Variant report

Variant	rs33983467
Chromosome Location	chr17:46102904-46102905
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46101739..46105145-chr17:46207358..46210173,3	MCF-7	breast:
2	chr17:46101075..46105793-chr17:46203518..46208640,6	MCF-7	breast:
3	chr17:46102017..46103055-chr17:46695675..46696647,5	K562	blood:
4	chr17:46101220..46105616-chr17:46211133..46214847,5	K562	blood:
5	chr17:46101105..46103600-chr17:46138734..46141619,2	K562	blood:
6	chr17:46100290..46104941-chr17:46183793..46186470,6	MCF-7	breast:
7	chr17:46035894..46038484-chr17:46099628..46103418,4	MCF-7	breast:
8	chr17:46102069..46103134-chr17:46150737..46152351,16	K562	blood:
9	chr17:46102233..46104443-chr17:46148232..46151120,2	K562	blood:
10	chr17:46102208..46103015-chr17:46955283..46956936,4	K562	blood:
11	chr17:46102704..46105485-chr17:46150295..46153343,3	MCF-7	breast:
12	chr17:45973640..45975276-chr17:46101393..46103848,2	MCF-7	breast:
13	chr17:46102177..46103619-chr17:46151450..46152271,5	MCF-7	breast:
14	chr17:46102745..46105471-chr17:46206069..46210163,5	K562	blood:
15	chr17:46101392..46102971-chr17:46203162..46205117,2	MCF-7	breast:
16	chr17:46102373..46103175-chr17:46695748..46696490,3	MCF-7	breast:
17	chr17:46100592..46104586-chr17:46183324..46186520,4	K562	blood:
18	chr17:46102851..46105550-chr17:46199872..46202014,2	MCF-7	breast:
19	chr17:46102447..46103014-chr17:46258042..46258857,2	MCF-7	breast:
20	chr17:46100886..46103222-chr17:46270913..46273515,2	MCF-7	breast:
21	chr17:46102222..46103170-chr17:46208285..46209232,6	K562	blood:
22	chr17:46101312..46103922-chr17:46212522..46214057,2	MCF-7	breast:
23	chr17:46047240..46049948-chr17:46101636..46104344,3	MCF-7	breast:
24	chr17:46037638..46039949-chr17:46100422..46103113,2	MCF-7	breast:
25	chr11:62607625..62609532-chr17:46102709..46105025,2	K562	blood:
26	chr17:46033388..46035885-chr17:46101144..46103907,2	MCF-7	breast:
27	chr17:46102567..46103108-chr17:46208472..46209147,2	MCF-7	breast:
28	chr17:46102421..46103102-chr17:46174635..46175180,2	MCF-7	breast:
29	chr17:46101261..46104972-chr17:46659979..46662985,3	K562	blood:
30	chr17:46102299..46104272-chr17:46156219..46158747,2	MCF-7	breast:
31	chr17:46102851..46105314-chr17:46237154..46238995,2	MCF-7	breast:
32	chr17:46070659..46072225-chr17:46102465..46104720,2	K562	blood:
33	chr17:46101351..46104299-chr17:46183324..46186063,2	K562	blood:
34	chr17:46101917..46105138-chr17:46176105..46179935,5	K562	blood:
35	chr17:46046874..46048813-chr17:46100923..46104280,3	MCF-7	breast:
36	chr17:46088611..46089553-chr17:46102607..46103180,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000141293	Chromatin interaction
ENSG00000108468	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000120093	Chromatin interaction
ENSG00000167183	Chromatin interaction
ENSG00000002919	Chromatin interaction

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

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

rs_ID	r²[population]
rs12602010	0.86[ASN][1000 genomes]
rs12935890	0.81[AMR][1000 genomes]
rs12940701	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34785219	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
rs33983467	SCRN2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46100400-46103400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr17:46100400-46103800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:46100600-46103000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr17:46100600-46103200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:46100800-46103000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr17:46100800-46103200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr17:46100800-46103200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr17:46101000-46103200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr17:46101200-46103200	Active TSS	Psoas Muscle	Psoas
10	chr17:46101400-46103000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr17:46101400-46103200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:46101400-46103400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr17:46101400-46104200	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr17:46101800-46103000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr17:46101800-46103000	Active TSS	Right Atrium	heart
16	chr17:46101800-46103200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr17:46101800-46103200	Weak transcription	Aorta	Aorta
18	chr17:46102000-46103000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:46102000-46103000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr17:46102000-46103000	Active TSS	Right Ventricle	heart
21	chr17:46102000-46103000	Active TSS	Hela-S3	cervix
22	chr17:46102000-46103000	Active TSS	HSMMtube	muscle
23	chr17:46102000-46103000	Active TSS	NHDF-Ad	bronchial
24	chr17:46102000-46103200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr17:46102200-46103000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr17:46102200-46103000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr17:46102200-46103000	Active TSS	Brain Angular Gyrus	brain
28	chr17:46102200-46103000	Active TSS	Colon Smooth Muscle	Colon
29	chr17:46102200-46103000	Active TSS	Fetal Brain Male	brain
30	chr17:46102200-46103000	Active TSS	Ovary	ovary
31	chr17:46102200-46103000	Active TSS	A549	lung
32	chr17:46102200-46103000	Active TSS	NHLF	lung
33	chr17:46102200-46103200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr17:46102200-46103200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr17:46102200-46103200	Active TSS	Fetal Brain Female	brain
36	chr17:46102400-46103000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr17:46102400-46103000	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr17:46102400-46103000	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr17:46102400-46103000	Active TSS	Brain Anterior Caudate	brain
40	chr17:46102400-46103000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr17:46102400-46103000	Active TSS	Brain Substantia Nigra	brain
42	chr17:46102400-46103000	Active TSS	Fetal Heart	heart
43	chr17:46102400-46103000	Active TSS	Gastric	stomach
44	chr17:46102400-46103000	Active TSS	Rectal Smooth Muscle	rectum
45	chr17:46102400-46103200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr17:46102400-46103200	Active TSS	Fetal Kidney	kidney
47	chr17:46102400-46103400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr17:46102400-46103400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr17:46102600-46103000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr17:46102600-46103000	Active TSS	HSMM	muscle

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