Variant report

Variant	rs530045510
Chromosome Location	chr7:87143400-87143401
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv1828294	chr7:86857553-87147397	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1026153	chr7:86905796-87258822	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv888691	chr7:87141814-87157051	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87132600-87151400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:87132800-87153400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:87133400-87164400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:87133600-87149600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:87134400-87150200	Strong transcription	Primary T cells from cord blood	blood
6	chr7:87134800-87144800	Strong transcription	Placenta	Placenta
7	chr7:87135400-87145200	Weak transcription	Spleen	Spleen
8	chr7:87135400-87198000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:87137200-87144000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:87137200-87147400	Strong transcription	Liver	Liver
11	chr7:87138400-87173400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr7:87138800-87144000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:87138800-87144600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:87138800-87145800	Weak transcription	Fetal Intestine Large	intestine
15	chr7:87138800-87160600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:87138800-87185000	Weak transcription	Primary B cells from cord blood	blood
17	chr7:87139400-87211000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:87139600-87197800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr7:87139800-87143400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:87139800-87144200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:87141400-87144200	Weak transcription	HepG2	liver
22	chr7:87141600-87144600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:87141800-87172800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:87142000-87143800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:87142000-87144800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:87142200-87144600	Strong transcription	Primary hematopoietic stem cells	blood
27	chr7:87142400-87143400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:87142400-87143400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:87142400-87144000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:87142400-87144400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:87142400-87146000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:87142600-87143400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:87142800-87143400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr7:87143000-87143800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:87143400-87143600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr7:87143400-87144600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:87143400-87144800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:87143400-87144800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr7:87143400-87145000	Strong transcription	Primary T cells fromperipheralblood	blood

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