Variant report

Variant	rs1427333
Chromosome Location	chr2:182713319-182713320
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182713154..182714930-chr2:182753122..182755822,2	K562	blood:
2	chr2:182708528..182710954-chr2:182712417..182715182,2	K562	blood:
3	chr2:182606279..182608776-chr2:182713164..182714678,2	K562	blood:
4	chr2:182606279..182609235-chr2:182713164..182715694,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10183937	0.88[JPT][hapmap]
rs10803953	0.85[JPT][hapmap]
rs11891680	0.83[ASN][1000 genomes]
rs11898530	0.87[ASN][1000 genomes]
rs11902326	0.85[ASN][1000 genomes]
rs12612058	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12616753	1.00[YRI][hapmap]
rs12616757	1.00[YRI][hapmap]
rs12620901	0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12622894	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13387144	0.85[ASN][1000 genomes]
rs16867491	1.00[YRI][hapmap]
rs16867495	1.00[YRI][hapmap]
rs16867502	0.87[JPT][hapmap];0.82[AMR][1000 genomes]
rs16867503	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16867504	0.81[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes]
rs16867506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1991374	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4018749	0.88[JPT][hapmap]
rs57000426	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57971040	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59956987	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61246630	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6720578	0.85[ASN][1000 genomes]
rs7567399	0.85[ASN][1000 genomes]
rs7567560	0.85[ASN][1000 genomes]
rs7581484	0.85[ASN][1000 genomes]
rs7584725	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182703200-182717200	Weak transcription	Pancreas	Pancrea
2	chr2:182709400-182713400	Enhancers	Brain Substantia Nigra	brain
3	chr2:182709600-182714600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:182709800-182714400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:182710400-182717800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:182710800-182714200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:182710800-182714400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:182711200-182715200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:182711200-182715400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:182711400-182714600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:182711800-182714800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:182712000-182715000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:182712200-182714400	Weak transcription	HSMMtube	muscle
14	chr2:182712400-182714000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr2:182712400-182715200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:182712600-182713400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:182712600-182713600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:182712600-182714000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:182712600-182714800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr2:182712800-182713400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:182712800-182714400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:182712800-182716600	Enhancers	Brain Hippocampus Middle	brain
23	chr2:182713000-182713400	Enhancers	Brain Anterior Caudate	brain
24	chr2:182713000-182713400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:182713000-182713600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:182713000-182714800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:182713200-182713400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:182713200-182713400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:182713200-182713400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:182713200-182713400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:182713200-182714000	Weak transcription	Brain Angular Gyrus	brain
32	chr2:182713200-182714200	Weak transcription	Fetal Kidney	kidney
33	chr2:182713200-182716200	Weak transcription	Fetal Stomach	stomach

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