Variant report

Variant	rs584698
Chromosome Location	chr11:64799048-64799049
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64759655..64763074-chr11:64796626..64799324,3	K562	blood:
2	chr11:64781097..64784077-chr11:64798309..64801053,4	MCF-7	breast:
3	chr11:64798286..64800870-chr11:64805869..64808336,2	K562	blood:
4	chr11:64798559..64800462-chr11:64801916..64804086,2	K562	blood:
5	chr11:64794902..64797457-chr11:64797903..64800553,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273003	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000110025	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10088	0.82[CEU][hapmap];0.93[GIH][hapmap]
rs10160811	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10792455	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1195975	0.93[GIH][hapmap]
rs1195978	0.93[GIH][hapmap]
rs1196047	0.93[GIH][hapmap]
rs1196051	0.82[CEU][hapmap]
rs1209621	0.93[GIH][hapmap]
rs1211975	0.93[GIH][hapmap]
rs1300836	0.93[GIH][hapmap]
rs17146589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2670910	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34589041	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3896078	0.93[GIH][hapmap]
rs473587	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs481446	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs484147	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs494837	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs495820	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs495935	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs497023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs500464	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs508375	0.93[GIH][hapmap]
rs527039	0.93[GIH][hapmap]
rs533164	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533301	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542175	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs550771	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs561524	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs608772	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs613352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs664118	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs689361	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939766	0.82[CEU][hapmap]
rs907629	0.90[GIH][hapmap]

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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS 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	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64795200-64799400	Weak transcription	Esophagus	oesophagus
2	chr11:64795200-64799800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:64795200-64808000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:64795400-64799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:64795400-64808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:64795600-64808000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:64795800-64802400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:64795800-64805000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:64795800-64807800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:64795800-64807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:64795800-64808000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:64795800-64808000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:64796000-64799400	Weak transcription	Thymus	Thymus
14	chr11:64796000-64799800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:64796000-64800600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:64796000-64801400	Weak transcription	Aorta	Aorta
17	chr11:64796000-64803000	Weak transcription	HSMMtube	muscle
18	chr11:64796000-64805000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:64796000-64805000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:64796000-64807400	Weak transcription	Stomach Mucosa	stomach
21	chr11:64796000-64807600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr11:64796000-64807800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:64796000-64807800	Weak transcription	Fetal Kidney	kidney
24	chr11:64796000-64808000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:64796200-64799200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:64796200-64799200	Weak transcription	Fetal Lung	lung
27	chr11:64796200-64799400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:64796200-64799400	Weak transcription	Primary T cells from cord blood	blood
29	chr11:64796200-64799400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:64796200-64799400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:64796200-64799400	Weak transcription	Fetal Brain Female	brain
32	chr11:64796200-64799400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr11:64796200-64799600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:64796200-64799600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:64796200-64799600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:64796200-64799600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:64796200-64799600	Weak transcription	Brain Angular Gyrus	brain
38	chr11:64796200-64800000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:64796200-64801600	Weak transcription	Brain Substantia Nigra	brain
40	chr11:64796200-64802000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr11:64796200-64803000	Weak transcription	NHLF	lung
42	chr11:64796200-64804200	Weak transcription	Fetal Heart	heart
43	chr11:64796200-64804400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:64796200-64805000	Weak transcription	NHDF-Ad	bronchial
45	chr11:64796200-64805600	Weak transcription	NH-A	brain
46	chr11:64796200-64807200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:64796200-64807200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr11:64796200-64807200	Weak transcription	K562	blood
49	chr11:64796200-64807800	Weak transcription	Small Intestine	intestine
50	chr11:64796200-64807800	Weak transcription	A549	lung

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