Variant report

Variant	rs3769321
Chromosome Location	chr2:173432354-173432355
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:173432177-173432470	HepG2	liver:	n/a	chr2:173432321-173432332 chr2:173432321-173432332 chr2:173432321-173432334 chr2:173432322-173432333

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173419861..173422982-chr2:173429726..173433169,3	MCF-7	breast:
2	chr2:173427712..173430423-chr2:173430823..173432448,2	K562	blood:

Variant related genes	Relation type
PDK1	TF binding region
ENSG00000225205	Chromatin interaction
ENSG00000152256	Chromatin interaction
ENSG00000199866	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10048692	0.82[EUR][1000 genomes]
rs10048707	0.82[EUR][1000 genomes]
rs10048825	0.82[EUR][1000 genomes]
rs10178654	0.83[CEU][hapmap]
rs10180021	0.80[CEU][hapmap]
rs10181851	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10186869	0.84[EUR][1000 genomes]
rs10199472	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs10201129	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs10202550	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs10208151	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs10210546	0.83[CEU][hapmap]
rs10427189	0.81[EUR][1000 genomes]
rs10427315	0.81[EUR][1000 genomes]
rs1075638	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10930561	0.93[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs10930562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10930563	0.87[ASN][1000 genomes]
rs10930565	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1133602	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11887454	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs11890159	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs11896032	0.81[EUR][1000 genomes]
rs11896178	0.81[EUR][1000 genomes]
rs11897165	0.84[EUR][1000 genomes]
rs11897495	0.83[EUR][1000 genomes]
rs11898890	0.81[EUR][1000 genomes]
rs11901110	0.84[EUR][1000 genomes]
rs11901586	0.81[EUR][1000 genomes]
rs11902810	0.83[EUR][1000 genomes]
rs11904158	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11904366	0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs12465704	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12476204	0.90[ASN][1000 genomes]
rs12613307	0.80[CHB][hapmap]
rs12693005	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs12693007	0.82[EUR][1000 genomes]
rs12693008	0.85[ASN][1000 genomes]
rs12990751	0.83[EUR][1000 genomes]
rs13007707	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs13008835	0.84[EUR][1000 genomes]
rs13009291	0.82[EUR][1000 genomes]
rs13010205	0.81[EUR][1000 genomes]
rs13015260	0.90[ASN][1000 genomes]
rs13019331	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13024563	0.89[ASN][1000 genomes]
rs13032610	0.82[EUR][1000 genomes]
rs13385403	0.83[CEU][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.85[EUR][1000 genomes]
rs13392808	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs13394924	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs13401676	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13401980	0.84[EUR][1000 genomes]
rs13415174	0.81[EUR][1000 genomes]
rs13417334	0.83[CEU][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs1530864	0.93[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs1530865	0.93[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs1531150	0.83[ASN][1000 genomes]
rs16860693	0.93[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs16860696	0.83[CEU][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes]
rs16860697	0.83[CEU][hapmap];0.86[YRI][hapmap];0.85[EUR][1000 genomes]
rs16860737	0.90[ASN][1000 genomes]
rs16860741	0.89[ASN][1000 genomes]
rs17299956	0.83[CEU][hapmap]
rs17702263	0.83[CEU][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs1868901	0.89[ASN][1000 genomes]
rs1869922	0.83[CEU][hapmap];0.82[TSI][hapmap]
rs1869923	0.86[ASN][1000 genomes]
rs1982410	0.81[EUR][1000 genomes]
rs2290563	0.92[CEU][hapmap]
rs2290564	0.85[EUR][1000 genomes]
rs2599260	0.86[ASN][1000 genomes]
rs2599261	0.86[ASN][1000 genomes]
rs2599262	0.86[ASN][1000 genomes]
rs2599263	0.86[ASN][1000 genomes]
rs2599264	0.86[ASN][1000 genomes]
rs2599265	0.86[ASN][1000 genomes]
rs2599266	0.86[ASN][1000 genomes]
rs2606062	0.86[ASN][1000 genomes]
rs2606063	0.86[ASN][1000 genomes]
rs2606064	0.85[ASN][1000 genomes]
rs2606065	0.86[ASN][1000 genomes]
rs2606066	0.86[ASN][1000 genomes]
rs2606067	0.86[ASN][1000 genomes]
rs2606070	0.86[ASN][1000 genomes]
rs34051646	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34139806	0.82[EUR][1000 genomes]
rs34707897	0.84[EUR][1000 genomes]
rs34888332	0.84[EUR][1000 genomes]
rs35809888	0.84[EUR][1000 genomes]
rs35880823	0.84[EUR][1000 genomes]
rs35892983	0.87[ASN][1000 genomes]
rs36118221	0.84[EUR][1000 genomes]
rs3765065	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61505737	0.83[ASN][1000 genomes]
rs62167835	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62169270	0.84[EUR][1000 genomes]
rs66460331	0.81[EUR][1000 genomes]
rs6710129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6723872	0.83[CEU][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.85[EUR][1000 genomes]
rs6733679	0.86[ASN][1000 genomes]
rs6738196	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6752257	0.83[CEU][hapmap];0.91[TSI][hapmap];0.80[YRI][hapmap];0.85[EUR][1000 genomes]
rs6752386	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs70937083	0.83[ASN][1000 genomes]
rs70937084	0.83[ASN][1000 genomes]
rs7584769	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8179584	0.86[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs836590	0.86[ASN][1000 genomes]
rs836608	0.81[ASN][1000 genomes]
rs836614	0.81[ASN][1000 genomes]
rs836616	0.81[ASN][1000 genomes]
rs836617	0.81[ASN][1000 genomes]
rs836629	0.86[ASN][1000 genomes]
rs836630	0.86[ASN][1000 genomes]
rs836631	0.86[ASN][1000 genomes]
rs836634	0.86[ASN][1000 genomes]

