Variant report

Variant	rs12798121
Chromosome Location	chr11:57104264-57104265
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:57102820-57104268	Raji	blood:	n/a	n/a
2	MAZ	chr11:57102291-57104264	IMR90	lung:	n/a	n/a
3	MYC	chr11:57102443-57104452	A549	lung:	n/a	n/a
4	HCFC1	chr11:57102567-57104397	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:57103225-57104289	GM12891	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57101540..57104523-chr11:57435455..57437198,2	K562	blood:
2	chr11:57101959..57104495-chr11:57114498..57116967,2	K562	blood:
3	chr11:57102611..57104475-chr11:57280670..57283217,2	K562	blood:
4	chr11:57101355..57105024-chr11:57147650..57149782,3	K562	blood:
5	chr11:57104191..57107029-chr11:57508169..57510390,2	MCF-7	breast:

No data

Variant related genes	Relation type
P2RX3	TF binding region
SSRP1	TF binding region
ENSG00000156575	Chromatin interaction
ENSG00000149150	Chromatin interaction
ENSG00000254732	Chromatin interaction
ENSG00000109991	Chromatin interaction
ENSG00000211450	Chromatin interaction
ENSG00000156599	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1124846	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	0.87[GIH][hapmap];1.00[MEX][hapmap];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]
rs12797375	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12799582	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12800182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];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[MEX][hapmap];1.00[AFR][1000 genomes]
rs17151671	1.00[AFR][1000 genomes]
rs17151841	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17651297	1.00[AFR][1000 genomes]
rs17651573	1.00[AFR][1000 genomes]
rs1939488	0.87[GIH][hapmap]
rs1941034	1.00[AFR][1000 genomes]
rs1941054	1.00[AFR][1000 genomes]
rs1943485	1.00[AFR][1000 genomes]
rs1943488	1.00[MEX][hapmap]
rs2077188	1.00[AFR][1000 genomes]
rs2156457	1.00[AFR][1000 genomes]
rs2156458	1.00[AFR][1000 genomes]
rs2156460	1.00[MEX][hapmap];1.00[AFR][1000 genomes]
rs2212608	1.00[AFR][1000 genomes]
rs2230648	1.00[CEU][hapmap];1.00[CHB][hapmap];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]
rs34014874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];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]
rs6591419	0.87[GIH][hapmap]
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]
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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57103600-57104400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
2	chr11:57103600-57104400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr11:57103600-57104400	Flanking Active TSS	Dnd41	blood
4	chr11:57103800-57104400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:57103800-57105400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:57103800-57110000	Weak transcription	Fetal Brain Female	brain
7	chr11:57104000-57104400	Enhancers	Primary B cells from peripheral blood	blood
8	chr11:57104000-57104400	Enhancers	Primary hematopoietic stem cells	blood
9	chr11:57104000-57104400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:57104000-57104400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:57104000-57104400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:57104000-57104400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr11:57104000-57104400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:57104000-57104400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:57104000-57104400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:57104000-57104400	Enhancers	Brain Angular Gyrus	brain
17	chr11:57104000-57104400	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr11:57104000-57104400	Enhancers	Fetal Lung	lung
19	chr11:57104000-57104400	Enhancers	Fetal Thymus	thymus
20	chr11:57104000-57104400	Enhancers	HMEC	breast
21	chr11:57104000-57104400	Enhancers	NHLF	lung
22	chr11:57104000-57104600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr11:57104000-57104600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:57104000-57105400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:57104000-57105400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:57104000-57105400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:57104000-57105400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:57104000-57105800	Weak transcription	Left Ventricle	heart
29	chr11:57104000-57106000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:57104000-57106400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:57104000-57106800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:57104000-57106800	Weak transcription	Fetal Brain Male	brain
33	chr11:57104000-57107200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:57104000-57113000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:57104000-57117200	Weak transcription	Right Atrium	heart
36	chr11:57104200-57104400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:57104200-57104400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:57104200-57104400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:57104200-57104400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr11:57104200-57104400	Enhancers	Primary T cells from cord blood	blood
41	chr11:57104200-57104400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr11:57104200-57104400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:57104200-57104400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr11:57104200-57104400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:57104200-57104400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr11:57104200-57104400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr11:57104200-57104400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr11:57104200-57104400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:57104200-57104400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:57104200-57104400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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