Variant report

Variant	rs375139797
Chromosome Location	chr7:4998227-4998228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv1019120	chr7:4929653-5138409	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	nsv917078	chr7:4962123-5151633	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
19	esv3436552	chr7:4997451-5000999	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3425591	chr7:4998176-5000974	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4997200-4998800	Active TSS	Brain Anterior Caudate	brain
2	chr7:4997400-4998400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:4997400-4998800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:4997600-4998400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:4997600-4998400	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr7:4997600-4998600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
7	chr7:4997600-4999200	Bivalent/Poised TSS	Psoas Muscle	Psoas
8	chr7:4997800-4998800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:4997800-4998800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:4997800-4998800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
11	chr7:4998000-4998400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr7:4998000-4998400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr7:4998000-4998400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:4998000-4998400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:4998000-4998400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:4998000-4998400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:4998000-4998400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
18	chr7:4998000-4998400	Flanking Active TSS	Brain Angular Gyrus	brain
19	chr7:4998000-4998400	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr7:4998000-4998400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
21	chr7:4998000-4998600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr7:4998000-4998800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr7:4998000-4998800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr7:4998000-4998800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr7:4998000-4999200	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr7:4998200-4998400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:4998200-4998400	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:4998200-4998400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:4998200-4998400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:4998200-4998400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:4998200-4998400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:4998200-4998400	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr7:4998200-4998400	Bivalent Enhancer	Aorta	Aorta
34	chr7:4998200-4998400	Bivalent Enhancer	Liver	Liver
35	chr7:4998200-4998400	Flanking Active TSS	Fetal Brain Male	brain
36	chr7:4998200-4998400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
37	chr7:4998200-4998400	Bivalent Enhancer	Fetal Intestine Large	intestine
38	chr7:4998200-4998400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr7:4998200-4998400	Bivalent Enhancer	Fetal Stomach	stomach
40	chr7:4998200-4998400	Flanking Active TSS	Pancreas	Pancrea
41	chr7:4998200-4998400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
42	chr7:4998200-4998400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
43	chr7:4998200-4998400	Flanking Active TSS	Right Atrium	heart
44	chr7:4998200-4998400	Bivalent Enhancer	Right Ventricle	heart
45	chr7:4998200-4998400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr7:4998200-4998400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
47	chr7:4998200-4998400	Flanking Bivalent TSS/Enh	Spleen	Spleen
48	chr7:4998200-4998600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:4998200-4998600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
50	chr7:4998200-4998600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--

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