Variant report

Variant	rs7124057
Chromosome Location	chr11:62334096-62334097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62326922..62329969-chr11:62332380..62335184,3	MCF-7	breast:
2	chr11:62323623..62326054-chr11:62332710..62334828,2	MCF-7	breast:
3	chr11:62326979..62329934-chr11:62331462..62336636,5	K562	blood:
4	chr11:62328250..62330762-chr11:62331688..62334513,2	K562	blood:
5	chr11:62330159..62332860-chr11:62333540..62336351,2	K562	blood:
6	chr11:62319256..62325692-chr11:62326835..62334390,9	K562	blood:
7	chr11:62328251..62330018-chr11:62332722..62335121,2	MCF-7	breast:
8	chr11:62330055..62332907-chr11:62333476..62335055,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124942	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1061093	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231137	0.97[ASN][1000 genomes]
rs11231138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11231141	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231144	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231145	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11231151	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11231152	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11231154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11231155	0.81[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11231156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11231161	0.96[CEU][hapmap];0.84[GIH][hapmap];0.92[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11231176	1.00[JPT][hapmap]
rs11553576	0.96[CEU][hapmap];0.81[GIH][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12049914	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12223627	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12225213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12226821	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12808829	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17773169	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1801144	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2428548	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs2428549	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs2428551	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2509961	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs2509967	0.85[EUR][1000 genomes]
rs2509982	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs2512562	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs2512563	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs2516633	0.88[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs2516634	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2849030	0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs2849031	0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs34065644	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34894392	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35156678	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap]
rs35587183	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35880596	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58720921	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60098285	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61296092	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71490390	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71490392	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71490394	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72927213	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7928833	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930896	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7937146	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7942154	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7942991	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7943191	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	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:12)

SNP	Gene	Cis/trans	Tissue	Source
rs7124057	CFL1	cis	parietal	SCAN
rs7124057	SLC22A25	cis	parietal	SCAN
rs7124057	EEF1G///LOC729998	N/A	lymphoblastoid	RTeQTL
rs7124057	C11orf48	cis	cerebellum	SCAN
rs7124057	EML3	cis	cerebellum	SCAN
rs7124057	MTA2	cis	Esophagus Mucosa	GTEx
rs7124057	EEF1G	cis	multi-tissue	Pritchard
rs7124057	EML3	cis	Esophagus Mucosa	GTEx
rs7124057	TUT1	cis	parietal	SCAN
rs7124057	ROM1	cis	Thyroid	GTEx
rs7124057	EML3	cis	Whole Blood	GTEx
rs7124057	SCYL1	cis	parietal	SCAN

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	chr11:62324800-62338800	Strong transcription	Brain Germinal Matrix	brain
3	chr11:62324800-62339600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:62325000-62338600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:62325000-62338800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:62325200-62339600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:62326400-62339200	Strong transcription	Fetal Thymus	thymus
8	chr11:62326800-62337400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:62328400-62338800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:62328600-62334800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr11:62328600-62337800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr11:62328600-62338800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:62328600-62338800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:62328600-62339200	Strong transcription	Brain Hippocampus Middle	brain
15	chr11:62328600-62339400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:62328600-62339600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:62328600-62339800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:62328600-62340200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:62328800-62334800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:62328800-62338600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:62328800-62339000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr11:62328800-62339800	Strong transcription	Stomach Smooth Muscle	stomach
23	chr11:62329000-62334800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:62329000-62337200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:62329000-62338800	Strong transcription	Fetal Muscle Leg	muscle
26	chr11:62329000-62339800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr11:62329200-62337000	Strong transcription	Adipose Nuclei	Adipose
28	chr11:62329200-62339400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr11:62329600-62335400	Strong transcription	Brain Anterior Caudate	brain
30	chr11:62329600-62335400	Strong transcription	HSMM	muscle
31	chr11:62329600-62336600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:62329600-62339400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:62329600-62339800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr11:62329800-62334600	Strong transcription	HUVEC	blood vessel
35	chr11:62329800-62336400	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:62329800-62338000	Strong transcription	Fetal Stomach	stomach
37	chr11:62329800-62339000	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:62329800-62339400	Strong transcription	Lung	lung
39	chr11:62330000-62335200	Strong transcription	Brain Substantia Nigra	brain
40	chr11:62330000-62338600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:62330000-62339200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:62330000-62339200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:62330000-62339600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:62330200-62334800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:62330200-62338800	Strong transcription	Spleen	Spleen
46	chr11:62330200-62339600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:62330400-62334600	Strong transcription	Brain Angular Gyrus	brain
48	chr11:62330400-62338000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:62330400-62338600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:62330400-62339000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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