Variant report

Variant	rs10792356
Chromosome Location	chr11:62440823-62440824
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr11:62440790-62440846	K562	blood:	n/a	n/a
2	NR2F2	chr11:62438637-62441039	K562	blood:	n/a	chr11:62440899-62440914
3	POLR2A	chr11:62440585-62440970	HCT-116	colon:	n/a	n/a
4	POLR2A	chr11:62438305-62440878	GM12878	blood:	n/a	n/a
5	MAX	chr11:62438296-62440838	K562	blood:	n/a	n/a
6	RCOR1	chr11:62440430-62440847	K562	blood:	n/a	n/a
7	MYC	chr11:62440738-62440915	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr11:62438360-62440881	K562	blood:	n/a	n/a
9	POLR2A	chr11:62440470-62440943	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr11:62438051-62443358	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:62440223-62441680	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr11:62440556-62441032	K562	blood:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62439396..62442145-chr11:62455963..62458544,3	K562	blood:
2	chr11:62437407..62441142-chr11:62472174..62474632,6	K562	blood:
3	chr11:62437394..62440869-chr11:62646713..62650476,3	MCF-7	breast:
4	chr11:62437831..62441395-chr11:62457569..62460613,4	MCF-7	breast:
5	chr11:62337874..62344185-chr11:62431132..62441783,22	K562	blood:
6	chr11:62436186..62443328-chr11:62605173..62609692,11	MCF-7	breast:
7	chr11:62437179..62441189-chr11:62491770..62496446,10	K562	blood:
8	chr11:62439170..62442094-chr11:62464608..62467009,3	MCF-7	breast:
9	chr11:62388014..62391477-chr11:62437916..62440907,4	MCF-7	breast:
10	chr11:62339404..62343149-chr11:62437801..62441524,6	MCF-7	breast:
11	chr11:62365089..62370067-chr11:62436026..62441323,7	K562	blood:
12	chr11:62357319..62360814-chr11:62437164..62440854,7	K562	blood:
13	chr11:62439709..62441455-chr11:62571415..62573029,2	K562	blood:
14	chr11:62438216..62442259-chr11:62472089..62478443,13	MCF-7	breast:
15	chr11:62430854..62442244-chr11:62606149..62611424,26	K562	blood:
16	chr11:62362631..62371847-chr11:62427548..62442313,26	MCF-7	breast:
17	chr11:62357319..62362043-chr11:62437125..62441010,6	K562	blood:
18	chr11:62355264..62375429-chr11:62428418..62443271,77	MCF-7	breast:
19	chr11:62436333..62448417-chr11:62605662..62610542,19	K562	blood:
20	chr11:62429368..62441438-chr11:62488512..62498189,36	K562	blood:
21	chr11:62368131..62371520-chr11:62438403..62441108,5	K562	blood:
22	chr11:62438822..62440835-chr11:62555100..62556729,2	K562	blood:
23	chr11:62313391..62315113-chr11:62438987..62440868,2	MCF-7	breast:
24	chr11:62439100..62442591-chr11:62606369..62609762,6	MCF-7	breast:
25	chr11:62431330..62441336-chr11:62489515..62497875,29	MCF-7	breast:
26	chr11:62437834..62441678-chr11:62528022..62529597,3	MCF-7	breast:
27	chr11:62407005..62417562-chr11:62426315..62441135,36	MCF-7	breast:
28	chr11:62160291..62162827-chr11:62438935..62440917,2	K562	blood:
29	chr11:62373213..62384382-chr11:62430946..62441432,32	K562	blood:
30	chr11:62406639..62408518-chr11:62439186..62440899,2	K562	blood:

