Variant report

Variant	rs11042892
Chromosome Location	chr11:10619419-10619420
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	CEBPB	chr11:10619351-10619650	Hela-S3	cervix:	n/a	chr11:10619489-10619500
2	ATF3	chr11:10619258-10619709	K562	blood:	n/a	n/a
3	CEBPB	chr11:10619335-10619598	K562	blood:	n/a	chr11:10619489-10619500
4	TBL1XR1	chr11:10619380-10619701	K562	blood:	n/a	n/a
5	CEBPB	chr11:10619338-10619673	H1-hESC	embryonic stem cell:	n/a	chr11:10619489-10619500
6	CEBPB	chr11:10619326-10619677	A549	lung:	n/a	chr11:10619489-10619500
7	ATF3	chr11:10619354-10619615	H1-hESC	embryonic stem cell:	n/a	n/a
8	FOS	chr11:10619416-10619535	MCF10A-Er-Src	breast:	n/a	n/a
9	CEBPB	chr11:10619314-10619685	IMR90	lung:	n/a	chr11:10619489-10619500
10	JUN	chr11:10619178-10619822	K562	blood:	n/a	n/a
11	JUND	chr11:10619334-10619803	K562	blood:	n/a	n/a
12	JUND	chr11:10619376-10619657	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr11:10619304-10619699	K562	blood:	n/a	chr11:10619489-10619500
14	CEBPB	chr11:10619310-10619684	HepG2	liver:	n/a	chr11:10619489-10619500
15	CEBPD	chr11:10619302-10619756	K562	blood:	n/a	chr11:10619490-10619501
16	JUND	chr11:10619357-10619639	HepG2	liver:	n/a	n/a
17	CEBPB	chr11:10619320-10619658	A549	lung:	n/a	chr11:10619489-10619500
18	ATF1	chr11:10619343-10619651	K562	blood:	n/a	n/a
19	MYC	chr11:10619361-10619580	K562	blood:	n/a	chr11:10619492-10619501
20	CEBPB	chr11:10619262-10619669	K562	blood:	n/a	chr11:10619489-10619500
21	SPI1	chr11:10619349-10619985	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:10617278..10621445-chr11:10622664..10626512,4	K562	blood:
2	chr11:10613275..10616271-chr11:10616850..10619846,3	K562	blood:
3	chr11:10618512..10620959-chr11:10622664..10624993,2	K562	blood:
4	chr11:10618598..10620933-chr11:10630778..10632492,2	K562	blood:
5	chr11:10613644..10615789-chr11:10618346..10620167,2	K562	blood:

Variant related genes	Relation type
MRVI1	TF binding region
ENSG00000177112	Chromatin interaction
ENSG00000072952	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10500725	0.81[JPT][hapmap]
rs11042865	0.81[JPT][hapmap]
rs11042866	0.81[JPT][hapmap]
rs12448	0.81[JPT][hapmap]
rs4146830	0.81[JPT][hapmap]
rs4243915	0.86[JPT][hapmap]
rs7105657	0.85[ASN][1000 genomes]
rs7131588	0.91[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs728528	0.91[CEU][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.81[ASN][1000 genomes]
rs7939044	0.91[CEU][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs9300104	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv832063	chr11:10618485-10785281	ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11042892	AMPD3	cis	cerebellum	SCAN
rs11042892	MRVI1	cis	multi-tissue	Pritchard
rs11042892	MRVI1	cis	normal skin	skin_eQTL
rs11042892	RNF141	cis	parietal	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10586400-10620400	Weak transcription	Brain Anterior Caudate	brain
2	chr11:10592400-10622600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:10595000-10629600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:10595000-10632800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:10597200-10625800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:10603600-10621800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:10605200-10620400	Weak transcription	Fetal Thymus	thymus
8	chr11:10605800-10622200	Weak transcription	Spleen	Spleen
9	chr11:10606000-10620400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:10607400-10626000	Weak transcription	Fetal Lung	lung
11	chr11:10608800-10625400	Weak transcription	Adipose Nuclei	Adipose
12	chr11:10609600-10619600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:10609600-10620800	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:10611600-10625000	Weak transcription	Brain Substantia Nigra	brain
15	chr11:10613400-10620600	Weak transcription	Lung	lung
16	chr11:10613800-10620600	Weak transcription	Psoas Muscle	Psoas
17	chr11:10614000-10621200	Weak transcription	HSMMtube	muscle
18	chr11:10614800-10620000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:10615000-10621000	Weak transcription	Fetal Kidney	kidney
20	chr11:10615000-10621200	Weak transcription	NHLF	lung
21	chr11:10615000-10625600	Weak transcription	Osteobl	bone
22	chr11:10615200-10620600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:10615200-10625600	Weak transcription	NHDF-Ad	bronchial
24	chr11:10615800-10625600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:10616000-10620600	Weak transcription	Ovary	ovary
26	chr11:10616000-10620800	Weak transcription	Fetal Intestine Large	intestine
27	chr11:10616000-10621000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:10616000-10621400	Weak transcription	Fetal Intestine Small	intestine
29	chr11:10616000-10622200	Weak transcription	Esophagus	oesophagus
30	chr11:10616200-10621400	Weak transcription	Hela-S3	cervix
31	chr11:10616400-10620200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:10616800-10625400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:10616800-10625400	Weak transcription	HMEC	breast
34	chr11:10617000-10621000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:10617400-10623400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:10617600-10626800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr11:10617600-10627600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:10617800-10620000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr11:10618400-10619800	Strong transcription	Aorta	Aorta
40	chr11:10618400-10619800	Enhancers	Placenta	Placenta
41	chr11:10618400-10620000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr11:10618400-10621600	Enhancers	Primary B cells from cord blood	blood
43	chr11:10618600-10619600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:10618800-10620600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr11:10618800-10620800	Strong transcription	Fetal Stomach	stomach
46	chr11:10618800-10621400	Enhancers	Primary hematopoietic stem cells	blood
47	chr11:10619000-10620000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr11:10619000-10620400	Strong transcription	Colon Smooth Muscle	Colon
49	chr11:10619200-10620000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:10619200-10620000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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