Variant report

Variant	rs4757512
Chromosome Location	chr11:17406051-17406052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17405197..17406140-chr11:17492660..17493631,2	K562	blood:
2	chr11:17405649..17406157-chr11:17617828..17618472,2	MCF-7	breast:
3	chr11:17405241..17406227-chr11:17551569..17552408,2	MCF-7	breast:
4	chr11:17405241..17406080-chr11:17492901..17493668,2	MCF-7	breast:
5	chr11:17405620..17406191-chr11:17521835..17522724,2	K562	blood:
6	chr11:17405950..17408117-chr11:17411030..17412540,2	K562	blood:
7	chr11:17405141..17406113-chr11:17549390..17550226,4	K562	blood:
8	chr11:17405389..17406159-chr11:17523565..17524770,3	K562	blood:
9	chr11:17401527..17405179-chr11:17405771..17408702,5	K562	blood:
10	chr11:17405274..17406188-chr11:17494608..17495575,4	MCF-7	breast:
11	chr11:17373252..17376530-chr11:17405235..17408726,4	K562	blood:
12	chr11:17399571..17401205-chr11:17403779..17406500,2	K562	blood:
13	chr11:17403459..17406167-chr11:17526057..17528257,2	K562	blood:
14	chr11:17404201..17406453-chr11:17548482..17550709,2	K562	blood:
15	chr11:17405170..17406511-chr11:17549006..17550272,4	MCF-7	breast:
16	chr11:17405333..17406124-chr11:17519578..17520279,2	MCF-7	breast:
17	chr11:17405209..17406183-chr11:17527113..17528432,4	MCF-7	breast:
18	chr11:17405017..17406217-chr11:17525833..17526983,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000006611	Chromatin interaction
ENSG00000260196	Chromatin interaction
ENSG00000188211	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10766395	0.81[AFR][1000 genomes]
rs10832785	0.90[LWK][hapmap];0.93[YRI][hapmap]
rs1109591	0.81[JPT][hapmap];0.84[TSI][hapmap]
rs11604345	0.90[ASN][1000 genomes]
rs12791318	0.80[ASW][hapmap]
rs1799859	0.85[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2285676	0.93[LWK][hapmap];0.96[YRI][hapmap]
rs2355016	0.83[ASN][1000 genomes]
rs4148641	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs4148642	0.83[ASN][1000 genomes]
rs4148644	0.90[ASN][1000 genomes]
rs7118875	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs739689	0.85[CHB][hapmap];0.89[JPT][hapmap];0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs886288	0.82[LWK][hapmap];0.89[YRI][hapmap]

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	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
2	nsv467712	chr11:17393644-17418477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv553583	chr11:17393644-17418477	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv517772	chr11:17401134-17427862	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv897018	chr11:17403639-17417337	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv528959	chr11:17403639-17435214	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv540951	chr11:17404438-17422755	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4757512	ABCC8	cis	cerebellum	SCAN
rs4757512	ABCC8	cis	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17394200-17407600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:17394400-17410200	Weak transcription	A549	lung
3	chr11:17395200-17410200	Weak transcription	Thymus	Thymus
4	chr11:17395600-17406200	Weak transcription	Pancreas	Pancrea
5	chr11:17395600-17410200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:17395600-17410400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:17395800-17409200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:17396000-17408800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:17396600-17410200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:17397200-17407800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:17398200-17410200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:17398800-17410200	Weak transcription	Primary T cells from cord blood	blood
13	chr11:17400600-17408000	Strong transcription	Fetal Intestine Small	intestine
14	chr11:17400600-17408800	Weak transcription	Brain Germinal Matrix	brain
15	chr11:17400800-17407200	Weak transcription	Fetal Brain Female	brain
16	chr11:17400800-17410200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:17401000-17410200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:17401200-17407200	Weak transcription	Lung	lung
19	chr11:17401600-17410200	Weak transcription	Hela-S3	cervix
20	chr11:17401600-17410200	Weak transcription	K562	blood
21	chr11:17401800-17407400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:17401800-17407400	Weak transcription	HepG2	liver
23	chr11:17401800-17410200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:17402000-17410200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:17402000-17410200	Weak transcription	HMEC	breast
26	chr11:17402400-17407800	Weak transcription	Fetal Intestine Large	intestine
27	chr11:17403000-17410400	Weak transcription	Aorta	Aorta
28	chr11:17403200-17406200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:17403600-17408600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr11:17403800-17410400	Weak transcription	HSMMtube	muscle
31	chr11:17404000-17408000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:17404200-17410200	Weak transcription	HSMM	muscle
33	chr11:17404400-17407600	Weak transcription	Right Atrium	heart
34	chr11:17405000-17408600	Enhancers	Brain Angular Gyrus	brain
35	chr11:17405200-17407400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:17405200-17412000	Enhancers	Fetal Brain Male	brain
37	chr11:17405400-17406200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:17405400-17407000	Enhancers	Fetal Muscle Trunk	muscle
39	chr11:17405400-17407000	Enhancers	Psoas Muscle	Psoas
40	chr11:17405400-17407200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:17405400-17407600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr11:17405400-17408200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr11:17405400-17409800	Transcr. at gene 5' and 3'	Dnd41	blood
44	chr11:17405600-17407200	Weak transcription	Fetal Heart	heart
45	chr11:17405600-17407200	Enhancers	Fetal Muscle Leg	muscle
46	chr11:17405600-17408800	Weak transcription	Esophagus	oesophagus
47	chr11:17405600-17409200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
48	chr11:17405800-17406200	Genic enhancers	Gastric	stomach
49	chr11:17405800-17406400	Enhancers	Right Ventricle	heart
50	chr11:17406000-17406600	Weak transcription	Brain Anterior Caudate	brain

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