Variant report

Variant	rs7838899
Chromosome Location	chr8:42933483-42933484
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42697703..42700413-chr8:42933031..42935658,2	K562	blood:
2	chr8:42910668..42913653-chr8:42931061..42934093,3	K562	blood:

Variant related genes	Relation type
ENSG00000131931	Chromatin interaction
ENSG00000168522	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10958736	0.91[AMR][1000 genomes]
rs1648121	0.87[AMR][1000 genomes]
rs2692077	0.83[AMR][1000 genomes]
rs28626408	0.91[AMR][1000 genomes]
rs4294230	0.91[AMR][1000 genomes]
rs6474429	0.89[AMR][1000 genomes]
rs7001861	0.81[ASN][1000 genomes]
rs7463608	0.89[AMR][1000 genomes]
rs773068	0.87[AMR][1000 genomes]
rs773069	0.82[AMR][1000 genomes]
rs773071	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS 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	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1025336	chr8:42905623-43333638	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
13	nsv539564	chr8:42905623-43333638	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
14	nsv831302	chr8:42909483-43105520	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv1029380	chr8:42924737-43729296	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
16	nsv539565	chr8:42924737-43729296	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42912800-42936000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:42912800-42936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:42912800-42943800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:42912800-42948000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:42913000-42941200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:42913600-42940600	Weak transcription	Small Intestine	intestine
7	chr8:42914400-42942000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr8:42914400-42942800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:42914400-42947800	Weak transcription	Stomach Mucosa	stomach
10	chr8:42914800-42934800	Weak transcription	Fetal Heart	heart
11	chr8:42914800-42942800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:42915200-42942000	Strong transcription	Fetal Intestine Large	intestine
13	chr8:42915400-42947200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:42915600-42935000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:42916200-42941600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr8:42916200-42942000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:42916400-42941600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:42916400-42942200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:42916800-42937000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:42916800-42942000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:42916800-42942800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:42917000-42942800	Strong transcription	Fetal Stomach	stomach
23	chr8:42917200-42941600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:42917600-42935800	Strong transcription	Liver	Liver
25	chr8:42917600-42941600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr8:42917600-42941600	Strong transcription	Dnd41	blood
27	chr8:42917600-42941800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:42917600-42941800	Strong transcription	Adipose Nuclei	Adipose
29	chr8:42917600-42942000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:42917600-42942000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:42917600-42942800	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:42917800-42936400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:42917800-42941400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:42917800-42941600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr8:42917800-42941600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr8:42917800-42941800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:42917800-42941800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr8:42917800-42942000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr8:42917800-42942400	Strong transcription	Placenta	Placenta
40	chr8:42917800-42943000	Strong transcription	Fetal Brain Female	brain
41	chr8:42918000-42941600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:42918600-42936600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:42919000-42937000	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:42919000-42942000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr8:42919000-42943000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:42919800-42935800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:42920200-42935000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:42921000-42942600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:42921600-42936400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:42922400-42941600	Strong transcription	H1 Cell Line	embryonic stem cell

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