Variant report

Variant	rs192952469
Chromosome Location	chr7:100660663-100660664
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	ATF3	chr7:100660660-100661103	A549	lung:	n/a	n/a
2	YY1	chr7:100660276-100661061	K562	blood:	n/a	n/a
3	EP300	chr7:100660040-100661082	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:100660033-100661070	GM18505	blood:	n/a	n/a
5	POLR2A	chr7:100660621-100660992	GM12892	blood:	n/a	n/a
6	RCOR1	chr7:100660268-100661097	K562	blood:	n/a	n/a
7	POLR2A	chr7:100660647-100660945	ProgFib	skin:	n/a	n/a
8	MAFK	chr7:100660324-100660974	HepG2	liver:	n/a	n/a
9	ELF1	chr7:100659802-100661122	GM12878	blood:	n/a	chr7:100660411-100660422
10	RFX5	chr7:100660141-100661239	IMR90	lung:	n/a	chr7:100660492-100660506
11	FOXA2	chr7:100660566-100661141	A549	lung:	n/a	n/a
12	POLR2A	chr7:100659986-100661148	GM12878	blood:	n/a	n/a
13	JUN	chr7:100660204-100661217	K562	blood:	n/a	chr7:100660945-100660953
14	POLR2A	chr7:100659947-100661073	GM19193	blood:	n/a	n/a
15	MTA3	chr7:100660329-100661186	GM12878	blood:	n/a	n/a
16	REST	chr7:100660625-100661056	A549	lung:	n/a	n/a
17	BHLHE40	chr7:100660484-100661125	GM12878	blood:	n/a	n/a
18	ZNF263	chr7:100660000-100661038	K562	blood:	n/a	chr7:100660149-100660158 chr7:100660791-100660812
19	POLR2A	chr7:100659915-100661066	GM19099	blood:	n/a	n/a
20	JUN	chr7:100660487-100661123	K562	blood:	n/a	chr7:100660945-100660953
21	STAT1	chr7:100660508-100661068	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:100660442-100661090	K562	blood:	n/a	n/a
23	MAZ	chr7:100660541-100661130	K562	blood:	n/a	n/a
24	MXI1	chr7:100660294-100661027	GM12878	blood:	n/a	n/a
25	GABPA	chr7:100660336-100661112	A549	lung:	n/a	n/a
26	SIN3A	chr7:100659980-100660985	H1-hESC	embryonic stem cell:	n/a	chr7:100660369-100660382
27	RCOR1	chr7:100660470-100661056	GM12878	blood:	n/a	n/a
28	BCL3	chr7:100660552-100661086	A549	lung:	n/a	n/a
29	POLR2A	chr7:100660580-100661115	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr7:100659891-100661221	GM12892	blood:	n/a	n/a
31	POLR2A	chr7:100660619-100660998	GM12891	blood:	n/a	n/a
32	TAF1	chr7:100660240-100660943	H1-hESC	embryonic stem cell:	n/a	n/a
33	EP300	chr7:100660539-100661248	A549	lung:	n/a	n/a
34	ZNF263	chr7:100660145-100660964	HEK293-T-REx	kidney:	n/a	chr7:100660149-100660158 chr7:100660791-100660812
35	SP1	chr7:100660260-100661140	A549	lung:	n/a	chr7:100660965-100660974 chr7:100660964-100660978 chr7:100660283-100660292 chr7:100660964-100660974 chr7:100660963-100660975 chr7:100660963-100660975
36	POLR2A	chr7:100659968-100661057	H1-hESC	embryonic stem cell:	n/a	n/a
37	ELF1	chr7:100660190-100661197	GM12878	blood:	n/a	chr7:100660411-100660422
38	POLR2A	chr7:100660474-100661137	GM12892	blood:	n/a	n/a
39	POLR2A	chr7:100659996-100661084	GM12878	blood:	n/a	n/a
40	MAFF	chr7:100660326-100660994	HepG2	liver:	n/a	n/a
41	MAZ	chr7:100659685-100661326	IMR90	lung:	n/a	chr7:100660284-100660294
42	POLR2A	chr7:100660274-100661178	GM12878	blood:	n/a	n/a
43	RUNX3	chr7:100660453-100661091	GM12878	blood:	n/a	n/a
44	TEAD4	chr7:100660206-100661094	K562	blood:	n/a	n/a
45	POLR2A	chr7:100660594-100661012	GM12891	blood:	n/a	n/a
46	POLR2A	chr7:100660422-100661093	U87	brain:	n/a	n/a
47	POLR2A	chr7:100660292-100661099	U87	brain:	n/a	n/a
48	GABPA	chr7:100660441-100661208	MCF-7	breast:	n/a	n/a
49	RCOR1	chr7:100660416-100660874	K562	blood:	n/a	n/a
50	POLR2A	chr7:100659929-100661122	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100486083..100488238-chr7:100659648..100662388,2	MCF-7	breast:
2	chr7:100608767..100609716-chr7:100660411..100661061,2	K562	blood:
3	chr7:100606234..100609871-chr7:100659072..100662376,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC17-1	chr7:100660544-100660678	NONHSAT122438
2	lnc-MUC17-1	chr7:100660615-100660944	NONHSAT122439

Variant related genes	Relation type
MUC17	TF binding region
