Variant report

Variant	rs541609630
Chromosome Location	chr5:108521694-108521695
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	chr5:108519054..108521988-chr5:108744130..108746453,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198961	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	nsv882694	chr5:108391660-108524416	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1027163	chr5:108445447-108839913	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2756048	chr5:108448101-108542101	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1792067	chr5:108521224-108542526	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	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	chr5:108468800-108521800	Weak transcription	Aorta	Aorta
2	chr5:108481600-108535000	Weak transcription	Left Ventricle	heart
3	chr5:108496000-108532800	Weak transcription	Ovary	ovary
4	chr5:108500200-108527000	Weak transcription	HSMMtube	muscle
5	chr5:108501000-108521800	Weak transcription	Primary T cells from cord blood	blood
6	chr5:108502200-108522200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:108503200-108526800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:108503600-108526200	Weak transcription	Fetal Heart	heart
9	chr5:108503600-108540400	Weak transcription	Psoas Muscle	Psoas
10	chr5:108505000-108535200	Weak transcription	Pancreas	Pancrea
11	chr5:108509200-108523200	Weak transcription	HSMM	muscle
12	chr5:108510600-108521800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:108512000-108521800	Weak transcription	NHEK	skin
14	chr5:108512200-108521800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:108513400-108522000	Weak transcription	Fetal Brain Female	brain
16	chr5:108513600-108521800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:108513600-108521800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:108513600-108523000	Weak transcription	Fetal Stomach	stomach
19	chr5:108513800-108521800	Weak transcription	Fetal Lung	lung
20	chr5:108513800-108523200	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:108513800-108529600	Weak transcription	Colon Smooth Muscle	Colon
22	chr5:108514000-108523200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:108514800-108521800	Weak transcription	Liver	Liver
24	chr5:108514800-108525400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:108515200-108527000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:108517200-108521800	Weak transcription	Lung	lung
27	chr5:108517200-108523000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:108517200-108523400	Weak transcription	Thymus	Thymus
29	chr5:108517200-108533000	Weak transcription	Fetal Kidney	kidney
30	chr5:108517400-108523400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:108517400-108527600	Weak transcription	Fetal Intestine Small	intestine
32	chr5:108518800-108526400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:108519200-108526200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:108519400-108525400	Weak transcription	Right Ventricle	heart
35	chr5:108519600-108521800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:108519800-108521800	Weak transcription	HepG2	liver
37	chr5:108520000-108526400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:108520200-108521800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:108520200-108521800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr5:108520200-108523200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:108520200-108523400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:108520200-108527200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:108520400-108522000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr5:108520400-108522000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:108520400-108523400	Weak transcription	Osteobl	bone
46	chr5:108520400-108527000	Weak transcription	Small Intestine	intestine
47	chr5:108520600-108522000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:108520600-108522200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr5:108520600-108523200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr5:108520600-108523200	Weak transcription	NHDF-Ad	bronchial

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