Variant report

Variant	rs7937146
Chromosome Location	chr11:62331880-62331881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62330055..62332907-chr11:62333476..62335055,2	MCF-7	breast:
2	chr11:62326979..62329934-chr11:62331462..62336636,5	K562	blood:
3	chr11:62328250..62330762-chr11:62331688..62334513,2	K562	blood:
4	chr11:62326831..62332617-chr11:62337718..62342722,6	MCF-7	breast:
5	chr11:62330159..62332860-chr11:62333540..62336351,2	K562	blood:
6	chr11:62319256..62325692-chr11:62326835..62334390,9	K562	blood:
7	chr11:62331068..62332872-chr11:62341965..62344384,2	K562	blood:

Variant related genes	Relation type
ENSG00000255508	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000254772	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1061093	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11231137	0.87[ASN][1000 genomes]
rs11231138	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11231141	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11231144	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11231145	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11231150	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11231151	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11231152	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11231154	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11231155	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11231156	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11231161	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11553576	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12049914	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12225213	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12808829	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17773169	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1801144	0.83[EUR][1000 genomes]
rs2428548	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2428549	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2428551	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2509961	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2509967	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2509982	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2512562	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2512563	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2516634	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2849030	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2849031	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34894392	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35587183	0.90[ASN][1000 genomes]
rs35880596	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58720921	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60098285	0.90[ASN][1000 genomes]
rs61296092	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7124057	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71490390	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71490392	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71490394	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72927213	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7928833	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7930896	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7942154	0.90[ASN][1000 genomes]
rs7942991	0.90[ASN][1000 genomes]
rs7943191	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv347	chr11:62297068-62338927	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active 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	65 gene(s)	inside rSNPs	diseases
8	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
9	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7937146	EEF1G///LOC729998	N/A	lymphoblastoid	RTeQTL
rs7937146	EML3	cis	Esophagus Mucosa	GTEx
rs7937146	MTA2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62322400-62340000	Strong transcription	Fetal Brain Female	brain
2	chr11:62324800-62333600	Weak transcription	Small Intestine	intestine
3	chr11:62324800-62338800	Strong transcription	Brain Germinal Matrix	brain
4	chr11:62324800-62339600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:62325000-62338600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:62325000-62338800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:62325200-62339600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:62326400-62339200	Strong transcription	Fetal Thymus	thymus
9	chr11:62326800-62337400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:62327600-62333200	Weak transcription	Pancreas	Pancrea
11	chr11:62328400-62333200	Weak transcription	Gastric	stomach
12	chr11:62328400-62338800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:62328600-62332800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:62328600-62334800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr11:62328600-62337800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr11:62328600-62338800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:62328600-62338800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:62328600-62339200	Strong transcription	Brain Hippocampus Middle	brain
19	chr11:62328600-62339400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:62328600-62339600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:62328600-62339800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:62328600-62340200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:62328800-62332600	Weak transcription	Stomach Mucosa	stomach
24	chr11:62328800-62332800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr11:62328800-62333000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:62328800-62334800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:62328800-62338600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:62328800-62339000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr11:62328800-62339800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr11:62329000-62333400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:62329000-62334800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr11:62329000-62337200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:62329000-62338800	Strong transcription	Fetal Muscle Leg	muscle
34	chr11:62329000-62339800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr11:62329200-62337000	Strong transcription	Adipose Nuclei	Adipose
36	chr11:62329200-62339400	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr11:62329400-62333200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:62329600-62332800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:62329600-62335400	Strong transcription	Brain Anterior Caudate	brain
40	chr11:62329600-62335400	Strong transcription	HSMM	muscle
41	chr11:62329600-62336600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:62329600-62339400	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:62329600-62339800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr11:62329800-62332600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:62329800-62334600	Strong transcription	HUVEC	blood vessel
46	chr11:62329800-62336400	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr11:62329800-62338000	Strong transcription	Fetal Stomach	stomach
48	chr11:62329800-62339000	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:62329800-62339400	Strong transcription	Lung	lung
50	chr11:62330000-62332600	Strong transcription	Fetal Intestine Small	intestine

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