Variant report

Variant	rs531513544
Chromosome Location	chr7:66119003-66119004
allele	G/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	SETDB1	chr7:66118950-66120212	K562	blood:	n/a	n/a
3	MXI1	chr7:66118821-66120669	IMR90	lung:	n/a	n/a
4	TCF12	chr7:66118801-66120388	A549	lung:	n/a	chr7:66120332-66120339
5	TAF1	chr7:66118977-66120050	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr7:66118947-66120420	K562	blood:	n/a	chr7:66119500-66119509 chr7:66119529-66119540 chr7:66120079-66120094 chr7:66119693-66119702
7	POLR2A	chr7:66118825-66120155	HUVEC	blood vessel:	n/a	n/a
8	REST	chr7:66118978-66119801	MCF-7	breast:	n/a	chr7:66119756-66119769 chr7:66119270-66119288
9	POLR2A	chr7:66118901-66119960	GM12891	blood:	n/a	n/a
10	POLR2A	chr7:66118946-66120489	H1-hESC	embryonic stem cell:	n/a	n/a
11	EBF1	chr7:66118981-66119523	GM12878	blood:	n/a	n/a
12	E2F6	chr7:66118997-66120046	H1-hESC	embryonic stem cell:	n/a	chr7:66119500-66119509 chr7:66119529-66119540 chr7:66119693-66119702
13	CREB1	chr7:66118955-66119886	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:66118794-66119919	GM12892	blood:	n/a	n/a
15	POLR2A	chr7:66118938-66119958	GM12891	blood:	n/a	n/a
16	STAT5A	chr7:66118824-66119416	GM12878	blood:	n/a	n/a
17	MAX	chr7:66118925-66120131	ECC-1	luminal epithelium:	n/a	n/a
18	TRIM28	chr7:66118911-66119888	K562	blood:	n/a	n/a
19	TAF1	chr7:66118961-66119416	Hela-S3	cervix:	n/a	n/a
20	NR2F2	chr7:66118832-66120840	K562	blood:	n/a	n/a
21	POLR2A	chr7:66118923-66119960	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:66117540-66120560	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:66118941-66119858	K562	blood:	n/a	n/a
24	SP1	chr7:66118987-66119859	A549	lung:	n/a	chr7:66119500-66119510 chr7:66119499-66119511 chr7:66119500-66119509 chr7:66119501-66119510 chr7:66119500-66119510 chr7:66119499-66119511 chr7:66119501-66119510
25	POLR2A	chr7:66118980-66120280	A549	lung:	n/a	n/a
26	YY1	chr7:66118981-66120125	HepG2	liver:	n/a	chr7:66119693-66119702 chr7:66119491-66119505 chr7:66119500-66119509
27	POLR2A	chr7:66118930-66120068	HL-60	blood:	n/a	n/a
28	POLR2A	chr7:66118823-66120120	GM12878	blood:	n/a	n/a
29	GABPA	chr7:66118808-66119984	MCF-7	breast:	n/a	chr7:66119500-66119509
30	MAX	chr7:66118838-66120132	MCF-7	breast:	n/a	n/a
31	NFIC	chr7:66118973-66119870	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr7:66118974-66120168	HepG2	liver:	n/a	n/a
33	GABPA	chr7:66118845-66119860	A549	lung:	n/a	chr7:66119500-66119509
34	MAX	chr7:66118758-66120178	HCT-116	colon:	n/a	n/a
35	HCFC1	chr7:66118714-66120344	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr7:66118834-66120038	MCF-7	breast:	n/a	n/a
37	MYC	chr7:66118960-66120380	K562	blood:	n/a	n/a
38	GABPA	chr7:66118976-66119806	SK-N-SH	brain:	n/a	chr7:66119500-66119509
39	GATA3	chr7:66119001-66119922	A549	lung:	n/a	n/a
40	RCOR1	chr7:66118954-66120266	Hela-S3	cervix:	n/a	n/a
41	CREB1	chr7:66118827-66119943	A549	lung:	n/a	n/a
42	ESRRA	chr7:66118837-66120225	GM12878	blood:	n/a	chr7:66120108-66120121 chr7:66119758-66119776
43	STAT5A	chr7:66118815-66120073	GM12878	blood:	n/a	n/a
44	POLR2A	chr7:66118917-66119879	GM12878	blood:	n/a	n/a
45	POLR2A	chr7:66118854-66120328	K562	blood:	n/a	n/a
46	USF1	chr7:66118937-66119595	A549	lung:	n/a	chr7:66119491-66119507 chr7:66119250-66119266
47	MAFK	chr7:66118988-66120058	Hela-S3	cervix:	n/a	n/a
48	GABPA	chr7:66118899-66119819	MCF-7	breast:	n/a	chr7:66119500-66119509
49	POLR2A	chr7:66118848-66120518	K562	blood:	n/a	n/a
50	USF2	chr7:66118960-66119658	Hela-S3	cervix:	n/a	chr7:66119491-66119507 chr7:66119250-66119266

