Variant report

Variant	rs9736354
Chromosome Location	chr11:62407483-62407484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62407437-62408649	K562	blood:	n/a	n/a
2	POLR2A	chr11:62406354-62407703	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62406639..62408518-chr11:62439186..62440899,2	K562	blood:
2	chr11:62407005..62417562-chr11:62426315..62441135,36	MCF-7	breast:
3	chr11:62399453..62402282-chr11:62406868..62410378,5	K562	blood:
4	chr11:62391785..62394595-chr11:62407451..62410585,3	MCF-7	breast:
5	chr11:62406204..62408015-chr11:62420422..62422888,2	K562	blood:
6	chr11:62387105..62391149-chr11:62405419..62408031,3	K562	blood:
7	chr11:62396871..62398840-chr11:62407356..62408928,2	MCF-7	breast:
8	chr11:62406539..62408693-chr11:62437828..62440154,2	MCF-7	breast:
9	chr11:62388412..62391284-chr11:62406977..62410339,6	K562	blood:
10	chr11:62403450..62410109-chr11:62410421..62417583,11	K562	blood:
11	chr11:62399447..62402282-chr11:62406924..62408873,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ROM1-5	chr11:62407290-62407495	expReg_chr11_5192_+

No data

Variant related genes	Relation type
GANAB	TF binding region
ENSG00000185085	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000149541	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10792355	0.87[ASN][1000 genomes]
rs10792356	0.84[ASN][1000 genomes]
rs10897289	0.82[ASN][1000 genomes]
rs11231172	0.97[ASN][1000 genomes]
rs11231173	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11231181	0.94[ASN][1000 genomes]
rs11231182	0.84[ASN][1000 genomes]
rs11231183	0.84[ASN][1000 genomes]
rs11231184	0.86[ASN][1000 genomes]
rs12291465	0.84[ASN][1000 genomes]
rs12364753	0.94[ASN][1000 genomes]
rs12364756	0.94[ASN][1000 genomes]
rs13941	0.84[ASN][1000 genomes]
rs17637597	0.94[ASN][1000 genomes]
rs1893458	0.87[ASN][1000 genomes]
rs2956993	0.87[ASN][1000 genomes]
rs2956995	0.87[ASN][1000 genomes]
rs3017188	0.81[ASN][1000 genomes]
rs3809079	0.84[ASN][1000 genomes]
rs4489748	0.94[ASN][1000 genomes]
rs489778	0.84[ASN][1000 genomes]
rs597259	0.84[ASN][1000 genomes]
rs60435036	0.97[ASN][1000 genomes]
rs661182	0.87[ASN][1000 genomes]
rs67909703	0.92[ASN][1000 genomes]
rs693698	0.84[ASN][1000 genomes]
rs7122950	0.81[ASN][1000 genomes]
rs71490396	0.87[ASN][1000 genomes]
rs71490397	0.89[ASN][1000 genomes]
rs7949030	0.82[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	nsv825939	chr11:62326083-62410577	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
6	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
7	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9736354	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	chr11:62390000-62413200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:62390400-62411800	Strong transcription	Fetal Intestine Small	intestine
3	chr11:62390600-62408600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:62390600-62412600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:62390800-62407600	Strong transcription	Osteobl	bone
6	chr11:62390800-62412400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:62390800-62412400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:62391000-62408600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:62391000-62408800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:62391000-62412000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:62391200-62412400	Strong transcription	Fetal Stomach	stomach
12	chr11:62392000-62407800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:62392000-62409200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:62392000-62409200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:62392400-62407600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:62392400-62407600	Strong transcription	Fetal Thymus	thymus
17	chr11:62392400-62411800	Strong transcription	Fetal Muscle Leg	muscle
18	chr11:62392600-62407600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:62392600-62407600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:62392600-62407600	Strong transcription	Fetal Intestine Large	intestine
21	chr11:62392600-62407600	Strong transcription	Dnd41	blood
22	chr11:62392600-62408600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr11:62392600-62408600	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:62392800-62407600	Strong transcription	NHEK	skin
25	chr11:62400400-62412400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:62400600-62412600	Weak transcription	Fetal Heart	heart
27	chr11:62401800-62410200	Weak transcription	Stomach Mucosa	stomach
28	chr11:62402200-62413000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:62402600-62412400	Weak transcription	Small Intestine	intestine
30	chr11:62402600-62412600	Weak transcription	Esophagus	oesophagus
31	chr11:62404400-62411400	Strong transcription	HSMM	muscle
32	chr11:62404600-62407600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr11:62404600-62409200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr11:62405000-62408600	Strong transcription	Hela-S3	cervix
35	chr11:62405400-62413000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:62406000-62413000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:62406800-62410200	Weak transcription	HUVEC	blood vessel
38	chr11:62406800-62412400	Weak transcription	Fetal Brain Male	brain
39	chr11:62406800-62413000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:62407000-62407600	Genic enhancers	Thymus	Thymus
41	chr11:62407000-62408400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:62407000-62409200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:62407000-62411800	Weak transcription	Colonic Mucosa	Colon
44	chr11:62407000-62412000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:62407000-62412000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:62407000-62412400	Weak transcription	Right Atrium	heart
47	chr11:62407000-62412600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:62407200-62407800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:62407200-62409000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr11:62407200-62409600	Enhancers	Primary T helper cells fromperipheralblood	blood

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