Variant report

Variant	rs554012944
Chromosome Location	chr8:9996052-9996053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1034343	chr8:9948342-10014155	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1027280	chr8:9958259-10058984	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1850829	chr8:9958321-10045451	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv890344	chr8:9995515-10060638	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9986200-10002200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:9988800-9996200	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:9988800-10002200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:9989000-10000400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:9991200-9997600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:9991200-10004600	Weak transcription	Esophagus	oesophagus
7	chr8:9992000-9997400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:9992200-10004800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:9992200-10004800	Weak transcription	Right Ventricle	heart
10	chr8:9992400-10000600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:9992600-9996200	Weak transcription	Brain Substantia Nigra	brain
12	chr8:9992600-10000600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:9995000-9996400	Enhancers	Small Intestine	intestine
14	chr8:9995000-9996600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:9995000-9996800	Enhancers	Fetal Intestine Large	intestine
16	chr8:9995000-9998600	Enhancers	Adipose Nuclei	Adipose
17	chr8:9995000-10000600	Enhancers	Fetal Brain Male	brain
18	chr8:9995200-9996600	Enhancers	Brain Angular Gyrus	brain
19	chr8:9995200-9996800	Enhancers	Brain Germinal Matrix	brain
20	chr8:9995200-9997800	Enhancers	Fetal Intestine Small	intestine
21	chr8:9995400-9996600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:9995400-9996600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr8:9995400-9996600	Enhancers	Rectal Smooth Muscle	rectum
24	chr8:9995400-9996800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:9995400-9996800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:9995600-9996600	Enhancers	Duodenum Mucosa	Duodenum
27	chr8:9995600-9996600	Enhancers	Ovary	ovary
28	chr8:9995600-9996800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr8:9995800-9996200	Enhancers	HepG2	liver
30	chr8:9995800-9996400	Enhancers	Lung	lung
31	chr8:9995800-9996400	Enhancers	Pancreas	Pancrea
32	chr8:9995800-9996400	Enhancers	Stomach Mucosa	stomach
33	chr8:9995800-9996600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:9995800-9996600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:9995800-9996600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:9995800-9996600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:9995800-9996600	Flanking Active TSS	Liver	Liver
38	chr8:9995800-9996600	Enhancers	Brain Anterior Caudate	brain
39	chr8:9995800-9996600	Enhancers	Brain Cingulate Gyrus	brain
40	chr8:9995800-9996600	Enhancers	Colon Smooth Muscle	Colon
41	chr8:9995800-9996600	Flanking Active TSS	Fetal Brain Female	brain
42	chr8:9995800-9996600	Enhancers	Gastric	stomach
43	chr8:9995800-9996600	Enhancers	Left Ventricle	heart
44	chr8:9995800-9996600	Enhancers	Right Atrium	heart
45	chr8:9995800-9996600	Enhancers	HSMMtube	muscle
46	chr8:9995800-9996600	Enhancers	NHDF-Ad	bronchial
47	chr8:9995800-9996600	Enhancers	NHLF	lung
48	chr8:9995800-9996600	Enhancers	Osteobl	bone
49	chr8:9995800-9996800	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr8:9995800-9996800	Enhancers	Fetal Heart	heart

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