Variant report

Variant	rs1567781
Chromosome Location	chr3:113294153-113294154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:113286843..113290980-chr3:113291829..113295911,3	MCF-7	breast:
2	chr3:113288086..113290145-chr3:113293668..113296433,2	K562	blood:
3	chr3:113251742..113258014-chr3:113293792..113298380,10	MCF-7	breast:
4	chr3:113282001..113285140-chr3:113291116..113294259,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072858	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11929640	0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12631929	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1567779	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048624	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2271492	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2271493	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2271495	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2292510	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2292511	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28446408	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28530478	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28564696	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34842926	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3773691	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3821682	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3821683	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3896909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3932276	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41271363	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4560271	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4560272	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4682493	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4682494	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4682496	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55941419	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56721892	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62265514	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62265515	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62265518	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62265519	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs62265520	0.96[ASN][1000 genomes]
rs62265521	0.96[ASN][1000 genomes]
rs6787428	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72950888	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9816095	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9823358	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9844542	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9854140	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9863703	0.86[AMR][1000 genomes]
rs9868243	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9874993	0.94[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9879239	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9985452	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv877349	chr3:113208224-113323787	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv877350	chr3:113208224-113332235	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113276800-113294200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:113279200-113300000	Weak transcription	Thymus	Thymus
3	chr3:113280200-113299200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:113280200-113321600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:113280400-113304000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:113280600-113302400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr3:113280600-113314800	Weak transcription	Spleen	Spleen
8	chr3:113281400-113302200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr3:113281600-113296400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:113281800-113296200	Strong transcription	Primary T cells from cord blood	blood
11	chr3:113283200-113296200	Strong transcription	GM12878-XiMat	blood
12	chr3:113285200-113329800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:113285200-113343400	Weak transcription	Small Intestine	intestine
14	chr3:113285400-113294200	Weak transcription	Esophagus	oesophagus
15	chr3:113286000-113316800	Weak transcription	Brain Angular Gyrus	brain
16	chr3:113287200-113301400	Weak transcription	Fetal Thymus	thymus
17	chr3:113287800-113298600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:113287800-113299200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:113288000-113300000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:113288000-113302200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr3:113289600-113294200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr3:113289800-113299400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr3:113290000-113296400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr3:113290000-113296400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:113291800-113296200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr3:113292000-113294600	Enhancers	Fetal Intestine Large	intestine
27	chr3:113292200-113297800	Weak transcription	Primary B cells from cord blood	blood
28	chr3:113292400-113294400	Enhancers	Hela-S3	cervix
29	chr3:113292400-113295400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:113292600-113294400	Enhancers	Fetal Intestine Small	intestine
31	chr3:113292800-113294400	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr3:113292800-113294600	Enhancers	Fetal Kidney	kidney
33	chr3:113292800-113295000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:113293000-113295000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr3:113293400-113294400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:113293400-113294400	Enhancers	Duodenum Mucosa	Duodenum
37	chr3:113293400-113294400	Enhancers	A549	lung
38	chr3:113293400-113294600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:113293400-113295000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr3:113293400-113296000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:113293400-113296800	Enhancers	HepG2	liver
42	chr3:113293600-113295000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:113293800-113294400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr3:113293800-113294400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr3:113293800-113294400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr3:113293800-113294600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr3:113293800-113295000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:113293800-113299600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr3:113294000-113294600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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