No data

Variant related genes	Relation type
C11orf48	TF binding region
ENSG00000089597	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000149489	Chromatin interaction
ENSG00000257058	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000255126	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000177363	Chromatin interaction
ENSG00000168002	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000254964	Chromatin interaction
ENSG00000168000	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10792355	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10897289	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs11231161	0.82[JPT][hapmap]
rs11231172	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11231173	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11231176	0.95[CEU][hapmap];0.86[CHB][hapmap];0.95[EUR][1000 genomes]
rs11231181	0.91[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11231182	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231184	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12291465	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12364753	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12364756	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17637597	0.91[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1893458	0.97[ASN][1000 genomes]
rs2956993	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2956995	0.97[ASN][1000 genomes]
rs2957122	0.88[ASN][1000 genomes]
rs2958236	0.88[ASN][1000 genomes]
rs3017188	0.90[ASN][1000 genomes]
rs3017666	0.82[ASN][1000 genomes]
rs3018561	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3809079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4489748	0.95[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs489778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs597259	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60435036	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs644616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs661182	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67909703	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs693698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128852	0.81[ASN][1000 genomes]
rs71490396	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71490397	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7949030	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9736354	0.84[ASN][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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
5	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
6	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
7	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10792356	EML3	cis	uninvolved skin	skin_eQTL
rs10792356	EML3	cis	multi-tissue	Pritchard
rs10792356	B3GAT3	cis	Esophagus Muscularis	GTEx
rs10792356	EML3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62438600-62441200	Active TSS	Rectal Smooth Muscle	rectum
2	chr11:62439800-62441200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:62439800-62445800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:62440000-62441000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:62440000-62441000	Flanking Active TSS	Hela-S3	cervix
6	chr11:62440000-62441400	Enhancers	Fetal Heart	heart
7	chr11:62440000-62442000	Weak transcription	HSMMtube	muscle
8	chr11:62440000-62443800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:62440000-62443800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:62440000-62443800	Weak transcription	Aorta	Aorta
11	chr11:62440000-62443800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:62440000-62444000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:62440000-62444000	Weak transcription	Ovary	ovary
14	chr11:62440000-62445400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:62440000-62445600	Weak transcription	Fetal Kidney	kidney
16	chr11:62440200-62441000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:62440200-62441000	Enhancers	Primary B cells from cord blood	blood
18	chr11:62440200-62441000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr11:62440200-62441000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:62440200-62441200	Genic enhancers	Fetal Thymus	thymus
21	chr11:62440200-62441400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:62440200-62441800	Weak transcription	Fetal Brain Male	brain
23	chr11:62440200-62442000	Weak transcription	NH-A	brain
24	chr11:62440200-62443800	Weak transcription	Psoas Muscle	Psoas
25	chr11:62440200-62445000	Weak transcription	Right Atrium	heart
26	chr11:62440200-62445600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:62440400-62441000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
28	chr11:62440400-62441000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:62440400-62441000	Enhancers	Liver	Liver
30	chr11:62440400-62441000	Genic enhancers	Fetal Muscle Leg	muscle
31	chr11:62440400-62441000	Genic enhancers	Rectal Mucosa Donor 29	rectum
32	chr11:62440400-62441000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr11:62440400-62441000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
34	chr11:62440400-62441000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
35	chr11:62440400-62441000	Transcr. at gene 5' and 3'	A549	lung
36	chr11:62440400-62441000	Transcr. at gene 5' and 3'	K562	blood
37	chr11:62440400-62441200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:62440400-62441200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr11:62440400-62441200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr11:62440400-62441200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:62440400-62441200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:62440400-62441200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr11:62440400-62441200	Enhancers	Right Ventricle	heart
44	chr11:62440400-62441400	Genic enhancers	Primary monocytes fromperipheralblood	blood
45	chr11:62440400-62441400	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:62440400-62441400	Genic enhancers	Monocytes-CD14+_RO01746	blood
47	chr11:62440400-62441600	Genic enhancers	Adipose Nuclei	Adipose
48	chr11:62440400-62444800	Weak transcription	Stomach Mucosa	stomach
49	chr11:62440400-62445000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:62440400-62445200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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