Variant report

Variant	rs502017
Chromosome Location	chr11:63447230-63447231
allele	G/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	MAFK	chr11:63447228-63447522	HepG2	liver:	n/a	chr11:63447422-63447438 chr11:63447385-63447400
2	MAFK	chr11:63447112-63447531	HepG2	liver:	n/a	chr11:63447422-63447438 chr11:63447385-63447400

No.	Distal block	Cell Line	Cell type
1	chr11:63437832..63440403-chr11:63444142..63447314,3	MCF-7	breast:
2	chr11:63442659..63445643-chr11:63445917..63448695,3	MCF-7	breast:
3	chr11:63437875..63444495-chr11:63445155..63450267,13	K562	blood:
4	chr11:63436138..63441406-chr11:63446930..63451361,18	MCF-7	breast:
5	chr11:63437372..63440690-chr11:63447067..63450757,11	K562	blood:

Variant related genes	Relation type
RTN3	TF binding region
ENSG00000184743	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1199383	1.00[AMR][1000 genomes]
rs1301131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158455	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs17158456	1.00[YRI][hapmap]
rs2510524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2957207	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs2957251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2957254	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2957255	1.00[AMR][1000 genomes]
rs2957256	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2959888	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35375575	1.00[AMR][1000 genomes]
rs480271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs489327	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs489580	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs496346	1.00[AFR][1000 genomes]
rs496354	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs499942	1.00[YRI][hapmap]
rs501095	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs502717	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs509932	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs512073	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs516068	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs516981	1.00[AMR][1000 genomes]
rs518304	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs518453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519374	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs520640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs528770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs533130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs538627	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs540034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs542124	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs554661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560610	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56380757	1.00[AMR][1000 genomes]
rs569657	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs573083	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57478357	1.00[AMR][1000 genomes]
rs57658167	1.00[AMR][1000 genomes]
rs59235496	1.00[AMR][1000 genomes]
rs622400	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs653841	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs694024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63439200-63448400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:63439200-63448400	Weak transcription	Aorta	Aorta
3	chr11:63439600-63448200	Weak transcription	Brain Angular Gyrus	brain
4	chr11:63439600-63448200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:63439600-63448400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:63439600-63448400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:63439600-63448400	Weak transcription	Liver	Liver
8	chr11:63439600-63448400	Weak transcription	Right Ventricle	heart
9	chr11:63439800-63448000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:63439800-63448000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:63439800-63448200	Weak transcription	Fetal Intestine Large	intestine
12	chr11:63441000-63448200	Weak transcription	A549	lung
13	chr11:63441200-63448000	Weak transcription	K562	blood
14	chr11:63441400-63447600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:63441400-63447800	Weak transcription	HMEC	breast
16	chr11:63441400-63448200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:63441400-63448200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:63441600-63448200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:63441600-63448200	Weak transcription	NH-A	brain
20	chr11:63445800-63448000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:63446400-63448400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:63446600-63448200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr11:63446800-63447600	Enhancers	HSMM	muscle
24	chr11:63446800-63448200	Enhancers	Hela-S3	cervix
25	chr11:63447000-63447600	Enhancers	HSMMtube	muscle
26	chr11:63447000-63448200	Enhancers	Fetal Heart	heart
27	chr11:63447200-63447400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:63447200-63447400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:63447200-63447400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr11:63447200-63447400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr11:63447200-63447400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:63447200-63447400	Enhancers	Brain Anterior Caudate	brain
33	chr11:63447200-63448000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:63447200-63448000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:63447200-63448000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:63447200-63448000	Weak transcription	HUVEC	blood vessel
37	chr11:63447200-63448200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:63447200-63448200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:63447200-63448200	Enhancers	Brain Hippocampus Middle	brain
40	chr11:63447200-63448200	Enhancers	Fetal Brain Male	brain
41	chr11:63447200-63448200	Enhancers	NHLF	lung

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