	n/a
12	GABPA	chr7:66118845-66119860	A549	lung:	n/a	chr7:66119500-66119509
13	MAX	chr7:66118758-66120178	HCT-116	colon:	n/a	n/a
14	HCFC1	chr7:66118714-66120344	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr7:66118834-66120038	MCF-7	breast:	n/a	n/a
16	CREB1	chr7:66118827-66119943	A549	lung:	n/a	n/a
17	ESRRA	chr7:66118837-66120225	GM12878	blood:	n/a	chr7:66120108-66120121 chr7:66119758-66119776
18	STAT5A	chr7:66118815-66120073	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:66118854-66120328	K562	blood:	n/a	n/a
20	POLR2A	chr7:66118848-66120518	K562	blood:	n/a	n/a
21	MYC	chr7:66118831-66120259	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr7:66118823-66119889	GM12891	blood:	n/a	n/a
23	JUN	chr7:66118858-66120754	K562	blood:	n/a	chr7:66119665-66119674
24	MAX	chr7:66118841-66120169	HepG2	liver:	n/a	n/a
25	PML	chr7:66118825-66120011	GM12878	blood:	n/a	n/a
26	MYBL2	chr7:66118849-66119812	HepG2	liver:	n/a	n/a
27	POLR2A	chr7:66118814-66120430	GM12892	blood:	n/a	n/a
28	ELF1	chr7:66118838-66119898	HCT-116	colon:	n/a	chr7:66119268-66119277 chr7:66119447-66119456 chr7:66119446-66119457 chr7:66119492-66119504 chr7:66119267-66119278
29	RCOR1	chr7:66118658-66120399	K562	blood:	n/a	n/a
30	POLR2A	chr7:66118773-66120478	GM12892	blood:	n/a	n/a
31	FOXM1	chr7:66118799-66120208	GM12878	blood:	n/a	n/a
32	ELF1	chr7:66118844-66119785	SK-N-SH	brain:	n/a	chr7:66119268-66119277 chr7:66119447-66119456 chr7:66119446-66119457 chr7:66119492-66119504 chr7:66119267-66119278
33	GTF3C2	chr7:66118772-66119340	Hela-S3	cervix:	n/a	n/a
34	MAZ	chr7:66118770-66120449	IMR90	lung:	n/a	n/a
35	POLR2A	chr7:66118793-66120489	PANC-1	pancreas:	n/a	n/a
36	MAX	chr7:66118845-66120142	SK-N-SH	brain:	n/a	n/a
37	CHD1	chr7:66118749-66121526	IMR90	lung:	n/a	n/a
38	POLR2A	chr7:66118284-66120509	Hela-S3	cervix:	n/a	n/a
39	REST	chr7:66118836-66120271	H1-neurons	neurons:	n/a	chr7:66120161-66120175 chr7:66119756-66119769 chr7:66119270-66119288
40	GTF3C2	chr7:66118788-66120260	K562	blood:	n/a	n/a
41	NRF1	chr7:66118833-66120077	SK-N-SH	brain:	n/a	chr7:66119500-66119509
42	HEY1	chr7:66118817-66119987	K562	blood:	n/a	chr7:66119492-66119507 chr7:66119665-66119680 chr7:66119495-66119510 chr7:66119202-66119217
43	POLR2A	chr7:66118856-66120164	U87	brain:	n/a	n/a
44	POLR2A	chr7:66118858-66119929	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr7:66118782-66120427	SK-N-MC	brain:	n/a	n/a
46	MAX	chr7:66118816-66120682	K562	blood:	n/a	n/a
47	POLR2A	chr7:66118806-66120648	Hela-S3	cervix:	n/a	n/a
48	MAX	chr7:66118826-66120045	HCT-116	colon:	n/a	n/a
49	TAF1	chr7:66118850-66120055	A549	lung:	n/a	n/a
50	POLR2A	chr7:66118795-66120600	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:66118717..66119559-chr8:27168671..27169259,2	Hela-S3	cervix:
2	chr7:66057103..66058075-chr7:66118859..66119855,2	MCF-7	breast:
3	chr7:66118152..66121117-chr7:66145225..66147766,4	MCF-7	breast:
4	chr7:66092456..66095854-chr7:66117562..66119715,4	MCF-7	breast:
5	chr7:66055924..66057616-chr7:66118024..66120875,2	K562	blood:
6	chr7:66118570..66121104-chr7:66386256..66388029,2	K562	blood:
7	chr7:65540244..65541852-chr7:66118000..66119624,2	K562	blood:
8	chr7:66117717..66119604-chr7:66204829..66207389,2	K562	blood:
9	chr7:66117771..66119349-chr7:66203886..66206364,2	MCF-7	breast:
10	chr7:66055703..66058887-chr7:66117840..66121190,6	MCF-7	breast:
11	chr7:66116638..66119241-chr7:66120094..66122874,2	K562	blood:
12	chr7:66091844..66094640-chr7:66118336..66122170,5	MCF-7	breast:
13	chr7:66091898..66097382-chr7:66117985..66122507,10	K562	blood:

Variant related genes	Relation type
ENSG00000226824	TF binding region
ENSG00000154710	Chromatin interaction
ENSG00000243335	Chromatin interaction
ENSG00000104228	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000120899	Chromatin interaction
ENSG00000272831	Chromatin interaction
ENSG00000126522	Chromatin interaction