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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv3035	chr2:173419058-173463901	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	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
rs3769321	ZAK	cis	cerebellum	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173421400-173436200	Weak transcription	Spleen	Spleen
2	chr2:173421600-173436000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:173421600-173436000	Weak transcription	Lung	lung
4	chr2:173421600-173453400	Weak transcription	Pancreas	Pancrea
5	chr2:173421800-173439000	Weak transcription	Psoas Muscle	Psoas
6	chr2:173421800-173443600	Weak transcription	Ovary	ovary
7	chr2:173421800-173465200	Weak transcription	Small Intestine	intestine
8	chr2:173422000-173437600	Weak transcription	A549	lung
9	chr2:173422000-173438600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:173422000-173439000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:173422000-173443600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:173422200-173436200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:173422200-173437000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:173422200-173437000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:173422200-173438600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:173422200-173451000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:173422600-173438800	Weak transcription	Brain Substantia Nigra	brain
18	chr2:173423000-173433800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:173423400-173438600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:173423400-173441400	Weak transcription	Fetal Kidney	kidney
21	chr2:173423400-173451000	Weak transcription	Colonic Mucosa	Colon
22	chr2:173423600-173433400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:173423600-173436800	Strong transcription	Dnd41	blood
24	chr2:173423600-173438600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:173423600-173439600	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr2:173423600-173443600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:173424400-173439400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:173424600-173440200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:173424600-173447800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:173425000-173438600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:173425000-173438800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:173426200-173439200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:173426200-173460600	Weak transcription	HSMMtube	muscle
34	chr2:173426400-173438600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:173426400-173438600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:173426400-173438600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:173426400-173438800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:173426400-173439000	Weak transcription	Brain Germinal Matrix	brain
39	chr2:173426800-173439000	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr2:173426800-173439000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:173426800-173439400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:173426800-173443600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:173427000-173432800	Strong transcription	HMEC	breast
44	chr2:173427000-173433800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:173427000-173437600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:173427000-173438000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:173427000-173438000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:173427000-173438200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:173427000-173438400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr2:173427000-173438600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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