Variant report

Variant	rs34785219
Chromosome Location	chr17:46096126-46096127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46048202..46050216-chr17:46095604..46097333,2	MCF-7	breast:
2	chr17:46080200..46080836-chr17:46095623..46096407,2	K562	blood:
3	chr17:46064562..46065076-chr17:46095430..46096223,2	MCF-7	breast:
4	chr17:46026392..46027250-chr17:46095165..46096377,5	K562	blood:
5	chr1:8141317..8141817-chr17:46095779..46096378,2	MCF-7	breast:
6	chr17:46055400..46056359-chr17:46095413..46096252,5	MCF-7	breast:
7	chr17:46094248..46097209-chr17:46632627..46635464,2	K562	blood:
8	chr17:46048492..46050291-chr17:46095854..46098478,2	MCF-7	breast:
9	chr17:46055365..46056387-chr17:46095357..46096410,11	K562	blood:
10	chr17:46095774..46097363-chr17:46099582..46101725,2	MCF-7	breast:
11	chr17:46046870..46049794-chr17:46095106..46097466,2	K562	blood:
12	chr17:46058567..46062223-chr17:46094441..46097254,3	K562	blood:
13	chr17:45920026..45921157-chr17:46095429..46096394,5	K562	blood:
14	chr17:45918282..45919202-chr17:46095408..46096409,4	K562	blood:
15	chr17:45920145..45920704-chr17:46095754..46096343,3	MCF-7	breast:
16	chr17:45918292..45919402-chr17:46095322..46096165,4	MCF-7	breast:
17	chr17:46094604..46097136-chr17:46099608..46102510,2	K562	blood:
18	chr17:46026389..46027048-chr17:46095433..46096283,2	MCF-7	breast:
19	chr17:46055398..46056456-chr17:46095375..46096654,12	MCF-7	breast:
20	chr17:46027110..46029262-chr17:46094448..46097370,2	MCF-7	breast:
21	chr17:46026764..46027682-chr17:46095633..46096284,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000120093	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000239552	Chromatin interaction
ENSG00000141295	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12935890	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12940701	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2525103	0.82[EUR][1000 genomes]
rs33983467	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][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
rs34785219	SCRN2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46090200-46100400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr17:46090200-46100400	Weak transcription	Brain Substantia Nigra	brain
3	chr17:46090400-46100800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr17:46092600-46100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:46092600-46100800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:46092600-46100800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:46092800-46100200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:46092800-46100400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr17:46092800-46100600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:46092800-46100600	Weak transcription	Fetal Brain Female	brain
11	chr17:46093800-46100600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:46094000-46098600	Weak transcription	HSMMtube	muscle
13	chr17:46094000-46100400	Weak transcription	HSMM	muscle
14	chr17:46094000-46101600	Weak transcription	K562	blood
15	chr17:46095800-46096200	Enhancers	GM12878-XiMat	blood
16	chr17:46095800-46096400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr17:46095800-46097600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:46095800-46098800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr17:46095800-46100200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:46095800-46100200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr17:46095800-46100200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr17:46095800-46100400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr17:46095800-46100400	Weak transcription	A549	lung
24	chr17:46095800-46100600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:46095800-46100600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr17:46095800-46100600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr17:46096000-46098200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr17:46096000-46100400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr17:46096000-46100600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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