Variant report

Variant	rs527789194
Chromosome Location	chr8:48788582-48788583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48787397..48789499-chr8:48791391..48793520,2	K562	blood:

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	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	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
5	esv3342946	chr8:48778448-48802085	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48684400-48861600	Strong transcription	Dnd41	blood
2	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
3	chr8:48722600-48798800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:48723000-48793400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:48726200-48793400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:48738400-48818800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:48739600-48793400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:48739600-48799400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:48739600-48822200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:48739600-48870600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:48739800-48793400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:48739800-48870400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:48751400-48805800	Strong transcription	Fetal Lung	lung
16	chr8:48756600-48793400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:48758200-48799600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:48759800-48808400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr8:48761000-48793400	Strong transcription	Primary B cells from cord blood	blood
20	chr8:48775200-48796000	Weak transcription	Small Intestine	intestine
21	chr8:48775400-48788600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:48775400-48800200	Weak transcription	Stomach Mucosa	stomach
23	chr8:48775600-48791400	Weak transcription	Fetal Heart	heart
24	chr8:48776800-48797200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:48777200-48788600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:48777200-48789400	Weak transcription	Brain Substantia Nigra	brain
27	chr8:48777200-48790800	Weak transcription	Psoas Muscle	Psoas
28	chr8:48777200-48791000	Weak transcription	HSMMtube	muscle
29	chr8:48777400-48788600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:48778600-48793400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:48778600-48838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:48778800-48795800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:48778800-48808200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:48778800-48818200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr8:48778800-48818800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr8:48779400-48808200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr8:48779400-48815800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:48779600-48793400	Strong transcription	Fetal Intestine Large	intestine
39	chr8:48779800-48822200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:48780000-48822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:48782800-48790800	Weak transcription	Spleen	Spleen
42	chr8:48782800-48793400	Weak transcription	Gastric	stomach
43	chr8:48782800-48794800	Weak transcription	Right Ventricle	heart
44	chr8:48782800-48832200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr8:48783000-48789400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr8:48783000-48789400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:48783000-48794800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:48783000-48794800	Weak transcription	Esophagus	oesophagus
49	chr8:48783200-48788600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr8:48783200-48788600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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