Variant report

Variant	rs533373646
Chromosome Location	chr7:4901986-4901987
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats 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
5	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription 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	24 gene(s)	inside rSNPs	diseases
7	nsv823994	chr7:4792385-4928328	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv528748	chr7:4820581-5010993	Enhancers Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1029123	chr7:4821734-4919277	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers 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 miRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1021170	chr7:4831361-5058033	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv538706	chr7:4831361-5058033	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1025467	chr7:4850447-5021443	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv605979	chr7:4854592-4944514	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv1021999	chr7:4862082-5003190	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv538707	chr7:4862082-5003190	Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1033855	chr7:4862677-5069764	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv605980	chr7:4876057-5003373	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
22	nsv970439	chr7:4901682-4908069	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4900400-4902200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:4900800-4902000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr7:4900800-4902200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:4901000-4902000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:4901000-4902000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr7:4901000-4902000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
7	chr7:4901000-4902000	Active TSS	Brain Anterior Caudate	brain
8	chr7:4901000-4902000	Active TSS	Fetal Kidney	kidney
9	chr7:4901000-4902200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:4901000-4902200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr7:4901000-4902200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
12	chr7:4901000-4902200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:4901200-4902000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:4901200-4902000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
15	chr7:4901200-4902000	Active TSS	Brain Angular Gyrus	brain
16	chr7:4901200-4902000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
17	chr7:4901200-4902000	ZNF genes & repeats	Colon Smooth Muscle	Colon
18	chr7:4901200-4902000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr7:4901200-4902000	Bivalent/Poised TSS	Psoas Muscle	Psoas
20	chr7:4901200-4902000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr7:4901200-4902000	Active TSS	Right Ventricle	heart
22	chr7:4901200-4902000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
23	chr7:4901200-4902000	ZNF genes & repeats	Spleen	Spleen
24	chr7:4901200-4902000	ZNF genes & repeats	HSMMtube	muscle
25	chr7:4901200-4902200	ZNF genes & repeats	Lung	lung
26	chr7:4901200-4902200	Active TSS	Rectal Smooth Muscle	rectum
27	chr7:4901400-4902000	Active TSS	H9 Cell Line	embryonic stem cell
28	chr7:4901400-4902000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:4901400-4902000	ZNF genes & repeats	HSMM	muscle
30	chr7:4901400-4902200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr7:4901600-4902000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr7:4901600-4902000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:4901600-4902000	Enhancers	Fetal Brain Male	brain
34	chr7:4901600-4902000	ZNF genes & repeats	Ovary	ovary
35	chr7:4901800-4902000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr7:4901800-4902000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:4901800-4902000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
38	chr7:4901800-4902000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
39	chr7:4901800-4902000	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr7:4901800-4902000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
41	chr7:4901800-4902000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:4901800-4902000	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
43	chr7:4901800-4902000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:4901800-4902000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:4901800-4902000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
46	chr7:4901800-4902000	Flanking Bivalent TSS/Enh	Liver	Liver
47	chr7:4901800-4902000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
48	chr7:4901800-4902000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr7:4901800-4902000	ZNF genes & repeats	Fetal Brain Female	brain
50	chr7:4901800-4902000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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