Variant report

Variant	rs2597175
Chromosome Location	chr17:46086911-46086912
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46065449..46067684-chr17:46085725..46089051,3	K562	blood:
2	chr17:46077674..46080583-chr17:46085279..46087507,2	MCF-7	breast:
3	chr17:46062866..46064807-chr17:46085131..46087334,2	MCF-7	breast:
4	chr17:46072010..46075577-chr17:46085333..46087200,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264701	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1076236	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2002448	0.91[EUR][1000 genomes]
rs2597160	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs757351	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs886445	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2597175	SCRN2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46080600-46088800	Weak transcription	Hela-S3	cervix
2	chr17:46081000-46089000	Weak transcription	Brain Angular Gyrus	brain
3	chr17:46081200-46088600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr17:46081600-46088800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:46082600-46088800	Weak transcription	A549	lung
6	chr17:46082600-46090000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:46082800-46088800	Weak transcription	Fetal Kidney	kidney
8	chr17:46083000-46088400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:46083000-46088400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:46083000-46088800	Weak transcription	Placenta	Placenta
11	chr17:46083000-46088800	Weak transcription	HUVEC	blood vessel
12	chr17:46083000-46088800	Weak transcription	NHEK	skin
13	chr17:46083000-46089000	Weak transcription	HMEC	breast
14	chr17:46083000-46089200	Weak transcription	HSMMtube	muscle
15	chr17:46083600-46088600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:46083600-46088600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:46083600-46088800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:46083800-46088600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr17:46083800-46088800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr17:46083800-46089200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:46084000-46088600	Weak transcription	GM12878-XiMat	blood
22	chr17:46084000-46088800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr17:46084000-46088800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr17:46084600-46087200	Weak transcription	Fetal Brain Male	brain
25	chr17:46084800-46087000	Weak transcription	Fetal Brain Female	brain
26	chr17:46084800-46088400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr17:46084800-46088600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr17:46084800-46089000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:46085000-46087200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr17:46085000-46088600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr17:46085200-46088800	Weak transcription	Adipose Nuclei	Adipose
32	chr17:46085600-46088800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr17:46086000-46088800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr17:46086400-46087200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:46086800-46087400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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