Variant report

Variant	rs12284670
Chromosome Location	chr11:73544202-73544203
allele	A/C
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	FOXA1	chr11:73544144-73544368	T-47D	breast:	n/a	n/a
2	FOS	chr11:73544124-73544398	MCF10A-Er-Src	breast:	n/a	n/a
3	FOXA2	chr11:73544073-73544483	A549	lung:	n/a	n/a

Variant related genes	Relation type
RN7SKP243	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1122373	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11235909	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11235921	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11235924	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235940	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs11235941	0.93[ASN][1000 genomes]
rs11235944	0.93[ASN][1000 genomes]
rs11235948	1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11235956	0.89[ASN][1000 genomes]
rs11827951	0.81[LWK][hapmap];0.82[YRI][hapmap]
rs11828006	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12269892	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12280222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12284235	1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[ASN][1000 genomes]
rs12287418	0.88[ASN][1000 genomes]
rs12291665	0.89[ASN][1000 genomes]
rs12294934	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12295206	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12420040	0.90[ASN][1000 genomes]
rs12575532	1.00[CEU][hapmap]
rs12577447	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1670539	1.00[CHB][hapmap]
rs17132305	1.00[CEU][hapmap];0.86[CHD][hapmap]
rs17132368	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17132408	0.82[YRI][hapmap]
rs17132421	0.81[LWK][hapmap];0.82[YRI][hapmap]
rs17132438	0.82[YRI][hapmap]
rs17132488	0.82[YRI][hapmap]
rs17132495	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs2010583	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2067913	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs3741138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3741139	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs56006060	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56380005	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58695771	1.00[ASN][1000 genomes]
rs59716840	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60782792	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60793745	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs637028	0.83[CHD][hapmap]
rs7111424	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7116620	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119602	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs73549968	0.92[ASN][1000 genomes]
rs935985	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs935988	1.00[CHB][hapmap];0.89[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers 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 target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv11395	chr11:73542220-73544433	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73549600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
3	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
4	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
5	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
6	chr11:73500600-73549200	Weak transcription	Osteobl	bone
7	chr11:73500600-73553800	Weak transcription	Fetal Lung	lung
8	chr11:73500800-73558800	Weak transcription	NHEK	skin
9	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
10	chr11:73508800-73565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
12	chr11:73508800-73575400	Weak transcription	Gastric	stomach
13	chr11:73509000-73549400	Weak transcription	Brain Substantia Nigra	brain
14	chr11:73509000-73549600	Weak transcription	Brain Angular Gyrus	brain
15	chr11:73509000-73553200	Weak transcription	Lung	lung
16	chr11:73516000-73553200	Weak transcription	HepG2	liver
17	chr11:73517000-73562800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:73517000-73565200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:73517600-73549400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
21	chr11:73522400-73549400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:73522400-73549400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:73525600-73549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:73529800-73549200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:73530000-73549600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:73530400-73549400	Weak transcription	HSMM	muscle
27	chr11:73530600-73549200	Weak transcription	NH-A	brain
28	chr11:73530600-73549400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:73530600-73549600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr11:73530800-73549200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:73531000-73549200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:73531000-73549600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:73531800-73555600	Weak transcription	Fetal Kidney	kidney
34	chr11:73532000-73549400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:73532600-73546200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:73532800-73548400	Weak transcription	Fetal Heart	heart
37	chr11:73533000-73580400	Weak transcription	Stomach Mucosa	stomach
38	chr11:73534400-73549200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:73534600-73549400	Weak transcription	A549	lung
40	chr11:73535200-73544800	Strong transcription	Dnd41	blood
41	chr11:73535200-73549600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:73535600-73545200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:73535600-73549600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:73536200-73547600	Strong transcription	Fetal Stomach	stomach
45	chr11:73536400-73544400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr11:73536400-73545400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:73536600-73544600	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:73536600-73544600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:73536600-73545000	Strong transcription	Fetal Muscle Leg	muscle
50	chr11:73537000-73544400	Strong transcription	Liver	Liver

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