Variant report

Variant	rs377223740
Chromosome Location	chr7:100660849-100660850
allele	C/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	SPI1	chr7:100660789-100661058	K562	blood:	n/a	chr7:100660988-100660995
3	JUND	chr7:100660730-100661104	H1-hESC	embryonic stem cell:	n/a	chr7:100660943-100660954 chr7:100660945-100660953
4	YY1	chr7:100660276-100661061	K562	blood:	n/a	n/a
5	MTA3	chr7:100660774-100661055	GM12878	blood:	n/a	n/a
6	EP300	chr7:100660040-100661082	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:100660033-100661070	GM18505	blood:	n/a	n/a
8	EBF1	chr7:100660694-100661915	GM12878	blood:	n/a	chr7:100661044-100661055 chr7:100660968-100660979 chr7:100661025-100661036
9	POLR2A	chr7:100660621-100660992	GM12892	blood:	n/a	n/a
10	EBF1	chr7:100660677-100661945	GM12878	blood:	n/a	chr7:100661044-100661055 chr7:100660968-100660979 chr7:100661025-100661036
11	BATF	chr7:100660816-100661103	GM12878	blood:	n/a	n/a
12	RCOR1	chr7:100660268-100661097	K562	blood:	n/a	n/a
13	POLR2A	chr7:100660647-100660945	ProgFib	skin:	n/a	n/a
14	MAFK	chr7:100660324-100660974	HepG2	liver:	n/a	n/a
15	MAFK	chr7:100660825-100660992	HepG2	liver:	n/a	n/a
16	ELF1	chr7:100659802-100661122	GM12878	blood:	n/a	chr7:100660411-100660422
17	GABPA	chr7:100660707-100661175	MCF-7	breast:	n/a	n/a
18	FOSL1	chr7:100660780-100661071	K562	blood:	n/a	chr7:100660945-100660953 chr7:100660943-100660954
19	RFX5	chr7:100660141-100661239	IMR90	lung:	n/a	chr7:100660492-100660506
20	FOXA2	chr7:100660566-100661141	A549	lung:	n/a	n/a
21	POLR2A	chr7:100659986-100661148	GM12878	blood:	n/a	n/a
22	JUN	chr7:100660204-100661217	K562	blood:	n/a	chr7:100660945-100660953
23	EGR1	chr7:100660784-100661169	H1-hESC	embryonic stem cell:	n/a	chr7:100660960-100660973 chr7:100660963-100660977 chr7:100660960-100660970 chr7:100660986-100660995
24	PML	chr7:100660721-100660883	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:100659947-100661073	GM19193	blood:	n/a	n/a
26	MTA3	chr7:100660329-100661186	GM12878	blood:	n/a	n/a
27	ELK1	chr7:100660799-100661044	K562	blood:	n/a	n/a
28	CUX1	chr7:100660737-100661147	GM12878	blood:	n/a	n/a
29	REST	chr7:100660625-100661056	A549	lung:	n/a	n/a
30	FOS	chr7:100660807-100661079	MCF10A-Er-Src	breast:	n/a	chr7:100660943-100660954 chr7:100660945-100660953
31	BHLHE40	chr7:100660484-100661125	GM12878	blood:	n/a	n/a
32	ZNF263	chr7:100660000-100661038	K562	blood:	n/a	chr7:100660149-100660158 chr7:100660791-100660812
33	TCF12	chr7:100660678-100661051	A549	lung:	n/a	n/a
34	JUND	chr7:100660671-100661161	A549	lung:	n/a	chr7:100660943-100660954 chr7:100660945-100660953
35	POLR2A	chr7:100659915-100661066	GM19099	blood:	n/a	n/a
36	JUND	chr7:100660722-100661080	HepG2	liver:	n/a	chr7:100660943-100660954 chr7:100660945-100660953
37	JUN	chr7:100660487-100661123	K562	blood:	n/a	chr7:100660945-100660953
38	NFATC1	chr7:100660673-100661076	GM12878	blood:	n/a	n/a
39	STAT1	chr7:100660508-100661068	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:100660442-100661090	K562	blood:	n/a	n/a
41	POLR2A	chr7:100660788-100661083	K562	blood:	n/a	n/a
42	SPI1	chr7:100660819-100661121	K562	blood:	n/a	chr7:100660988-100660995
43	MAX	chr7:100660788-100660979	K562	blood:	n/a	n/a
44	MAZ	chr7:100660541-100661130	K562	blood:	n/a	n/a
45	MXI1	chr7:100660294-100661027	GM12878	blood:	n/a	n/a
46	UBTF	chr7:100660837-100660989	K562	blood:	n/a	n/a
47	GABPA	chr7:100660336-100661112	A549	lung:	n/a	n/a
48	MYC	chr7:100660809-100661038	NB4	blood:	n/a	n/a
49	ELF1	chr7:100660784-100661048	HepG2	liver:	n/a	n/a
50	BHLHE40	chr7:100660843-100660996	HepG2	liver:	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-VGF-1	chr7:100660696-100660889	ENSG00000227053.1
2	lnc-VGF-1	chr7:100660696-100660882	ENSG00000227053.1
3	lnc-MUC17-1	chr7:100660615-100660944	NONHSAT122439

Variant related genes	Relation type
MUC17	TF binding region
ENSG00000176125	Chromatin interaction
ENSG00000169894	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:117 , 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	chr7:100659800-100661000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:100659800-100661000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:100659800-100661000	Flanking Active TSS	GM12878-XiMat	blood
9	chr7:100659800-100661000	Active TSS	HSMM	muscle
10	chr7:100659800-100661000	Active TSS	NHLF	lung
11	chr7:100659800-100661200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
12	chr7:100659800-100661200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr7:100659800-100661200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:100659800-100662000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr7:100659800-100662000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:100660000-100661000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:100660000-100661000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:100660000-100661000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:100660000-100661000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:100660000-100661000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:100660000-100661000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr7:100660000-100661000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:100660000-100661000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:100660000-100661000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:100660000-100661000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:100660000-100661000	Active TSS	Brain Angular Gyrus	brain
27	chr7:100660000-100661000	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr7:100660000-100661000	Flanking Active TSS	Fetal Brain Female	brain
29	chr7:100660000-100661000	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr7:100660000-100661000	Bivalent Enhancer	Fetal Lung	lung
31	chr7:100660000-100661000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr7:100660000-100661000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
33	chr7:100660000-100661000	Active TSS	Placenta Amnion	Placenta Amnion
34	chr7:100660000-100661000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
35	chr7:100660000-100661000	Flanking Active TSS	HMEC	breast
36	chr7:100660000-100661000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
37	chr7:100660000-100661000	Flanking Active TSS	NH-A	brain
38	chr7:100660000-100661000	Flanking Active TSS	Osteobl	bone
39	chr7:100660000-100661200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr7:100660000-100661200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:100660000-100661200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:100660000-100661200	Enhancers	Fetal Brain Male	brain
43	chr7:100660000-100662000	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr7:100660200-100661000	Active TSS	H1 Cell Line	embryonic stem cell
45	chr7:100660200-100661000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:100660200-100661000	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr7:100660200-100661000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:100660200-100661000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
49	chr7:100660200-100661000	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr7:100660200-100661000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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