Variant report

Variant	rs4763839
Chromosome Location	chr12:9882700-9882701
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9876110..9878240-chr12:9880296..9883371,3	K562	blood:
2	chr12:9874964..9878982-chr12:9880296..9882811,3	K562	blood:
3	chr12:9881185..9883012-chr12:9884360..9886826,2	K562	blood:

Variant related genes	Relation type
ENSG00000184293	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1008610	0.83[ASN][1000 genomes]
rs1044771	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10466829	0.86[ASN][1000 genomes]
rs10492165	0.87[ASN][1000 genomes]
rs10492166	0.87[ASN][1000 genomes]
rs1056151	0.87[ASN][1000 genomes]
rs10743819	0.85[ASN][1000 genomes]
rs10772070	0.82[ASN][1000 genomes]
rs10772071	0.82[ASN][1000 genomes]
rs10772072	0.82[ASN][1000 genomes]
rs10772073	0.82[ASN][1000 genomes]
rs10772074	0.83[ASN][1000 genomes]
rs10772079	0.83[ASN][1000 genomes]
rs10772085	0.86[ASN][1000 genomes]
rs10772087	0.83[ASN][1000 genomes]
rs10772090	0.81[ASN][1000 genomes]
rs10772091	0.83[ASN][1000 genomes]
rs10772092	0.83[ASN][1000 genomes]
rs10772094	0.83[ASN][1000 genomes]
rs10844472	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10844569	0.83[ASN][1000 genomes]
rs10844597	0.82[ASN][1000 genomes]
rs10844609	0.83[ASN][1000 genomes]
rs10844610	0.81[ASN][1000 genomes]
rs10844615	0.83[ASN][1000 genomes]
rs10844617	0.86[ASN][1000 genomes]
rs10844620	0.84[ASN][1000 genomes]
rs10844622	0.87[ASN][1000 genomes]
rs10844626	0.83[ASN][1000 genomes]
rs10844627	0.83[ASN][1000 genomes]
rs10844630	0.83[ASN][1000 genomes]
rs10844632	0.83[ASN][1000 genomes]
rs10844633	0.83[ASN][1000 genomes]
rs10844635	0.83[ASN][1000 genomes]
rs10844636	0.83[ASN][1000 genomes]
rs10844637	0.83[ASN][1000 genomes]
rs10844638	0.83[ASN][1000 genomes]
rs11052497	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11052582	0.88[ASN][1000 genomes]
rs11052710	0.86[ASN][1000 genomes]
rs11052713	0.81[ASN][1000 genomes]
rs11052717	0.83[ASN][1000 genomes]
rs11052750	0.83[ASN][1000 genomes]
rs11052751	0.83[ASN][1000 genomes]
rs11052752	0.83[ASN][1000 genomes]
rs12304510	0.87[ASN][1000 genomes]
rs12317499	0.84[ASN][1000 genomes]
rs12424826	0.87[ASN][1000 genomes]
rs12427310	0.88[ASN][1000 genomes]
rs12582584	0.87[ASN][1000 genomes]
rs1985788	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2012643	0.88[ASN][1000 genomes]
rs2058560	0.83[ASN][1000 genomes]
rs2080206	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2080211	0.86[ASN][1000 genomes]
rs2098298	0.88[ASN][1000 genomes]
rs2114871	0.87[ASN][1000 genomes]
rs2192437	0.86[ASN][1000 genomes]
rs2268146	0.83[ASN][1000 genomes]
rs2401390	0.83[ASN][1000 genomes]
rs2401391	0.86[ASN][1000 genomes]
rs2401393	0.86[ASN][1000 genomes]
rs2401394	0.86[ASN][1000 genomes]
rs2401395	0.86[ASN][1000 genomes]
rs2894	0.87[ASN][1000 genomes]
rs2895988	0.87[ASN][1000 genomes]
rs4763283	0.84[ASN][1000 genomes]
rs4763840	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61915472	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs61915473	0.88[ASN][1000 genomes]
rs7296241	0.83[ASN][1000 genomes]
rs7306304	0.86[ASN][1000 genomes]
rs7306557	0.86[ASN][1000 genomes]
rs7307111	0.85[ASN][1000 genomes]
rs7310460	0.87[ASN][1000 genomes]
rs741199	0.83[ASN][1000 genomes]
rs741200	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7956831	0.86[ASN][1000 genomes]
rs7960328	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7964018	0.89[ASN][1000 genomes]
rs7970116	0.86[ASN][1000 genomes]
rs7973535	0.86[ASN][1000 genomes]
rs7973638	0.86[ASN][1000 genomes]
rs7974396	0.88[ASN][1000 genomes]
rs7976584	0.86[ASN][1000 genomes]
rs7977720	0.81[ASN][1000 genomes]
rs7977940	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs917911	0.82[ASN][1000 genomes]
rs917913	0.88[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	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv983235	chr12:9852218-9893776	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2757490	chr12:9855958-9888553	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4763839	CLEC2D	Cis_1M	lymphoblastoid	RTeQTL
rs4763839	CLECL1	Cis_1M	lymphoblastoid	RTeQTL
rs4763839	CLECL1	cis	Nerve Tibial	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9864600-9883800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr12:9878600-9886000	Active TSS	GM12878-XiMat	blood
3	chr12:9879200-9882800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:9881000-9884000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:9881600-9885600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:9882400-9883000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:9882600-9882800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr12:9882600-9882800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr12:9882600-9883000	Weak transcription	Primary B cells from cord blood	blood

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