Variant report

Variant	rs11070829
Chromosome Location	chr15:51300305-51300306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:51298494..51301208-chr15:51302295..51305050,2	MCF-7	breast:

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10744956	0.90[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11070824	0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs11070835	0.90[CHB][hapmap]
rs1147128	0.87[ASN][1000 genomes]
rs1147129	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs1147130	0.87[ASN][1000 genomes]
rs1147131	0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.86[ASN][1000 genomes]
rs1147133	0.87[ASN][1000 genomes]
rs1147135	0.87[ASN][1000 genomes]
rs1147136	0.87[ASN][1000 genomes]
rs1147139	0.85[ASN][1000 genomes]
rs11632971	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11635015	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11635102	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11857810	0.81[CHB][hapmap]
rs12438343	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.88[ASN][1000 genomes]
rs12440387	0.81[CHB][hapmap]
rs12441714	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12595034	0.88[ASN][1000 genomes]
rs12708425	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1276854	0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12898208	0.88[ASN][1000 genomes]
rs12898530	0.88[ASN][1000 genomes]
rs12904125	0.85[ASN][1000 genomes]
rs12904382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12905611	0.85[ASN][1000 genomes]
rs12906866	0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs12908516	0.80[ASN][1000 genomes]
rs12909519	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12912295	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12916407	0.86[ASN][1000 genomes]
rs1371058	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1472946	0.90[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs1509423	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1550336	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1550340	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17703090	0.91[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs2118785	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2127366	0.87[ASN][1000 genomes]
rs2127367	0.88[ASN][1000 genomes]
rs2127368	0.86[CHB][hapmap];0.96[JPT][hapmap];0.86[YRI][hapmap];0.88[ASN][1000 genomes]
rs2170011	0.88[ASN][1000 genomes]
rs2249535	0.85[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2306331	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs2306332	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2414078	0.87[ASN][1000 genomes]
rs2414079	0.87[ASN][1000 genomes]
rs2414080	0.83[ASN][1000 genomes]
rs2414081	0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.88[ASN][1000 genomes]
rs2614776	0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs2614779	0.86[CHB][hapmap];0.96[JPT][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs2614780	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs2614781	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2614782	0.87[ASN][1000 genomes]
rs2614784	0.87[ASN][1000 genomes]
rs2614789	0.87[ASN][1000 genomes]
rs2614790	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2614791	0.90[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs2614792	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs2614794	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2619686	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2619687	0.87[ASN][1000 genomes]
rs2619688	0.87[ASN][1000 genomes]
rs2619691	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs2619693	0.85[ASN][1000 genomes]
rs2619694	0.85[ASN][1000 genomes]
rs2663533	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs2663535	0.86[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.87[ASN][1000 genomes]
rs2663537	0.86[ASN][1000 genomes]
rs2663538	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.86[ASN][1000 genomes]
rs2663541	0.87[ASN][1000 genomes]
rs2663543	0.87[ASN][1000 genomes]
rs2663544	0.87[ASN][1000 genomes]
rs2663545	0.87[ASN][1000 genomes]
rs2663546	0.87[ASN][1000 genomes]
rs2663548	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2663553	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.87[ASN][1000 genomes]
rs2663554	0.85[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.87[ASN][1000 genomes]
rs2663555	0.87[ASN][1000 genomes]
rs2663556	0.86[CHB][hapmap];0.96[JPT][hapmap];0.80[ASN][1000 genomes]
rs3743045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3784301	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs3784302	0.87[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs3784303	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.86[ASN][1000 genomes]
rs4438254	0.88[ASN][1000 genomes]
rs4444282	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4534781	0.87[ASN][1000 genomes]
rs4775910	0.91[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs4775913	0.88[ASN][1000 genomes]
rs56115630	0.86[ASN][1000 genomes]
rs6493469	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs6493471	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493472	0.91[ASN][1000 genomes]
rs6493473	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493476	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67145268	0.84[ASN][1000 genomes]
rs67228714	0.87[ASN][1000 genomes]
rs714784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7162209	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7168385	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.88[ASN][1000 genomes]