No.	Distal block	Cell Line	Cell type
1	chr7:66118921..66119611-chr7:66204868..66205819,2	HCT-116	colon:
2	chr7:66118717..66119559-chr8:27168671..27169259,2	Hela-S3	cervix:
3	chr7:66057103..66058075-chr7:66118859..66119855,2	MCF-7	breast:
4	chr7:66118152..66121117-chr7:66145225..66147766,4	MCF-7	breast:
5	chr7:66092456..66095854-chr7:66117562..66119715,4	MCF-7	breast:
6	chr7:66055924..66057616-chr7:66118024..66120875,2	K562	blood:
7	chr7:66118570..66121104-chr7:66386256..66388029,2	K562	blood:
8	chr7:65540244..65541852-chr7:66118000..66119624,2	K562	blood:
9	chr7:66117717..66119604-chr7:66204829..66207389,2	K562	blood:
10	chr7:66117771..66119349-chr7:66203886..66206364,2	MCF-7	breast:
11	chr7:66055703..66058887-chr7:66117840..66121190,6	MCF-7	breast:
12	chr7:66118965..66120049-chr7:66146710..66147584,5	MCF-7	breast:
13	chr7:66116638..66119241-chr7:66120094..66122874,2	K562	blood:
14	chr7:66091844..66094640-chr7:66118336..66122170,5	MCF-7	breast:
15	chr7:66091898..66097382-chr7:66117985..66122507,10	K562	blood:

Variant related genes	Relation type
ENSG00000226824	TF binding region
ENSG00000126522	Chromatin interaction
ENSG00000272831	Chromatin interaction
ENSG00000104228	Chromatin interaction
ENSG00000106609	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000120899	Chromatin interaction
ENSG00000232559	Chromatin interaction
ENSG00000243335	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66118000-66121000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr7:66118200-66119200	Flanking Active TSS	Dnd41	blood
3	chr7:66118200-66120800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr7:66118200-66120800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr7:66118200-66120800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:66118200-66120800	Active TSS	Fetal Intestine Large	intestine
7	chr7:66118200-66121000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:66118200-66121000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:66118200-66121200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:66118200-66121200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:66118200-66121200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:66118200-66121200	Active TSS	NHDF-Ad	bronchial
13	chr7:66118400-66119200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:66118400-66119200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:66118400-66119200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:66118400-66120400	Active TSS	Small Intestine	intestine
17	chr7:66118400-66120600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:66118400-66120600	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr7:66118400-66120800	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr7:66118400-66120800	Active TSS	Right Atrium	heart
21	chr7:66118400-66120800	Active TSS	GM12878-XiMat	blood
22	chr7:66118400-66120800	Active TSS	HMEC	breast
23	chr7:66118400-66121000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr7:66118400-66121000	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr7:66118400-66121000	Active TSS	Brain Cingulate Gyrus	brain
26	chr7:66118400-66121000	Active TSS	Osteobl	bone
27	chr7:66118400-66121200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:66118400-66121400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:66118600-66119200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr7:66118600-66119200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr7:66118600-66119200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:66118600-66119200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr7:66118600-66119200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr7:66118600-66119200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:66118600-66119200	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr7:66118600-66119600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:66118600-66119600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:66118600-66119800	Active TSS	Placenta	Placenta
39	chr7:66118600-66120000	Active TSS	Primary T cells from cord blood	blood
40	chr7:66118600-66120000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:66118600-66120000	Active TSS	HepG2	liver
42	chr7:66118600-66120400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:66118600-66120400	Active TSS	HUVEC	blood vessel
44	chr7:66118600-66120600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:66118600-66120600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:66118600-66120600	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr7:66118600-66120600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:66118600-66120600	Active TSS	Liver	Liver
49	chr7:66118600-66120600	Active TSS	Brain Angular Gyrus	brain
50	chr7:66118600-66120600	Active TSS	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links