Variant report

Variant	rs385076
Chromosome Location	chr2:32489851-32489852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32489371..32491276-chr2:32526459..32528008,2	K562	blood:

Variant related genes	Relation type
ENSG00000119820	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10208246	0.86[CHB][hapmap]
rs10490360	0.83[CHB][hapmap]
rs11124275	0.83[CHB][hapmap]
rs11676938	0.83[CHB][hapmap]
rs11678119	0.81[CHB][hapmap]
rs11691939	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs12465351	0.83[CHB][hapmap]
rs12614686	0.83[CHB][hapmap]
rs1265340	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12997026	0.83[CHB][hapmap]
rs13006495	0.83[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs13013695	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs13022197	0.82[CHB][hapmap]
rs13427170	0.83[CHB][hapmap]
rs212715	0.83[CEU][hapmap]
rs212716	0.88[ASW][hapmap];0.82[MEX][hapmap]
rs212717	0.88[ASW][hapmap];0.83[CEU][hapmap];0.83[CHB][hapmap];0.87[MEX][hapmap]
rs212724	0.83[CEU][hapmap]
rs212726	0.83[CEU][hapmap]
rs212727	0.83[CEU][hapmap]
rs212730	0.83[CEU][hapmap]
rs212731	0.83[CEU][hapmap]
rs212738	0.83[CHB][hapmap]
rs212739	0.83[CHB][hapmap]
rs216544	0.83[CHB][hapmap]
rs2280968	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs2366736	0.83[CHB][hapmap]
rs2566483	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34197800	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs374743	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3752916	0.83[CHB][hapmap]
rs3769604	0.83[CHB][hapmap];0.83[MEX][hapmap]
rs3769605	0.82[CHD][hapmap]
rs3769606	0.83[CHB][hapmap];0.83[MEX][hapmap]
rs408813	0.80[EUR][1000 genomes]
rs410469	0.83[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap]
rs428002	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs435572	0.88[ASW][hapmap];0.84[CEU][hapmap];0.83[CHB][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs443609	0.89[CEU][hapmap];0.83[CHB][hapmap];0.87[MEX][hapmap];0.81[EUR][1000 genomes]
rs455060	0.83[CEU][hapmap]
rs467523	0.83[CHB][hapmap]
rs479333	0.88[ASW][hapmap];0.89[CEU][hapmap];0.83[CHB][hapmap];0.91[MEX][hapmap];0.80[MKK][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4952209	0.83[CHB][hapmap]
rs4952248	0.83[CHB][hapmap]
rs4952250	0.83[CHB][hapmap]
rs4952252	0.83[CHB][hapmap]
rs59966205	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62134033	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs659239	0.88[ASW][hapmap];0.89[CEU][hapmap];0.83[CHB][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6717209	0.83[CHB][hapmap]
rs6723154	0.83[CHB][hapmap]
rs6725184	0.95[CHB][hapmap];0.82[CHD][hapmap];0.87[MEX][hapmap]
rs6758024	0.83[CHB][hapmap]
rs6760105	0.83[CHB][hapmap];0.87[MEX][hapmap]
rs7562653	0.83[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap]
rs7566162	0.83[CHB][hapmap]
rs7572964	0.83[CHB][hapmap]
rs7573543	0.83[CHB][hapmap]
rs7581340	0.83[CHB][hapmap]
rs7581432	0.83[CHB][hapmap]
rs7605242	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv1002120	chr2:32470452-32539443	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1004279	chr2:32470452-32543369	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs385076	EHD3	cis	parietal	SCAN
rs385076	NLRC4	cis	lymphoblastoid	seeQTL
rs385076	SLC30A6	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32487200-32490600	Active TSS	Primary hematopoietic stem cells	blood
2	chr2:32487400-32490600	Weak transcription	K562	blood
3	chr2:32489200-32490200	Active TSS	Primary monocytes fromperipheralblood	blood
4	chr2:32489200-32490200	Active TSS	GM12878-XiMat	blood
5	chr2:32489200-32490600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:32489400-32490000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
7	chr2:32489400-32490000	Active TSS	Duodenum Mucosa	Duodenum
8	chr2:32489600-32490000	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr2:32489600-32490000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr2:32489600-32490200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:32489600-32490400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:32489600-32491000	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr2:32489600-32491000	Flanking Active TSS	HepG2	liver
14	chr2:32489600-32491200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr2:32489800-32490200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:32489800-32490400	Active TSS	Monocytes-CD14+_RO01746	blood

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