Variant report

Variant	rs374822834
Chromosome Location	chr7:100660284-100660285
allele	-/C
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	MAX	chr7:100660054-100660382	GM12878	blood:	n/a	chr7:100660284-100660294
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	RCOR1	chr7:100660268-100661097	K562	blood:	n/a	n/a
6	ELF1	chr7:100659802-100661122	GM12878	blood:	n/a	chr7:100660411-100660422
7	RFX5	chr7:100660141-100661239	IMR90	lung:	n/a	chr7:100660492-100660506
8	POLR2A	chr7:100659986-100661148	GM12878	blood:	n/a	n/a
9	JUN	chr7:100660204-100661217	K562	blood:	n/a	chr7:100660945-100660953
10	POLR2A	chr7:100659947-100661073	GM19193	blood:	n/a	n/a
11	ZNF263	chr7:100660000-100661038	K562	blood:	n/a	chr7:100660149-100660158 chr7:100660791-100660812
12	POLR2A	chr7:100659915-100661066	GM19099	blood:	n/a	n/a
13	SIN3A	chr7:100659980-100660985	H1-hESC	embryonic stem cell:	n/a	chr7:100660369-100660382
14	POLR2A	chr7:100659891-100661221	GM12892	blood:	n/a	n/a
15	TAF1	chr7:100660240-100660943	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZNF263	chr7:100660145-100660964	HEK293-T-REx	kidney:	n/a	chr7:100660149-100660158 chr7:100660791-100660812
17	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
18	POLR2A	chr7:100659968-100661057	H1-hESC	embryonic stem cell:	n/a	n/a
19	ELF1	chr7:100660190-100661197	GM12878	blood:	n/a	chr7:100660411-100660422
20	POLR2A	chr7:100659996-100661084	GM12878	blood:	n/a	n/a
21	MAZ	chr7:100659685-100661326	IMR90	lung:	n/a	chr7:100660284-100660294
22	POLR2A	chr7:100660274-100661178	GM12878	blood:	n/a	n/a
23	TEAD4	chr7:100660206-100661094	K562	blood:	n/a	n/a
24	POLR2A	chr7:100659929-100661122	GM12878	blood:	n/a	n/a
25	RELA	chr7:100659944-100661132	GM12891	blood:	n/a	n/a
26	ELF1	chr7:100660266-100660564	HepG2	liver:	n/a	chr7:100660411-100660422
27	CBX3	chr7:100660230-100661139	K562	blood:	n/a	n/a
28	RELA	chr7:100659882-100661143	GM18951	blood:	n/a	n/a
29	ELF1	chr7:100660184-100660622	A549	lung:	n/a	chr7:100660411-100660422
30	GABPA	chr7:100660218-100661128	K562	blood:	n/a	n/a
31	ELF1	chr7:100660214-100661119	A549	lung:	n/a	chr7:100660411-100660422
32	MAX	chr7:100660112-100661124	A549	lung:	n/a	chr7:100660284-100660294
33	HDAC2	chr7:100660242-100661125	MCF-7	breast:	n/a	n/a
34	EBF1	chr7:100660278-100662527	GM12878	blood:	n/a	chr7:100661044-100661055 chr7:100660968-100660979 chr7:100661025-100661036
35	ELF1	chr7:100659915-100661100	K562	blood:	n/a	chr7:100660411-100660422
36	NR2F2	chr7:100660213-100661104	MCF-7	breast:	n/a	n/a
37	ELF1	chr7:100660144-100661137	MCF-7	breast:	n/a	chr7:100660411-100660422
38	CTBP2	chr7:100659966-100661045	H1-hESC	embryonic stem cell:	n/a	n/a
39	MTA3	chr7:100660120-100660412	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:100659944-100661288	GM12878	blood:	n/a	n/a
41	REST	chr7:100660206-100661117	A549	lung:	n/a	chr7:100660369-100660382 chr7:100660366-100660379
42	CHD1	chr7:100659894-100661148	IMR90	lung:	n/a	n/a
43	ZBTB7A	chr7:100659896-100661133	K562	blood:	n/a	n/a
44	TCF12	chr7:100660100-100661140	A549	lung:	n/a	n/a
45	BCL3	chr7:100660242-100661162	A549	lung:	n/a	n/a
46	POLR2A	chr7:100659841-100661067	IMR90	lung:	n/a	n/a
47	MAX	chr7:100660284-100661101	K562	blood:	n/a	chr7:100660284-100660294
48	POLR2A	chr7:100660252-100660442	H1-hESC	embryonic stem cell:	n/a	n/a
49	ELF1	chr7:100659807-100661135	K562	blood:	n/a	chr7:100660411-100660422
50	NR2F2	chr7:100660149-100661037	K562	blood:	n/a	n/a

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

Variant related genes	Relation type
MUC12	TF binding region
MUC17	TF binding region
ENSG00000169894	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000225946	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100659000-100661000	Enhancers	Spleen	Spleen
2	chr7:100659600-100660600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr7:100659600-100661000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr7:100659600-100661200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:100659600-100661200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:100659600-100662000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:100659800-100660400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr7:100659800-100660400	Bivalent Enhancer	HepG2	liver
9	chr7:100659800-100660800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
10	chr7:100659800-100661000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:100659800-100661000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:100659800-100661000	Flanking Active TSS	GM12878-XiMat	blood
13	chr7:100659800-100661000	Active TSS	HSMM	muscle
14	chr7:100659800-100661000	Active TSS	NHLF	lung
15	chr7:100659800-100661200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr7:100659800-100661200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr7:100659800-100661200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:100659800-100662000	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr7:100659800-100662000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:100660000-100660400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:100660000-100660400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:100660000-100660400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:100660000-100660400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:100660000-100660400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:100660000-100660400	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr7:100660000-100660400	Bivalent Enhancer	Placenta	Placenta
27	chr7:100660000-100660400	Enhancers	Lung	lung
28	chr7:100660000-100660400	Enhancers	Pancreas	Pancrea
29	chr7:100660000-100660400	Flanking Active TSS	NHDF-Ad	bronchial
30	chr7:100660000-100660600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr7:100660000-100660600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:100660000-100660600	Active TSS	Brain Anterior Caudate	brain
33	chr7:100660000-100660600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
34	chr7:100660000-100660800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:100660000-100660800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr7:100660000-100660800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:100660000-100660800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:100660000-100660800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
39	chr7:100660000-100660800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr7:100660000-100660800	Flanking Active TSS	A549	lung
41	chr7:100660000-100660800	Enhancers	HUVEC	blood vessel
42	chr7:100660000-100660800	Flanking Active TSS	K562	blood
43	chr7:100660000-100661000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:100660000-100661000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:100660000-100661000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:100660000-100661000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:100660000-100661000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:100660000-100661000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr7:100660000-100661000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:100660000-100661000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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