Variant report

Variant	rs34014874
Chromosome Location	chr11:57088401-57088402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr11:57088363-57091353	IMR90	lung:	n/a	chr11:57090749-57090760 chr11:57090120-57090129 chr11:57089544-57089554
2	ZNF143	chr11:57088167-57088476	K562	blood:	n/a	chr11:57088260-57088278
3	POLR2A	chr11:57088342-57088601	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr11:57088311-57088429	MCF10A-Er-Src	breast:	n/a	n/a
5	RCOR1	chr11:57088194-57088764	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254662	TF binding region

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1124846	1.00[AFR][1000 genomes]
rs12417609	1.00[AFR][1000 genomes]
rs12417875	1.00[AFR][1000 genomes]
rs12576471	1.00[AFR][1000 genomes]
rs12785770	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12786396	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12787728	0.85[AMR][1000 genomes]
rs12788046	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12789789	1.00[AFR][1000 genomes]
rs12792413	1.00[AFR][1000 genomes]
rs12797375	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12798121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12799582	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12800182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12800196	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12801000	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12802096	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12803405	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12804022	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12806656	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12806978	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12807593	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12808193	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12808495	1.00[AFR][1000 genomes]
rs12808784	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12808788	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17145552	1.00[AFR][1000 genomes]
rs17145556	1.00[AFR][1000 genomes]
rs17151664	1.00[AFR][1000 genomes]
rs17151671	1.00[AFR][1000 genomes]
rs17151841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17564188	1.00[AFR][1000 genomes]
rs17651297	1.00[AFR][1000 genomes]
rs17651573	1.00[AFR][1000 genomes]
rs1806823	1.00[AFR][1000 genomes]
rs1941034	1.00[AFR][1000 genomes]
rs1941054	1.00[AFR][1000 genomes]
rs1943485	1.00[AFR][1000 genomes]
rs2077188	1.00[AFR][1000 genomes]
rs2156457	1.00[AFR][1000 genomes]
rs2156458	1.00[AFR][1000 genomes]
rs2156460	1.00[AFR][1000 genomes]
rs2212608	1.00[AFR][1000 genomes]
rs2230648	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511025	0.81[EUR][1000 genomes]
rs2846046	0.81[EUR][1000 genomes]
rs2851723	0.81[EUR][1000 genomes]
rs34069781	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34076116	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34085089	0.85[AMR][1000 genomes]
rs34177110	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34458685	1.00[AFR][1000 genomes]
rs34498883	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34505638	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34544917	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34555300	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34572680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34704777	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34742309	1.00[AFR][1000 genomes]
rs34754262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34761603	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34769912	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34850337	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34905018	1.00[AFR][1000 genomes]
rs34985061	1.00[AFR][1000 genomes]
rs35272228	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35284031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35366909	1.00[AFR][1000 genomes]
rs35388927	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35407832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35536636	1.00[AFR][1000 genomes]
rs35566323	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35707583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35721601	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35818468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35845551	1.00[AFR][1000 genomes]
rs35943801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35950335	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35980006	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35991636	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs36090449	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484414	1.00[AFR][1000 genomes]
rs71484419	1.00[AFR][1000 genomes]
rs71484422	1.00[AFR][1000 genomes]
rs71484424	1.00[AFR][1000 genomes]
rs71484425	1.00[AFR][1000 genomes]
rs71484428	1.00[AFR][1000 genomes]
rs71484429	1.00[AFR][1000 genomes]
rs71484430	1.00[AFR][1000 genomes]
rs71484431	1.00[AFR][1000 genomes]
rs71484432	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71484433	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484434	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484435	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484436	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484437	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71484440	0.85[AMR][1000 genomes]
rs71484441	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs71484443	0.94[EUR][1000 genomes]
rs71484444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717117	1.00[AFR][1000 genomes]
rs746885	1.00[AFR][1000 genomes]
rs948843	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57079200-57091400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:57079400-57089600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:57079400-57091400	Weak transcription	Primary B cells from cord blood	blood
4	chr11:57079600-57089400	Weak transcription	GM12878-XiMat	blood
5	chr11:57079600-57090800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:57079800-57089000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:57079800-57089400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:57079800-57090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:57080200-57088800	Strong transcription	Dnd41	blood
10	chr11:57082800-57088600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:57082800-57089200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:57082800-57089200	Genic enhancers	Placenta	Placenta
13	chr11:57083800-57089200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr11:57083800-57090800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr11:57083800-57090800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:57083800-57091400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:57084000-57088600	Weak transcription	Fetal Heart	heart
18	chr11:57084000-57088800	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr11:57084000-57089200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:57084200-57088800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:57084200-57089000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:57084400-57088800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:57084600-57088800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:57084600-57089200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:57084800-57089000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:57084800-57090600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:57085000-57091000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr11:57085200-57089000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:57085400-57089000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:57085400-57090600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:57085400-57091200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr11:57085600-57088800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:57085600-57088800	Genic enhancers	A549	lung
34	chr11:57085600-57089000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:57086000-57088600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:57086000-57091000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr11:57086200-57088600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:57086200-57088600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:57086200-57088600	Strong transcription	Fetal Intestine Large	intestine
40	chr11:57086200-57088600	Weak transcription	Fetal Thymus	thymus
41	chr11:57086200-57088600	Weak transcription	NH-A	brain
42	chr11:57086200-57088800	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr11:57086200-57089000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr11:57086200-57089000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:57086200-57089200	Weak transcription	Brain Substantia Nigra	brain
46	chr11:57086200-57089200	Weak transcription	Psoas Muscle	Psoas
47	chr11:57086200-57089200	Weak transcription	HUVEC	blood vessel
48	chr11:57086200-57091200	Weak transcription	Primary T cells from cord blood	blood
49	chr11:57086400-57088600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:57086400-57088600	Strong transcription	HSMMtube	muscle

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