Variant report

Variant	rs11863903
Chromosome Location	chr16:31364909-31364910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:31190068..31192732-chr16:31364834..31366748,2	MCF-7	breast:
2	chr16:31364585..31367756-chr16:31369594..31371710,3	K562	blood:
3	chr16:31191175..31193131-chr16:31364382..31367193,2	K562	blood:

Variant related genes	Relation type
ENSG00000140678	Chromatin interaction
ENSG00000089280	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11574632	0.93[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11574635	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11861251	0.81[GIH][hapmap]
rs13336235	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2230428	0.94[CEU][hapmap];1.00[AMR][1000 genomes]
rs58200984	0.88[EUR][1000 genomes]
rs62051523	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
4	nsv1058992	chr16:31337455-31414881	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv542902	chr16:31337455-31414881	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1061980	chr16:31338462-31415471	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11863903	TBX6	cis	parietal	SCAN
rs11863903	ZNF48	cis	cerebellum	SCAN
rs11863903	DOC2A	cis	cerebellum	SCAN
rs11863903	ITGAX	cis	cerebellum	SCAN
rs11863903	YPEL3	cis	cerebellum	SCAN
rs11863903	RABEP2	cis	cerebellum	SCAN
rs11863903	PRR14	cis	parietal	SCAN
rs11863903	STX1B	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31343000-31400800	Weak transcription	Right Atrium	heart
2	chr16:31355600-31365600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr16:31358600-31366400	Enhancers	Primary B cells from peripheral blood	blood
4	chr16:31358800-31366000	Enhancers	Primary hematopoietic stem cells	blood
5	chr16:31359000-31365600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr16:31361200-31368000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr16:31363600-31365000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr16:31363600-31366000	Weak transcription	A549	lung
9	chr16:31363800-31365600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:31363800-31365600	Enhancers	GM12878-XiMat	blood
11	chr16:31363800-31365800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:31363800-31366000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr16:31363800-31368200	Weak transcription	Fetal Muscle Leg	muscle
14	chr16:31364000-31365600	Enhancers	Primary B cells from cord blood	blood
15	chr16:31364200-31365200	Weak transcription	Fetal Thymus	thymus
16	chr16:31364200-31366800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr16:31364200-31367400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr16:31364400-31365600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:31364400-31365800	Weak transcription	Brain Hippocampus Middle	brain
20	chr16:31364400-31370200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr16:31364600-31365800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:31364800-31365600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr16:31364800-31365600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr16:31364800-31365600	Weak transcription	Pancreas	Pancrea
25	chr16:31364800-31365800	Weak transcription	Spleen	Spleen
26	chr16:31364800-31366200	Weak transcription	Fetal Muscle Trunk	muscle

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