Variant report

Variant	rs62076130
Chromosome Location	chr17:45905622-45905623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45904621..45906328-chr17:45958612..45961207,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266821	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs62076103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv908574	chr17:45876022-45930584	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv517880	chr17:45887951-45933341	Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62076130	SCRN2	cis	lung	GTEx
rs62076130	SCRN2	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45899800-45908000	Weak transcription	Right Atrium	heart
2	chr17:45900200-45906400	Strong transcription	Fetal Intestine Small	intestine
3	chr17:45900200-45906800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr17:45900200-45907000	Strong transcription	Primary T cells from cord blood	blood
5	chr17:45900400-45905800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:45900400-45906200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr17:45900400-45906200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:45900400-45906200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:45900400-45906200	Strong transcription	Brain Hippocampus Middle	brain
10	chr17:45900400-45906400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:45900400-45906400	Strong transcription	Liver	Liver
12	chr17:45900400-45906400	Strong transcription	Brain Germinal Matrix	brain
13	chr17:45900400-45906400	Strong transcription	Fetal Intestine Large	intestine
14	chr17:45900400-45906400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr17:45900400-45907200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr17:45900400-45907400	Weak transcription	Fetal Heart	heart
17	chr17:45900400-45907400	Strong transcription	Fetal Stomach	stomach
18	chr17:45900600-45906200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr17:45900600-45906200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:45900600-45906200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:45900600-45906200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr17:45900600-45906200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr17:45900600-45906200	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr17:45900600-45906200	Strong transcription	Brain Anterior Caudate	brain
25	chr17:45900600-45906200	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr17:45900600-45906200	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr17:45900600-45906200	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr17:45900600-45906200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr17:45900600-45906200	Strong transcription	Spleen	Spleen
30	chr17:45900600-45906400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr17:45900600-45906400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr17:45900600-45906400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr17:45900600-45906400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr17:45900600-45906400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr17:45900600-45906400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:45900600-45906400	Strong transcription	Adipose Nuclei	Adipose
37	chr17:45900600-45906400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr17:45900600-45906400	Strong transcription	Placenta	Placenta
39	chr17:45900600-45906400	Strong transcription	Fetal Thymus	thymus
40	chr17:45900600-45906400	Strong transcription	Lung	lung
41	chr17:45900600-45906600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr17:45900600-45906600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:45900600-45907000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr17:45900800-45906000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:45900800-45906000	Strong transcription	Thymus	Thymus
46	chr17:45900800-45906200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr17:45900800-45906200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr17:45900800-45906200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr17:45900800-45906200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr17:45900800-45906200	Strong transcription	Brain Substantia Nigra	brain

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