Variant report

Variant	rs16832283
Chromosome Location	chr1:160591997-160591998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160591264..160593776-chr1:160598506..160600175,2	K562	blood:
2	chr1:160589254..160593885-chr1:160595406..160601586,7	K562	blood:
3	chr1:160591815..160594095-chr1:160611969..160614792,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1055880	0.95[CEU][hapmap]
rs1061217	0.83[CEU][hapmap]
rs11265442	0.84[CEU][hapmap]
rs11265452	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583402	0.95[CEU][hapmap]
rs11585738	0.96[CEU][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap]
rs11590035	0.91[CEU][hapmap]
rs12144628	0.84[CEU][hapmap]
rs12402879	0.84[CEU][hapmap]
rs12728784	0.83[CEU][hapmap]
rs12733256	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1394078	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1503854	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs151607	0.92[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs1572382	0.84[CEU][hapmap]
rs164283	1.00[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs17381453	0.96[CEU][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap]
rs17385337	0.87[CEU][hapmap]
rs17385407	0.96[CEU][hapmap]
rs17385878	0.80[EUR][1000 genomes]
rs1809963	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1998651	0.84[CEU][hapmap]
rs2025516	0.81[CEU][hapmap]
rs2025517	0.84[CEU][hapmap]
rs2083128	0.83[CEU][hapmap]
rs2099604	0.91[CEU][hapmap]
rs2753260	0.92[CEU][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs3733264	0.96[CEU][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap]
rs3733265	0.96[CEU][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap]
rs3733266	0.96[CEU][hapmap]
rs3753381	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.80[MEX][hapmap];0.86[ASN][1000 genomes]
rs3753383	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs3766385	0.96[CEU][hapmap]
rs3766387	0.91[CEU][hapmap]
rs3766388	0.91[CEU][hapmap]
rs3766389	0.96[CEU][hapmap]
rs3816146	0.88[CEU][hapmap]
rs5002947	0.91[CEU][hapmap]
rs55841347	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56168064	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56367214	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61801564	0.80[EUR][1000 genomes]
rs61801565	0.81[EUR][1000 genomes]
rs61801567	0.83[EUR][1000 genomes]
rs6662093	0.86[EUR][1000 genomes]
rs6668760	0.84[CEU][hapmap]
rs6670721	0.91[CEU][hapmap];0.86[MEX][hapmap]
rs6687641	0.83[CEU][hapmap]
rs6692382	0.84[CEU][hapmap]
rs7547054	0.83[CEU][hapmap]
rs7550771	0.92[CEU][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.82[EUR][1000 genomes]
rs912582	0.96[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs977019	0.84[CEU][hapmap]

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	esv1829614	chr1:160465291-160595000	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv831703	chr1:160496124-160643024	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs16832283	OLFML2B	cis	parietal	SCAN
rs16832283	VANGL2	cis	cerebellum	SCAN
rs16832283	CD84	Cis_1M	lymphoblastoid	RTeQTL
rs16832283	ADAMTS4	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160579800-160593200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:160584400-160594600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:160585200-160592400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:160585600-160594800	Weak transcription	K562	blood
5	chr1:160587400-160598400	Genic enhancers	Fetal Thymus	thymus
6	chr1:160588800-160598000	Genic enhancers	Thymus	Thymus
7	chr1:160589000-160592800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:160589000-160596600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:160589600-160592200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:160589800-160596200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:160589800-160599400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:160590400-160592600	Weak transcription	Small Intestine	intestine
13	chr1:160590800-160594000	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr1:160590800-160594200	Enhancers	Primary B cells from cord blood	blood
15	chr1:160590800-160598000	Enhancers	Dnd41	blood
16	chr1:160591000-160592000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:160591000-160596000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr1:160591200-160593600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:160591400-160592400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr1:160591400-160593800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
21	chr1:160591400-160593800	Enhancers	Duodenum Mucosa	Duodenum
22	chr1:160591400-160594000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
23	chr1:160591400-160594200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:160591400-160594800	Genic enhancers	Primary T cells from cord blood	blood
25	chr1:160591400-160596800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr1:160591600-160592000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr1:160591600-160594000	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr1:160591800-160593200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:160591800-160593200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:160591800-160595000	Weak transcription	Spleen	Spleen
31	chr1:160591800-160595200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:160591800-160595200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr1:160591800-160595400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:160591800-160596400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:160591800-160605200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--

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