Variant report

Variant	rs2368384
Chromosome Location	chr2:184067653-184067654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10153562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10168255	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10168331	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10172947	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179245	1.00[YRI][hapmap]
rs10181735	1.00[YRI][hapmap]
rs10183843	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10184666	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10191080	1.00[YRI][hapmap]
rs10497622	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.87[ASN][1000 genomes]
rs11691085	0.95[ASN][1000 genomes]
rs12612008	1.00[YRI][hapmap]
rs13410455	0.95[ASN][1000 genomes]
rs13414878	0.97[ASN][1000 genomes]
rs13420955	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1400131	0.86[ASW][hapmap];0.95[YRI][hapmap]
rs1473617	1.00[YRI][hapmap]
rs1882444	0.86[ASW][hapmap];0.91[YRI][hapmap]
rs2138484	0.82[YRI][hapmap]
rs2368385	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675045	0.80[MKK][hapmap];0.91[YRI][hapmap]
rs2675090	0.86[YRI][hapmap]
rs2675108	0.90[YRI][hapmap]
rs2705760	0.91[YRI][hapmap]
rs35424610	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4666888	1.00[YRI][hapmap]
rs6434004	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6733251	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6733594	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6739299	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741334	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7569854	1.00[YRI][hapmap]
rs7607102	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs7608545	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv875486	chr2:184016627-184095979	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2368384	ZNF571	trans	cerebellum	SCAN
rs2368384	IPMK	trans	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184044400-184071600	Weak transcription	NH-A	brain
2	chr2:184047800-184078400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:184048800-184071800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:184049000-184072000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:184049000-184072600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:184049000-184078000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:184050400-184091600	Weak transcription	Psoas Muscle	Psoas
8	chr2:184050600-184071400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:184052400-184071400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:184052400-184071400	Weak transcription	Aorta	Aorta
11	chr2:184053000-184070200	Weak transcription	Brain Germinal Matrix	brain
12	chr2:184053000-184072000	Weak transcription	Left Ventricle	heart
13	chr2:184053000-184074200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:184053200-184076000	Weak transcription	Pancreas	Pancrea
15	chr2:184054000-184070600	Weak transcription	HepG2	liver
16	chr2:184054000-184071800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:184054000-184076200	Weak transcription	Primary B cells from cord blood	blood
18	chr2:184055000-184069200	Weak transcription	Liver	Liver
19	chr2:184055600-184071600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:184055600-184076400	Weak transcription	Primary T cells from cord blood	blood
21	chr2:184056600-184069200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:184056600-184069800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:184056800-184072200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:184056800-184073800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:184058400-184069200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:184058400-184072400	Weak transcription	Dnd41	blood
27	chr2:184058800-184074200	Weak transcription	A549	lung
28	chr2:184061800-184074200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:184062800-184071400	Weak transcription	Ovary	ovary
30	chr2:184062800-184080600	Weak transcription	K562	blood
31	chr2:184064000-184071200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:184064400-184073600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:184067400-184068000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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