Variant report

Variant	rs141996762
Chromosome Location	chr8:62441058-62441059
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:62441053-62441328	IMR90	lung:	n/a	chr8:62441207-62441220 chr8:62441207-62441218

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62437290..62439641-chr8:62440301..62441831,2	K562	blood:

Variant related genes	Relation type
ASPH	TF binding region
ENSG00000198363	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv3479332	chr8:62440641-62441305	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3479333	chr8:62440641-62441305	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3479331	chr8:62440672-62441332	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:62412000-62455600	Strong transcription	A549	lung
4	chr8:62414200-62455400	Weak transcription	Fetal Lung	lung
5	chr8:62414600-62448800	Weak transcription	HUVEC	blood vessel
6	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
7	chr8:62416000-62441400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:62417000-62454000	Weak transcription	NHEK	skin
9	chr8:62421200-62456400	Weak transcription	Psoas Muscle	Psoas
10	chr8:62421400-62452600	Weak transcription	Brain Germinal Matrix	brain
11	chr8:62422600-62455400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:62423200-62456200	Weak transcription	Stomach Mucosa	stomach
13	chr8:62425800-62452600	Weak transcription	Primary T cells from cord blood	blood
14	chr8:62427000-62468600	Weak transcription	Fetal Thymus	thymus
15	chr8:62428000-62458600	Weak transcription	Fetal Intestine Small	intestine
16	chr8:62428000-62463800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:62428600-62444800	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:62428600-62451600	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:62429000-62452800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:62429600-62463000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:62430000-62464400	Weak transcription	Brain Anterior Caudate	brain
22	chr8:62430000-62467200	Weak transcription	Right Ventricle	heart
23	chr8:62430400-62449000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:62430400-62449400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:62430400-62449600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:62430400-62487400	Weak transcription	Colonic Mucosa	Colon
27	chr8:62430600-62442800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr8:62430600-62447400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:62430600-62454200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:62430600-62479600	Weak transcription	Brain Substantia Nigra	brain
31	chr8:62431600-62452800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:62431600-62455600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:62431600-62455600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:62431600-62456000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:62431800-62447000	Weak transcription	Hela-S3	cervix
36	chr8:62432400-62455000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr8:62433600-62449600	Weak transcription	Lung	lung
38	chr8:62433800-62443200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:62433800-62449600	Weak transcription	Fetal Stomach	stomach
40	chr8:62434200-62452800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:62434200-62463400	Weak transcription	Spleen	Spleen
42	chr8:62434400-62455600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:62434600-62446000	Weak transcription	Left Ventricle	heart
44	chr8:62434600-62449000	Weak transcription	Aorta	Aorta
45	chr8:62434600-62452200	Weak transcription	Gastric	stomach
46	chr8:62434600-62452400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:62435800-62447200	Weak transcription	NH-A	brain
48	chr8:62435800-62449400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:62436800-62449000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr8:62437400-62442800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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