Variant report

Variant	rs60435036
Chromosome Location	chr11:62423901-62423902
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62400682..62403654-chr11:62422821..62424454,2	MCF-7	breast:
2	chr11:62420876..62422423-chr11:62422873..62424832,2	MCF-7	breast:
3	chr11:62419322..62423908-chr11:62471994..62474725,4	K562	blood:
4	chr11:62374823..62376750-chr11:62423341..62425840,2	MCF-7	breast:
5	chr11:62422408..62424518-chr11:62471615..62474470,2	K562	blood:
6	chr11:62423111..62424744-chr11:62606858..62609420,2	K562	blood:

Variant related genes	Relation type
ENSG00000149499	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000168000	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10792355	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10792356	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10897289	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11231172	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231173	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11231176	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11231181	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11231182	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11231183	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11231184	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12291465	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12364753	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12364756	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13941	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17637597	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1893458	0.90[ASN][1000 genomes]
rs2956993	0.90[ASN][1000 genomes]
rs2956995	0.90[ASN][1000 genomes]
rs2957122	0.80[ASN][1000 genomes]
rs2958236	0.80[ASN][1000 genomes]
rs3017188	0.83[ASN][1000 genomes]
rs3809079	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4489748	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs489778	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs597259	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs661182	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67909703	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs693698	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7122950	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs71462310	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71490396	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71490397	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7949030	0.84[ASN][1000 genomes]
rs9736354	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60435036	EML3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62420800-62430200	Weak transcription	Gastric	stomach
2	chr11:62420800-62431600	Weak transcription	Small Intestine	intestine
3	chr11:62421000-62428200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:62421200-62428400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:62421200-62429000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:62421200-62429000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:62421200-62429200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:62421200-62429200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:62421200-62429400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:62421200-62429600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:62421200-62429600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:62421200-62429600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:62421200-62429600	Weak transcription	Left Ventricle	heart
14	chr11:62421200-62429600	Weak transcription	Lung	lung
15	chr11:62421200-62429600	Weak transcription	NHLF	lung
16	chr11:62421200-62429800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:62421200-62429800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:62421200-62429800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:62421200-62429800	Weak transcription	HMEC	breast
20	chr11:62421200-62430000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:62421200-62430000	Weak transcription	Spleen	Spleen
22	chr11:62421200-62430000	Weak transcription	HSMMtube	muscle
23	chr11:62421200-62430200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:62421200-62430200	Weak transcription	HSMM	muscle
25	chr11:62421200-62430600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:62421200-62430600	Weak transcription	Fetal Brain Male	brain
27	chr11:62421200-62431600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:62421200-62431600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:62421200-62431600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:62421200-62431600	Weak transcription	NHDF-Ad	bronchial
31	chr11:62421200-62432000	Weak transcription	Aorta	Aorta
32	chr11:62421200-62432000	Weak transcription	Brain Substantia Nigra	brain
33	chr11:62421200-62432000	Weak transcription	Esophagus	oesophagus
34	chr11:62421200-62432000	Weak transcription	Ovary	ovary
35	chr11:62421200-62432000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:62421400-62424200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:62421400-62424400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:62421400-62424600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:62421400-62427800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:62421400-62427800	Weak transcription	Fetal Intestine Large	intestine
41	chr11:62421400-62428200	Weak transcription	Fetal Intestine Small	intestine
42	chr11:62421400-62428400	Weak transcription	Fetal Stomach	stomach
43	chr11:62421400-62428800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:62421400-62429000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:62421400-62429000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:62421400-62429000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:62421400-62429000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:62421400-62429000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:62421400-62429000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:62421400-62429000	Weak transcription	Liver	Liver

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