ENSG00000169894	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000225946	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1822460	chr7:100606044-100749246	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv427796	chr7:100606044-100749246	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv428181	chr7:100606044-100749246	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv831074	chr7:100606051-100745532	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	esv1836983	chr7:100630638-100669857	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	esv1849981	chr7:100633668-100686761	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv1828583	chr7:100652181-100676353	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv1823966	chr7:100652181-100693849	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv3352938	chr7:100659732-100663130	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv3405131	chr7:100660057-100662805	Enhancers Bivalent Enhancer Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	esv3359760	chr7:100660332-100662580	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100659000-100661000	Enhancers	Spleen	Spleen
2	chr7:100659600-100661000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr7:100659600-100661200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:100659600-100661200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr7:100659600-100662000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:100659800-100660800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
7	chr7:100659800-100661000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr7:100659800-100661000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:100659800-100661000	Flanking Active TSS	GM12878-XiMat	blood
10	chr7:100659800-100661000	Active TSS	HSMM	muscle
11	chr7:100659800-100661000	Active TSS	NHLF	lung
12	chr7:100659800-100661200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
13	chr7:100659800-100661200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr7:100659800-100661200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:100659800-100662000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr7:100659800-100662000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:100660000-100660800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:100660000-100660800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr7:100660000-100660800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:100660000-100660800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:100660000-100660800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
22	chr7:100660000-100660800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
23	chr7:100660000-100660800	Flanking Active TSS	A549	lung
24	chr7:100660000-100660800	Enhancers	HUVEC	blood vessel
25	chr7:100660000-100660800	Flanking Active TSS	K562	blood
26	chr7:100660000-100661000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:100660000-100661000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:100660000-100661000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:100660000-100661000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:100660000-100661000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:100660000-100661000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr7:100660000-100661000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:100660000-100661000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:100660000-100661000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:100660000-100661000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:100660000-100661000	Active TSS	Brain Angular Gyrus	brain
37	chr7:100660000-100661000	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr7:100660000-100661000	Flanking Active TSS	Fetal Brain Female	brain
39	chr7:100660000-100661000	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr7:100660000-100661000	Bivalent Enhancer	Fetal Lung	lung
41	chr7:100660000-100661000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr7:100660000-100661000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
43	chr7:100660000-100661000	Active TSS	Placenta Amnion	Placenta Amnion
44	chr7:100660000-100661000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
45	chr7:100660000-100661000	Flanking Active TSS	HMEC	breast
46	chr7:100660000-100661000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
47	chr7:100660000-100661000	Flanking Active TSS	NH-A	brain
48	chr7:100660000-100661000	Flanking Active TSS	Osteobl	bone
49	chr7:100660000-100661200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr7:100660000-100661200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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