Variant report

Variant	rs17394102
Chromosome Location	chr2:30510147-30510148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30508605..30511135-chr2:30512104..30514404,2	K562	blood:
2	chr2:30504654..30506690-chr2:30509029..30511575,2	K562	blood:
3	chr2:30509284..30511862-chr2:30512040..30514428,3	K562	blood:
4	chr2:30507657..30509657-chr2:30510028..30511916,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10171296	1.00[CHD][hapmap]
rs10495774	1.00[CHB][hapmap];0.93[MEX][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11127264	1.00[CHD][hapmap]
rs12467407	1.00[CHD][hapmap]
rs12469902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12472981	1.00[ASN][1000 genomes]
rs12475240	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396720	1.00[ASN][1000 genomes]
rs13406665	1.00[ASN][1000 genomes]
rs13410030	1.00[ASN][1000 genomes]
rs17322090	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17322097	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6733372	1.00[CHD][hapmap]
rs72787730	1.00[ASN][1000 genomes]
rs72787734	1.00[ASN][1000 genomes]
rs72787741	1.00[ASN][1000 genomes]
rs72787743	1.00[ASN][1000 genomes]
rs72787745	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787748	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787765	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7563661	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7569754	1.00[ASN][1000 genomes]
rs7572714	1.00[ASN][1000 genomes]
rs7579019	1.00[ASN][1000 genomes]
rs7587320	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7604484	1.00[CHD][hapmap]
rs7606266	1.00[ASN][1000 genomes]
rs7608977	1.00[ASN][1000 genomes]
rs9558	1.00[CHD][hapmap]
rs9967884	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17394102	OTOF	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30487200-30517800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:30496600-30524200	Weak transcription	Right Atrium	heart
3	chr2:30497800-30516400	Weak transcription	Gastric	stomach
4	chr2:30499800-30510400	Weak transcription	Aorta	Aorta
5	chr2:30501400-30510800	Enhancers	Primary B cells from cord blood	blood
6	chr2:30501800-30511000	Weak transcription	HSMM	muscle
7	chr2:30503800-30513800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:30507000-30516000	Weak transcription	Spleen	Spleen
9	chr2:30507600-30511000	Weak transcription	NHLF	lung
10	chr2:30507600-30512200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:30507600-30512600	Weak transcription	K562	blood
12	chr2:30507600-30516000	Weak transcription	Left Ventricle	heart
13	chr2:30507600-30516200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:30507800-30511000	Weak transcription	NHDF-Ad	bronchial
15	chr2:30509400-30511600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:30509400-30512200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:30509600-30510800	Enhancers	Primary T cells from cord blood	blood
18	chr2:30509600-30512000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr2:30509600-30514000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:30509800-30510600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:30509800-30510600	Enhancers	Dnd41	blood
22	chr2:30509800-30510600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:30509800-30510800	Flanking Active TSS	GM12878-XiMat	blood
24	chr2:30509800-30511600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:30509800-30511800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr2:30509800-30511800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:30509800-30511800	Enhancers	Fetal Thymus	thymus
28	chr2:30509800-30512000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:30509800-30512200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr2:30509800-30512200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr2:30509800-30512400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:30509800-30512400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr2:30509800-30514000	Enhancers	Primary hematopoietic stem cells	blood
34	chr2:30510000-30510200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:30510000-30510400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:30510000-30510600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:30510000-30510600	Enhancers	Adipose Nuclei	Adipose
38	chr2:30510000-30510800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr2:30510000-30511200	Enhancers	Primary T cells fromperipheralblood	blood
40	chr2:30510000-30511200	Enhancers	Thymus	Thymus
41	chr2:30510000-30511400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:30510000-30511600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr2:30510000-30511600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:30510000-30511800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:30510000-30511800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr2:30510000-30511800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:30510000-30511800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr2:30510000-30511800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:30510000-30512000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:30510000-30512000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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