Variant report

Variant	rs575672517
Chromosome Location	chr7:66622405-66622406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv831019	chr7:66516808-66720485	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases
5	esv1802655	chr7:66576034-66634666	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
6	esv1816643	chr7:66576034-66634666	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
7	esv1840497	chr7:66576034-66634666	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
8	esv1851064	chr7:66576034-66634666	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
9	esv1850306	chr7:66601324-66632583	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
10	esv1832033	chr7:66601324-66637001	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
11	esv1822512	chr7:66613751-66637001	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
12	esv1826252	chr7:66613751-66637001	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
13	esv1810114	chr7:66621964-66636410	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases
14	esv2422035	chr7:66621964-66676630	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66533800-66623200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:66550000-66624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:66584400-66624400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:66585000-66623600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:66585200-66627200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:66591600-66626400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:66594200-66623800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:66594800-66623000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:66594800-66626800	Weak transcription	Dnd41	blood
10	chr7:66595000-66627400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:66600400-66623400	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:66600800-66625000	Weak transcription	Left Ventricle	heart
13	chr7:66603200-66626600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:66604600-66624000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:66608800-66628200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:66608800-66632600	Weak transcription	Ovary	ovary
17	chr7:66609800-66624400	Weak transcription	Liver	Liver
18	chr7:66612400-66627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:66613200-66626400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:66614200-66628000	Weak transcription	K562	blood
21	chr7:66616000-66626800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:66617200-66628200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:66617200-66628400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr7:66617400-66627400	Weak transcription	Primary T cells from cord blood	blood
25	chr7:66618000-66623200	Weak transcription	Lung	lung
26	chr7:66619400-66627600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr7:66619600-66626800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:66619600-66628000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr7:66619800-66623000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:66620200-66622600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:66620200-66623400	Strong transcription	Fetal Intestine Small	intestine
32	chr7:66620600-66622600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:66620600-66622800	Weak transcription	Primary B cells from cord blood	blood
34	chr7:66620600-66623200	Weak transcription	Gastric	stomach
35	chr7:66620600-66631000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:66620800-66628400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:66621000-66628200	Weak transcription	Thymus	Thymus
38	chr7:66621200-66622800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:66621400-66628200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:66621400-66631400	Weak transcription	Adipose Nuclei	Adipose
41	chr7:66621600-66623000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:66621600-66625000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:66621600-66628400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:66621600-66672000	Weak transcription	Fetal Intestine Large	intestine
45	chr7:66621800-66627200	Weak transcription	Fetal Stomach	stomach
46	chr7:66621800-66628200	Weak transcription	Primary B cells from peripheral blood	blood

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