Variant report

Variant	rs650506
Chromosome Location	chr11:64697386-64697387
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64696369..64699688-chr11:64704058..64706503,4	K562	blood:
2	chr11:64689648..64693154-chr11:64695585..64698059,3	K562	blood:
3	chr11:64693891..64698050-chr11:64753803..64757942,3	K562	blood:
4	chr11:64694012..64696032-chr11:64696545..64698683,2	K562	blood:
5	chr11:64669696..64671329-chr11:64696222..64699076,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000068971	Chromatin interaction
ENSG00000168062	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10792454	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11231912	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1152642	0.88[ASN][1000 genomes]
rs1152645	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1196617	0.83[ASN][1000 genomes]
rs1196618	0.83[ASN][1000 genomes]
rs1196903	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs183578	0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs183579	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs240568	0.84[ASN][1000 genomes]
rs240569	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs240570	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2670909	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs495330	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs528941	0.91[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs532508	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs551292	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs57751380	0.85[AMR][1000 genomes]
rs582580	0.82[ASW][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs586616	0.91[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs587835	0.91[ASN][1000 genomes]
rs589351	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs596321	0.91[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs602404	0.91[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs610208	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs615709	0.82[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs616341	0.89[ASN][1000 genomes]
rs61893590	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs654772	0.91[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs659122	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs660165	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs663767	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs664226	0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs670524	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs674981	0.91[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs688368	0.82[ASN][1000 genomes]
rs694907	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak 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	1071 gene(s)	inside rSNPs	diseases
4	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
5	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS 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	1028 gene(s)	inside rSNPs	diseases
6	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	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
9	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64692800-64697600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:64692800-64702200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:64693000-64697800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:64693000-64699200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:64693000-64700200	Weak transcription	A549	lung
6	chr11:64693000-64700400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:64693000-64700600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:64693000-64702000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:64693000-64702600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:64693000-64703000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:64693000-64703000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:64693000-64703000	Weak transcription	Fetal Kidney	kidney
13	chr11:64693000-64703000	Weak transcription	K562	blood
14	chr11:64693000-64703600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr11:64693200-64697400	Weak transcription	HUVEC	blood vessel
16	chr11:64693200-64697800	Weak transcription	Fetal Thymus	thymus
17	chr11:64693200-64698200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:64693200-64701400	Weak transcription	Fetal Heart	heart
19	chr11:64693200-64702800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:64693200-64702800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:64693400-64697600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:64693400-64697600	Weak transcription	Ovary	ovary
23	chr11:64693600-64697400	Weak transcription	Small Intestine	intestine
24	chr11:64693600-64697600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr11:64693600-64697800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:64693600-64697800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:64693600-64698000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:64693600-64698600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:64693600-64701400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:64693600-64703000	Weak transcription	Stomach Mucosa	stomach
31	chr11:64693800-64697800	Weak transcription	Psoas Muscle	Psoas
32	chr11:64693800-64700800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:64693800-64700800	Weak transcription	HepG2	liver
34	chr11:64693800-64704400	Weak transcription	Right Atrium	heart
35	chr11:64694000-64697400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:64694000-64699200	Weak transcription	HSMM	muscle
37	chr11:64694000-64701000	Strong transcription	Fetal Intestine Small	intestine
38	chr11:64694000-64702200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:64694000-64702600	Strong transcription	Fetal Muscle Leg	muscle
40	chr11:64694000-64702800	Strong transcription	Fetal Brain Female	brain
41	chr11:64694000-64702800	Strong transcription	Fetal Stomach	stomach
42	chr11:64694000-64702800	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:64694000-64703000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:64694000-64703000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:64694200-64699800	Strong transcription	Brain Hippocampus Middle	brain
46	chr11:64694200-64700200	Strong transcription	Brain Anterior Caudate	brain
47	chr11:64694200-64700800	Strong transcription	Fetal Intestine Large	intestine
48	chr11:64694200-64701600	Strong transcription	Colon Smooth Muscle	Colon
49	chr11:64694200-64701800	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr11:64694200-64702000	Strong transcription	Aorta	Aorta

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