ENSG00000232559	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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	esv2761151	chr7:66095738-66138285	Flanking Active TSS Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3496297	chr7:66099491-66136579	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv3496298	chr7:66099491-66136579	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv3486481	chr7:66101377-66137773	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv3486482	chr7:66101377-66137773	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv3509629	chr7:66101713-66137585	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv3509631	chr7:66101713-66137585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv967445	chr7:66112743-66133589	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv3441217	chr7:66118067-66120865	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66105000-66119000	Weak transcription	Gastric	stomach
2	chr7:66118000-66121000	Active TSS	H1 Cell Line	embryonic stem cell
3	chr7:66118200-66119000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr7:66118200-66119000	Active TSS	Brain Germinal Matrix	brain
5	chr7:66118200-66119000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr7:66118200-66119200	Flanking Active TSS	Dnd41	blood
7	chr7:66118200-66120800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr7:66118200-66120800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr7:66118200-66120800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:66118200-66120800	Active TSS	Fetal Intestine Large	intestine
11	chr7:66118200-66121000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:66118200-66121000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:66118200-66121200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:66118200-66121200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:66118200-66121200	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr7:66118200-66121200	Active TSS	NHDF-Ad	bronchial
17	chr7:66118400-66119000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr7:66118400-66119000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:66118400-66119000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr7:66118400-66119000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr7:66118400-66119000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr7:66118400-66119000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr7:66118400-66119000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr7:66118400-66119200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:66118400-66119200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:66118400-66119200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:66118400-66120400	Active TSS	Small Intestine	intestine
28	chr7:66118400-66120600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:66118400-66120600	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr7:66118400-66120800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr7:66118400-66120800	Active TSS	Right Atrium	heart
32	chr7:66118400-66120800	Active TSS	GM12878-XiMat	blood
33	chr7:66118400-66120800	Active TSS	HMEC	breast
34	chr7:66118400-66121000	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr7:66118400-66121000	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr7:66118400-66121000	Active TSS	Brain Cingulate Gyrus	brain
37	chr7:66118400-66121000	Active TSS	Osteobl	bone
38	chr7:66118400-66121200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:66118400-66121400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:66118600-66119000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr7:66118600-66119000	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr7:66118600-66119000	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr7:66118600-66119000	Flanking Active TSS	Fetal Thymus	thymus
44	chr7:66118600-66119200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr7:66118600-66119200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr7:66118600-66119200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:66118600-66119200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr7:66118600-66119200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr7:66118600-66119200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:66118600-66119200	Flanking Active TSS	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links