Variant report

Variant	rs565131041
Chromosome Location	chr8:48956723-48956724
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats 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	17 gene(s)	inside rSNPs	diseases
6	nsv1033760	chr8:48852925-48961374	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv968508	chr8:48924846-48957474	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv890850	chr8:48954143-49018790	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv890851	chr8:48954143-49031082	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1793797	chr8:48955683-48992093	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48921600-48957400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:48921800-48957400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:48921800-48957400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:48921800-48957400	Weak transcription	Stomach Mucosa	stomach
5	chr8:48921800-48960600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:48921800-48966800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:48922000-48957600	Weak transcription	Colonic Mucosa	Colon
8	chr8:48922400-48957800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:48922400-48958000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:48922400-48975400	Weak transcription	Fetal Brain Male	brain
11	chr8:48922600-48956800	Weak transcription	NHLF	lung
12	chr8:48922600-48957800	Weak transcription	HUVEC	blood vessel
13	chr8:48925000-48957600	Weak transcription	HSMMtube	muscle
14	chr8:48932800-48957200	Weak transcription	Spleen	Spleen
15	chr8:48933000-48956800	Weak transcription	Gastric	stomach
16	chr8:48935000-48957000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:48935000-48957400	Weak transcription	NHEK	skin
18	chr8:48935200-48963000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:48935400-48956800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:48937800-48957400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:48942800-48957400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:48943800-48956800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:48945600-48957400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:48947600-48956800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:48948200-48956800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:48949400-48956800	Weak transcription	Fetal Intestine Small	intestine
27	chr8:48949800-48963200	Weak transcription	Brain Substantia Nigra	brain
28	chr8:48953200-48983400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:48953800-48974800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:48954200-48965800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:48954400-48958800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:48954400-48959200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:48954400-48960600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:48954400-48961000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:48954400-48967000	Strong transcription	Placenta	Placenta
36	chr8:48954600-48957400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:48954600-48966000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:48954600-48975200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:48954600-48975600	Weak transcription	Pancreas	Pancrea
40	chr8:48954800-48958400	Strong transcription	Primary B cells from cord blood	blood
41	chr8:48954800-48958400	Strong transcription	Hela-S3	cervix
42	chr8:48954800-48958600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:48954800-48966000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr8:48954800-48971800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:48954800-48975800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr8:48955000-48965800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr8:48955000-48975000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:48955200-48957600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr8:48955200-48964400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr8:48955200-48965800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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