Variant report

Variant	rs9645621
Chromosome Location	chr11:17333198-17333199
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	POLR2A	chr11:17332900-17333198	K562	blood:	n/a	n/a

Variant related genes	Relation type
NUCB2	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1002227	0.89[CEU][hapmap]
rs10219196	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10466382	1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10766383	1.00[CEU][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10766384	1.00[CEU][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10766385	1.00[CEU][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10766387	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10766389	0.90[CEU][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs10766391	0.90[CEU][hapmap]
rs10766393	0.90[CEU][hapmap]
rs10832757	1.00[CEU][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10832758	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10832759	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10832760	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10832762	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10832764	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10832765	1.00[CEU][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10832768	1.00[CEU][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10832769	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10832770	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10832771	0.89[EUR][1000 genomes]
rs10832779	0.90[CEU][hapmap]
rs11024244	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11024250	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11024251	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11024253	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11024254	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11024260	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11024273	1.00[ASW][hapmap]
rs11525338	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12225041	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2067043	1.00[ASW][hapmap]
rs2074312	1.00[ASW][hapmap]
rs3741203	0.90[CEU][hapmap]
rs4148638	0.83[CEU][hapmap]
rs4582955	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5218	1.00[LWK][hapmap]
rs9633836	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1836937	chr11:17291499-17339127	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv1799284	chr11:17299390-17343486	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1799280	chr11:17299390-17354775	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv1801731	chr11:17299390-17354775	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv897017	chr11:17318236-17343486	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1843677	chr11:17327038-17337413	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv553582	chr11:17327038-17337413	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1841973	chr11:17327038-17339127	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1851915	chr11:17327038-17343486	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs9645621	ABCC8	cis	cerebellum	SCAN
rs9645621	PTH	cis	cerebellum	SCAN
rs9645621	RP1-239B22.5	cis	Esophagus Mucosa	GTEx
rs9645621	KCNJ11	cis	cerebellum	SCAN
rs9645621	IGSF22	cis	cerebellum	SCAN
rs9645621	KCNJ11	cis	Esophagus Mucosa	GTEx
rs9645621	DKFZp686O24166	cis	cerebellum	SCAN
rs9645621	TSG101	cis	cerebellum	SCAN
rs9645621	NUCB2	cis	multi-tissue	Pritchard
rs9645621	NUCB2	cis	lymphoblastoid	seeQTL
rs9645621	NCR3LG1	cis	Esophagus Mucosa	GTEx
rs9645621	EBAG9	trans	parietal	SCAN
rs9645621	NUCB2	cis	cerebellum	SCAN
rs9645621	GTF2H1	cis	parietal	SCAN
rs9645621	ABCC8	cis	parietal	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17299000-17357200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:17299000-17357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:17299000-17360600	Weak transcription	Small Intestine	intestine
4	chr11:17299200-17357000	Weak transcription	Brain Substantia Nigra	brain
5	chr11:17299400-17338200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:17299400-17355400	Weak transcription	Brain Angular Gyrus	brain
7	chr11:17299400-17357000	Weak transcription	Fetal Intestine Large	intestine
8	chr11:17299600-17335000	Weak transcription	Primary B cells from cord blood	blood
9	chr11:17300200-17335000	Weak transcription	Fetal Brain Male	brain
10	chr11:17301600-17350400	Weak transcription	Fetal Heart	heart
11	chr11:17306200-17353000	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:17307800-17333600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:17308200-17335800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:17308200-17353600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:17308200-17357600	Weak transcription	HepG2	liver
16	chr11:17308200-17360800	Strong transcription	Fetal Thymus	thymus
17	chr11:17308200-17372600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:17308400-17335000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:17308400-17335000	Weak transcription	NHLF	lung
20	chr11:17308400-17356800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:17308400-17361600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:17309000-17355600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:17309400-17335200	Weak transcription	Psoas Muscle	Psoas
24	chr11:17312200-17355400	Weak transcription	Fetal Kidney	kidney
25	chr11:17313800-17335400	Weak transcription	HSMMtube	muscle
26	chr11:17314200-17353400	Weak transcription	Stomach Mucosa	stomach
27	chr11:17314400-17335000	Strong transcription	Dnd41	blood
28	chr11:17315200-17335000	Weak transcription	Colonic Mucosa	Colon
29	chr11:17315400-17335000	Weak transcription	Spleen	Spleen
30	chr11:17315400-17353400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:17316000-17335200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:17316000-17360000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:17316000-17361000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:17316400-17347600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:17316600-17349800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:17318400-17355600	Weak transcription	Gastric	stomach
37	chr11:17318600-17350400	Weak transcription	Right Ventricle	heart
38	chr11:17318600-17353600	Weak transcription	Brain Anterior Caudate	brain
39	chr11:17318800-17334600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:17319000-17335200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:17319000-17336600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr11:17319000-17356400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:17319400-17334600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:17320200-17349800	Weak transcription	Esophagus	oesophagus
45	chr11:17320600-17334600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:17320600-17349800	Weak transcription	Fetal Intestine Small	intestine
47	chr11:17320800-17372400	Weak transcription	GM12878-XiMat	blood
48	chr11:17322000-17335200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr11:17322600-17356200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:17323000-17337000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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