Variant report

Variant	rs111845130
Chromosome Location	chr7:64030542-64030543
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	USF1	chr7:64030533-64030721	SK-N-SH_RA	brain:	n/a	chr7:64030632-64030643
2	USF1	chr7:64030532-64030730	HepG2	liver:	n/a	chr7:64030632-64030643
3	USF1	chr7:64030527-64030758	ECC-1	luminal epithelium:	n/a	chr7:64030632-64030643

Variant related genes	Relation type
ENSG00000235349	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429759	chr7:63662150-64110550	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv429760	chr7:63687850-64110550	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv429761	chr7:63747498-64096138	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
7	nsv429762	chr7:63790450-64110550	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
9	nsv1031703	chr7:63839601-64225952	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
10	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	nsv1023042	chr7:63956027-64116232	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
14	nsv888273	chr7:63990100-64291622	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
15	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
16	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
17	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
18	nsv1021893	chr7:63995601-64155027	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
19	nsv538892	chr7:63995601-64155027	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
20	nsv888277	chr7:64023581-64054804	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv3321696	chr7:64029742-64032290	Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64029400-64030800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:64029400-64030800	Active TSS	Brain Anterior Caudate	brain
3	chr7:64029400-64031200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:64029600-64030600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr7:64029600-64030600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:64029600-64030600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
7	chr7:64029600-64030600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:64029600-64030600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:64029600-64030600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
10	chr7:64029600-64030800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:64029600-64030800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr7:64029600-64030800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
13	chr7:64029600-64030800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr7:64029600-64030800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:64029600-64030800	Active TSS	Brain Substantia Nigra	brain
16	chr7:64029600-64030800	Active TSS	Colon Smooth Muscle	Colon
17	chr7:64029600-64030800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr7:64029600-64030800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
19	chr7:64029600-64030800	Active TSS	Rectal Smooth Muscle	rectum
20	chr7:64029600-64031000	Active TSS	Right Ventricle	heart
21	chr7:64029600-64031200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr7:64029600-64031200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr7:64029800-64030600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:64029800-64030600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr7:64029800-64030600	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr7:64029800-64030600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:64029800-64030600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:64029800-64030600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:64029800-64030600	Active TSS	Esophagus	oesophagus
30	chr7:64029800-64030600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr7:64029800-64030600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr7:64029800-64030600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
33	chr7:64029800-64030600	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr7:64029800-64030600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
35	chr7:64029800-64030600	Flanking Bivalent TSS/Enh	Thymus	Thymus
36	chr7:64029800-64030600	Flanking Bivalent TSS/Enh	HMEC	breast
37	chr7:64029800-64030600	Bivalent/Poised TSS	HUVEC	blood vessel
38	chr7:64029800-64030800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:64029800-64030800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
40	chr7:64029800-64030800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
41	chr7:64029800-64030800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:64029800-64030800	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr7:64029800-64030800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:64029800-64030800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr7:64029800-64030800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:64029800-64030800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:64029800-64030800	Active TSS	Brain Cingulate Gyrus	brain
48	chr7:64029800-64030800	Flanking Active TSS	Pancreas	Pancrea
49	chr7:64029800-64030800	Active TSS	Placenta Amnion	Placenta Amnion
50	chr7:64029800-64030800	Active TSS	Rectal Mucosa Donor 29	rectum

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