Variant report

Variant	rs370322511
Chromosome Location	chr7:100661009-100661010
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	ATF3	chr7:100660660-100661103	A549	lung:	n/a	n/a
2	MAFK	chr7:100660900-100661080	H1-hESC	embryonic stem cell:	n/a	n/a
3	SPI1	chr7:100660789-100661058	K562	blood:	n/a	chr7:100660988-100660995
4	ATF3	chr7:100660850-100661016	K562	blood:	n/a	n/a
5	JUND	chr7:100660730-100661104	H1-hESC	embryonic stem cell:	n/a	chr7:100660943-100660954 chr7:100660945-100660953
6	YY1	chr7:100660276-100661061	K562	blood:	n/a	n/a
7	MTA3	chr7:100660774-100661055	GM12878	blood:	n/a	n/a
8	EP300	chr7:100660040-100661082	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:100660033-100661070	GM18505	blood:	n/a	n/a
10	EBF1	chr7:100660694-100661915	GM12878	blood:	n/a	chr7:100661044-100661055 chr7:100660968-100660979 chr7:100661025-100661036
11	EBF1	chr7:100660677-100661945	GM12878	blood:	n/a	chr7:100661044-100661055 chr7:100660968-100660979 chr7:100661025-100661036
12	BATF	chr7:100660816-100661103	GM12878	blood:	n/a	n/a
13	EP300	chr7:100660862-100661013	HepG2	liver:	n/a	n/a
14	RCOR1	chr7:100660268-100661097	K562	blood:	n/a	n/a
15	ELF1	chr7:100659802-100661122	GM12878	blood:	n/a	chr7:100660411-100660422
16	GABPA	chr7:100660707-100661175	MCF-7	breast:	n/a	n/a
17	FOSL1	chr7:100660780-100661071	K562	blood:	n/a	chr7:100660945-100660953 chr7:100660943-100660954
18	RFX5	chr7:100660141-100661239	IMR90	lung:	n/a	chr7:100660492-100660506
19	FOXA2	chr7:100660566-100661141	A549	lung:	n/a	n/a
20	POLR2A	chr7:100659986-100661148	GM12878	blood:	n/a	n/a
21	JUN	chr7:100660204-100661217	K562	blood:	n/a	chr7:100660945-100660953
22	EGR1	chr7:100660784-100661169	H1-hESC	embryonic stem cell:	n/a	chr7:100660960-100660973 chr7:100660963-100660977 chr7:100660960-100660970 chr7:100660986-100660995
23	POLR2A	chr7:100659947-100661073	GM19193	blood:	n/a	n/a
24	MTA3	chr7:100660329-100661186	GM12878	blood:	n/a	n/a
25	ELK1	chr7:100660799-100661044	K562	blood:	n/a	n/a
26	CUX1	chr7:100660737-100661147	GM12878	blood:	n/a	n/a
27	REST	chr7:100660625-100661056	A549	lung:	n/a	n/a
28	FOS	chr7:100660807-100661079	MCF10A-Er-Src	breast:	n/a	chr7:100660943-100660954 chr7:100660945-100660953
29	BHLHE40	chr7:100660484-100661125	GM12878	blood:	n/a	n/a
30	PAX5	chr7:100660856-100661050	GM12878	blood:	n/a	chr7:100660986-100660995
31	ZNF263	chr7:100660000-100661038	K562	blood:	n/a	chr7:100660149-100660158 chr7:100660791-100660812
32	TCF12	chr7:100660678-100661051	A549	lung:	n/a	n/a
33	JUND	chr7:100660671-100661161	A549	lung:	n/a	chr7:100660943-100660954 chr7:100660945-100660953
34	POLR2A	chr7:100659915-100661066	GM19099	blood:	n/a	n/a
35	JUND	chr7:100660722-100661080	HepG2	liver:	n/a	chr7:100660943-100660954 chr7:100660945-100660953
36	JUN	chr7:100660487-100661123	K562	blood:	n/a	chr7:100660945-100660953
37	NFATC1	chr7:100660673-100661076	GM12878	blood:	n/a	n/a
38	STAT1	chr7:100660508-100661068	GM12878	blood:	n/a	n/a
39	POLR2A	chr7:100660442-100661090	K562	blood:	n/a	n/a
40	POLR2A	chr7:100660788-100661083	K562	blood:	n/a	n/a
41	SPI1	chr7:100660819-100661121	K562	blood:	n/a	chr7:100660988-100660995
42	MAZ	chr7:100660541-100661130	K562	blood:	n/a	n/a
43	MXI1	chr7:100660294-100661027	GM12878	blood:	n/a	n/a
44	GABPA	chr7:100660336-100661112	A549	lung:	n/a	n/a
45	MYC	chr7:100660809-100661038	NB4	blood:	n/a	n/a
46	ELF1	chr7:100660784-100661048	HepG2	liver:	n/a	n/a
47	ATF2	chr7:100660727-100661099	GM12878	blood:	n/a	n/a
48	RCOR1	chr7:100660470-100661056	GM12878	blood:	n/a	n/a
49	BCL3	chr7:100660552-100661086	A549	lung:	n/a	n/a
50	POLR2A	chr7:100660580-100661115	PANC-1	pancreas:	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:

Variant related genes	Relation type
MUC17	TF binding region
ENSG00000227053	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100659600-100661200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:100659600-100661200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:100659600-100662000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:100659800-100661200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
5	chr7:100659800-100661200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr7:100659800-100661200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:100659800-100662000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:100659800-100662000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:100660000-100661200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr7:100660000-100661200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:100660000-100661200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:100660000-100661200	Enhancers	Fetal Brain Male	brain
13	chr7:100660000-100662000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr7:100660200-100661200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:100660200-100661200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:100660200-100661200	Active TSS	Thymus	Thymus
17	chr7:100660200-100662000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr7:100660400-100661800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:100660400-100661800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:100660600-100661200	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr7:100660600-100661200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr7:100660600-100661200	Flanking Active TSS	HepG2	liver
23	chr7:100660600-100662200	Enhancers	Small Intestine	intestine
24	chr7:100660800-100661200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:100660800-100661200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:100660800-100661200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:100660800-100661200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr7:100660800-100661200	Bivalent Enhancer	Placenta	Placenta
29	chr7:100660800-100661200	Enhancers	Lung	lung
30	chr7:100660800-100661200	Active TSS	A549	lung
31	chr7:100661000-100661200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:100661000-100661200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:100661000-100661200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:100661000-100661200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:100661000-100661200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:100661000-100661200	Enhancers	Primary T cells from cord blood	blood
37	chr7:100661000-100661200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr7:100661000-100661200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:100661000-100661200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr7:100661000-100661200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:100661000-100661200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:100661000-100661200	Enhancers	Duodenum Mucosa	Duodenum
43	chr7:100661000-100661200	Enhancers	Fetal Brain Female	brain
44	chr7:100661000-100661200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr7:100661000-100661200	Bivalent Enhancer	Fetal Stomach	stomach
46	chr7:100661000-100661200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
47	chr7:100661000-100661200	Active TSS	NH-A	brain
48	chr7:100661000-100661800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:100661000-100661800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr7:100661000-100661800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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