rs7168846	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.88[ASN][1000 genomes]
rs7169888	0.88[ASN][1000 genomes]
rs7170311	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7170365	0.88[ASN][1000 genomes]
rs7170675	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.88[ASN][1000 genomes]
rs7171085	0.88[ASN][1000 genomes]
rs7177267	0.88[ASN][1000 genomes]
rs7180258	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.91[ASN][1000 genomes]
rs7181051	0.88[ASN][1000 genomes]
rs7181201	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7181997	0.87[ASN][1000 genomes]
rs7182957	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.92[ASN][1000 genomes]
rs7184026	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73408568	0.81[ASN][1000 genomes]
rs7494977	0.86[ASN][1000 genomes]
rs8024428	0.88[ASN][1000 genomes]
rs8025456	0.86[ASN][1000 genomes]
rs8026318	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8029155	0.85[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs8029369	0.86[CHB][hapmap];0.96[JPT][hapmap];0.89[YRI][hapmap];0.88[ASN][1000 genomes]
rs8030124	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8030214	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8031702	0.85[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs8033934	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8034576	0.82[ASN][1000 genomes]
rs8035358	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8041824	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv569403	chr15:51191421-51304373	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
5	nsv1038778	chr15:51196641-51356728	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv904214	chr15:51204364-51535192	Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv1049644	chr15:51265447-51560445	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	esv34532	chr15:51276128-51752856	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv428634	chr15:51299632-51446666	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51263000-51304800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:51263600-51301200	Weak transcription	HepG2	liver
3	chr15:51263600-51303000	Weak transcription	HUVEC	blood vessel
4	chr15:51263800-51300400	Weak transcription	Right Ventricle	heart
5	chr15:51265200-51302400	Weak transcription	Brain Hippocampus Middle	brain
6	chr15:51265200-51315600	Weak transcription	Gastric	stomach
7	chr15:51265400-51302400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr15:51267000-51302200	Weak transcription	Fetal Brain Female	brain
9	chr15:51270200-51302600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr15:51270200-51317600	Weak transcription	Psoas Muscle	Psoas
11	chr15:51273400-51302200	Weak transcription	Colonic Mucosa	Colon
12	chr15:51273400-51302400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr15:51273600-51307600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:51274200-51301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:51276400-51300600	Weak transcription	A549	lung
16	chr15:51282000-51304000	Weak transcription	Fetal Heart	heart
17	chr15:51282600-51301000	Weak transcription	Colon Smooth Muscle	Colon
18	chr15:51283400-51300400	Weak transcription	Fetal Intestine Small	intestine
19	chr15:51286200-51315600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:51286600-51323000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr15:51287400-51300600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr15:51289000-51302000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr15:51289000-51322200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:51290000-51300400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:51290800-51300400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:51294600-51303200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr15:51295000-51300400	Weak transcription	Fetal Muscle Leg	muscle
28	chr15:51295000-51300400	Weak transcription	Ovary	ovary
29	chr15:51295000-51301200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr15:51295000-51301600	Weak transcription	NH-A	brain
31	chr15:51295000-51303600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:51295000-51310200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:51295400-51302000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr15:51295400-51302000	Weak transcription	Fetal Intestine Large	intestine
35	chr15:51295400-51302400	Weak transcription	Dnd41	blood
36	chr15:51295400-51308000	Weak transcription	Brain Angular Gyrus	brain
37	chr15:51295600-51300600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr15:51295600-51302400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr15:51295800-51302000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr15:51295800-51322400	Weak transcription	Osteobl	bone
41	chr15:51296600-51301600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr15:51296600-51306800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr15:51296800-51300400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:51296800-51300400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr15:51296800-51300400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:51296800-51300400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:51296800-51300400	Weak transcription	Fetal Stomach	stomach
48	chr15:51296800-51300400	Weak transcription	Pancreas	Pancrea
49	chr15:51296800-51300400	Weak transcription	Thymus	Thymus
50	chr15:51296800-51300400	Weak transcription	HSMM	muscle

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