Variant report

Variant	rs550596342
Chromosome Location	chr7:56088447-56088448
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats 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 target site	84 gene(s)	inside rSNPs	diseases
5	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats 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 target site	71 gene(s)	inside rSNPs	diseases
9	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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 target site	39 gene(s)	inside rSNPs	diseases
10	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv1034826	chr7:55962159-56092835	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv1033225	chr7:55962159-56094540	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv1017793	chr7:56051267-56098030	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
16	nsv966929	chr7:56085012-56094574	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv824111	chr7:56087204-56089151	Strong transcription Weak transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
18	nsv819501	chr7:56087209-56089181	Weak transcription Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
19	nsv824112	chr7:56087213-56089499	Weak transcription Genic enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
20	nsv824113	chr7:56087221-56089499	Strong transcription Weak transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
21	nsv824114	chr7:56087283-56088984	Weak transcription Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
22	nsv824115	chr7:56087283-56089499	Weak transcription Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
23	nsv824116	chr7:56087313-56088984	Strong transcription Weak transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
24	nsv824117	chr7:56087367-56089151	Strong transcription Weak transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
25	esv17341	chr7:56087431-56089032	Strong transcription Weak transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
26	nsv824118	chr7:56087470-56089499	Strong transcription Weak transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
27	nsv824119	chr7:56088201-56089499	Strong transcription Weak transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
28	nsv824121	chr7:56088406-56089499	Strong transcription Weak transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
29	nsv824122	chr7:56088425-56088984	Strong transcription Weak transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56049200-56101600	Weak transcription	Small Intestine	intestine
2	chr7:56060600-56099600	Weak transcription	HUVEC	blood vessel
3	chr7:56063400-56089600	Weak transcription	NHDF-Ad	bronchial
4	chr7:56063400-56096800	Weak transcription	NH-A	brain
5	chr7:56063600-56101000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:56063600-56101200	Weak transcription	NHLF	lung
7	chr7:56064400-56101400	Weak transcription	Gastric	stomach
8	chr7:56065000-56101400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:56065000-56101400	Weak transcription	Colonic Mucosa	Colon
10	chr7:56065400-56101400	Weak transcription	Fetal Brain Male	brain
11	chr7:56065800-56095800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:56067000-56088600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:56067200-56101400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:56067400-56100800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:56067800-56099600	Weak transcription	K562	blood
16	chr7:56068200-56101200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:56075400-56101400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:56077600-56089200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:56077800-56099600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:56077800-56100600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:56078200-56089200	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr7:56078200-56089200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:56078200-56091000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:56078200-56091200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:56078200-56099800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:56078200-56101200	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:56078400-56089000	Strong transcription	Dnd41	blood
28	chr7:56078400-56091200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:56078400-56094400	Weak transcription	HMEC	breast
30	chr7:56081600-56097000	Weak transcription	Placenta	Placenta
31	chr7:56082200-56101200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr7:56082600-56101200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:56083200-56092800	Weak transcription	HSMM	muscle
34	chr7:56083400-56088600	Weak transcription	GM12878-XiMat	blood
35	chr7:56083600-56096800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:56084600-56089000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr7:56084600-56089400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:56084600-56089400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:56084800-56089000	Strong transcription	Liver	Liver
40	chr7:56085000-56089000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:56085200-56089800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr7:56085400-56088600	Genic enhancers	Fetal Intestine Large	intestine
43	chr7:56085400-56089200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:56085600-56089000	Strong transcription	Left Ventricle	heart
45	chr7:56085600-56094400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:56085800-56089000	Strong transcription	Right Ventricle	heart
47	chr7:56085800-56089200	Strong transcription	NHEK	skin
48	chr7:56085800-56089400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:56086000-56089000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:56086000-56089000	Strong transcription	Primary monocytes fromperipheralblood	blood

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