Variant report

Variant	rs548588117
Chromosome Location	chr6:132272130-132272131
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:132269655-132282174..6:132454814-132459405	GM12878	blood:
2	6:132269655-132282174..6:132434977-132438109	Hela-S3	cervix:
3	6:132269655-132282174..6:132402790-132406656	H1-hESC	embryonic stem cell:	embryo
4	6:132269655-132282174..6:132480387-132483283	H1-hESC	embryonic stem cell:	embryo

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ENPP1-2	chr6:132272086-132272394	ENSG00000227220.1

Variant related genes	Relation type
ENSG00000236166	Chromatin interaction
ENSG00000265669	Chromatin interaction
ENSG00000228495	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv3398326	chr6:132269959-132274257	Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a
3	esv3405704	chr6:132270884-132273432	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	esv3356801	chr6:132271409-132273607	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132269400-132273000	Active TSS	Ovary	ovary
2	chr6:132269800-132272800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:132269800-132272800	Active TSS	Psoas Muscle	Psoas
4	chr6:132270000-132272600	Active TSS	Brain Anterior Caudate	brain
5	chr6:132270000-132273000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:132270200-132273200	Active TSS	Right Atrium	heart
7	chr6:132270400-132272400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:132270400-132272400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:132270400-132272600	Bivalent/Poised TSS	Thymus	Thymus
10	chr6:132270400-132272800	Active TSS	Colon Smooth Muscle	Colon
11	chr6:132270600-132272800	Active TSS	Stomach Smooth Muscle	stomach
12	chr6:132270600-132272800	Active TSS	HSMM	muscle
13	chr6:132270600-132272800	Active TSS	HSMMtube	muscle
14	chr6:132270600-132272800	Active TSS	NHDF-Ad	bronchial
15	chr6:132270600-132273000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:132270600-132273000	Active TSS	Fetal Kidney	kidney
17	chr6:132270600-132273000	Active TSS	Rectal Smooth Muscle	rectum
18	chr6:132270800-132272800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr6:132270800-132272800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr6:132271000-132273000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr6:132271200-132272200	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:132271200-132272400	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
23	chr6:132271200-132272600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:132271200-132272800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:132271200-132272800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:132271200-132273000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr6:132271400-132272200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
28	chr6:132271400-132272200	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
29	chr6:132271400-132272200	Flanking Active TSS	Right Ventricle	heart
30	chr6:132271400-132272800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:132271400-132272800	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr6:132271400-132272800	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr6:132271400-132273000	Active TSS	A549	lung
34	chr6:132271400-132273200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
35	chr6:132271600-132272200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
36	chr6:132271600-132272400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:132271600-132272400	Active TSS	Spleen	Spleen
38	chr6:132271600-132272600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:132271600-132272600	Active TSS	Fetal Intestine Large	intestine
40	chr6:132271600-132272600	Active TSS	Small Intestine	intestine
41	chr6:132271600-132272600	Active TSS	NHEK	skin
42	chr6:132271600-132272800	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr6:132271600-132272800	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr6:132271600-132272800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:132271600-132272800	Active TSS	Brain Hippocampus Middle	brain
46	chr6:132271600-132272800	Bivalent/Poised TSS	Fetal Brain Female	brain
47	chr6:132271600-132272800	Active TSS	Fetal Stomach	stomach
48	chr6:132271600-132272800	Active TSS	Placenta Amnion	Placenta Amnion
49	chr6:132271600-132272800	Active TSS	Stomach Mucosa	stomach
50	chr6:132271600-132273000	Active TSS	H1 Cell Line	embryonic stem cell

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