Variant report

Variant	rs16933984
Chromosome Location	chr11:17372348-17372349
allele	G/T
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	MXI1	chr11:17372217-17373803	IMR90	lung:	n/a	n/a
2	RCOR1	chr11:17372301-17372652	K562	blood:	n/a	n/a
3	POLR2A	chr11:17371970-17373803	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:17368260..17372452-chr11:17372695..17374422,3	K562	blood:
2	chr11:17324227..17326282-chr11:17370624..17372568,2	K562	blood:
3	chr11:17294885..17299963-chr11:17371989..17377835,11	K562	blood:

Variant related genes	Relation type
NCR3LG1	TF binding region
ENSG00000070081	Chromatin interaction
ENSG00000188211	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10832782	0.92[YRI][hapmap]
rs11024272	0.87[LWK][hapmap];0.92[YRI][hapmap]
rs12791318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1989133	0.88[ASN][1000 genomes]
rs2018218	0.87[LWK][hapmap];0.92[YRI][hapmap]
rs2214286	0.92[ASN][1000 genomes]
rs2355016	0.81[AMR][1000 genomes]
rs2883548	0.86[ASN][1000 genomes]
rs34000454	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34258625	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34980243	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35246340	0.81[AMR][1000 genomes]
rs4433545	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4451707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756887	0.87[LWK][hapmap];0.92[YRI][hapmap]
rs4757509	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59134929	0.81[AMR][1000 genomes]
rs6486363	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7121987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7395803	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7480778	0.88[ASN][1000 genomes]
rs7937091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs16933984	ABCC8	cis	cerebellum	SCAN
rs16933984	RNU14	cis	multi-tissue	Pritchard
rs16933984	KCNJ11	cis	Esophagus Muscularis	GTEx
rs16933984	ABCC8	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17308200-17372600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:17320800-17372400	Weak transcription	GM12878-XiMat	blood
3	chr11:17336200-17372600	Weak transcription	HUVEC	blood vessel
4	chr11:17354400-17373000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:17354600-17372400	Weak transcription	Liver	Liver
6	chr11:17356000-17372400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:17356000-17372600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:17356000-17372600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:17356000-17372800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:17356000-17372800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:17356200-17372400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr11:17356200-17372400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:17356200-17372400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr11:17356200-17372600	Weak transcription	Adipose Nuclei	Adipose
15	chr11:17356200-17372800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:17356200-17372800	Weak transcription	Aorta	Aorta
17	chr11:17356200-17372800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:17356200-17372800	Weak transcription	Ovary	ovary
19	chr11:17356200-17373000	Weak transcription	Left Ventricle	heart
20	chr11:17356400-17373000	Weak transcription	Esophagus	oesophagus
21	chr11:17359000-17372400	Weak transcription	Brain Germinal Matrix	brain
22	chr11:17365400-17372600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:17365600-17372600	Weak transcription	Osteobl	bone
24	chr11:17365800-17372800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:17365800-17372800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:17365800-17372800	Weak transcription	NH-A	brain
27	chr11:17366000-17372600	Weak transcription	NHLF	lung
28	chr11:17366000-17372800	Weak transcription	HMEC	breast
29	chr11:17366200-17373000	Weak transcription	NHEK	skin
30	chr11:17366600-17372600	Weak transcription	Primary T cells from cord blood	blood
31	chr11:17368400-17372800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr11:17369600-17373200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:17369800-17372800	Weak transcription	HSMMtube	muscle
34	chr11:17371200-17372600	Weak transcription	Fetal Thymus	thymus
35	chr11:17371400-17372600	Weak transcription	Thymus	Thymus
36	chr11:17371600-17372400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:17371600-17372400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:17371600-17372400	Weak transcription	Dnd41	blood
39	chr11:17371600-17372600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:17372000-17372800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:17372200-17372400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr11:17372200-17372600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:17372200-17373000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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