Variant report

Variant	rs7122950
Chromosome Location	chr11:62385368-62385369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62384143-62385511	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62383816..62385451-chr11:62431181..62433076,2	MCF-7	breast:
2	chr11:62375885..62391030-chr11:62428132..62435550,30	MCF-7	breast:
3	chr11:62384891..62391618-chr11:62430274..62437661,19	K562	blood:
4	chr11:62383739..62386318-chr11:62607404..62609862,3	MCF-7	breast:
5	chr11:62379915..62385772-chr11:62411575..62415305,8	MCF-7	breast:
6	chr11:62383895..62386854-chr11:62413900..62415919,2	K562	blood:
7	chr11:62385249..62394022-chr11:62430274..62439840,30	K562	blood:

No data

Variant related genes	Relation type
B3GAT3	TF binding region
ENSG00000133316	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000204922	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11231172	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11231173	0.83[ASN][1000 genomes]
rs11231181	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12364753	0.80[ASN][1000 genomes]
rs12364756	0.80[ASN][1000 genomes]
rs17637597	0.80[ASN][1000 genomes]
rs2957122	0.80[ASN][1000 genomes]
rs3923805	0.82[EUR][1000 genomes]
rs4264155	0.84[EUR][1000 genomes]
rs4489748	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs60435036	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs67909703	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72927237	0.85[EUR][1000 genomes]
rs9736354	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv897622	chr11:62366986-62392229	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7122950	EML3	cis	Whole Blood	GTEx
rs7122950	EML3	cis	Esophagus Mucosa	GTEx
rs7122950	MTA2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62380000-62386600	Weak transcription	GM12878-XiMat	blood
2	chr11:62380400-62386600	Weak transcription	HSMMtube	muscle
3	chr11:62380600-62387800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:62380600-62388000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:62380600-62388000	Weak transcription	Psoas Muscle	Psoas
6	chr11:62380600-62388200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:62380600-62388400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:62380800-62387800	Weak transcription	HSMM	muscle
9	chr11:62380800-62388200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:62380800-62388200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:62380800-62388400	Weak transcription	Right Atrium	heart
12	chr11:62381000-62387800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:62381000-62387800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:62381000-62387800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:62381000-62387800	Weak transcription	HUVEC	blood vessel
16	chr11:62381000-62387800	Weak transcription	NH-A	brain
17	chr11:62381000-62388000	Weak transcription	Fetal Brain Male	brain
18	chr11:62381000-62388200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:62381000-62388200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:62381000-62388200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:62381000-62388600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:62381200-62386000	Strong transcription	Fetal Muscle Leg	muscle
23	chr11:62381200-62387000	Strong transcription	Fetal Thymus	thymus
24	chr11:62381200-62388000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:62381800-62385400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:62382000-62385400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:62382000-62385400	Strong transcription	Spleen	Spleen
28	chr11:62382000-62386000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr11:62382000-62387200	Strong transcription	Fetal Stomach	stomach
30	chr11:62382000-62388000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:62382000-62388200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:62382200-62385400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:62382200-62385800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:62382200-62385800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:62382200-62386400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:62382200-62387200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:62382200-62388200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:62382400-62385400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:62382400-62385800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr11:62382400-62386600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:62382400-62387200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:62382600-62385400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:62382600-62386600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:62382800-62385400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:62382800-62386800	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:62382800-62387200	Strong transcription	Fetal Intestine Small	intestine
47	chr11:62383000-62385800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:62383000-62387800	Weak transcription	Hela-S3	cervix
49	chr11:62383000-62388000	Weak transcription	HepG2	liver
50	chr11:62383600-62385400	Strong transcription	Brain Anterior Caudate	brain

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