Variant report

Variant	rs11975317
Chromosome Location	chr7:86966513-86966514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:86960738..86962242-chr7:86964878..86967061,2	MCF-7	breast:
2	chr7:86945673..86950114-chr7:86965968..86970483,8	MCF-7	breast:
3	chr7:86965004..86967004-chr7:87042803..87044523,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10499902	1.00[CEU][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11971666	1.00[CEU][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11973839	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11973893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11975323	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11975766	1.00[CEU][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11976069	1.00[CEU][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11976398	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11977095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11977186	1.00[CEU][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11977237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11983873	1.00[CEU][hapmap];0.86[YRI][hapmap]
rs11983904	1.00[CEU][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11984117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35186400	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36101759	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57585161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58807320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59567057	0.92[EUR][1000 genomes]
rs6943391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6943685	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6943711	1.00[CEU][hapmap];0.84[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6943724	1.00[CEU][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6944261	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6944268	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs6974007	1.00[CEU][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1029486	chr7:86856387-87121976	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv539004	chr7:86856387-87121976	Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1814401	chr7:86857553-87034167	Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	esv1826474	chr7:86857553-87034167	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv428177	chr7:86857553-87034167	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	esv1828294	chr7:86857553-87147397	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv1024376	chr7:86905796-87129346	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv1026153	chr7:86905796-87258822	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv1022111	chr7:86918603-86966719	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv888678	chr7:86932085-87101407	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11975317	TP53AP1	cis	multi-tissue	Pritchard

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86951000-86972600	Weak transcription	Fetal Kidney	kidney
2	chr7:86958200-86970800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:86958400-86970400	Weak transcription	Pancreas	Pancrea
4	chr7:86958400-86972600	Weak transcription	Osteobl	bone
5	chr7:86958600-86971000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:86958800-86971200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:86958800-86972600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr7:86959000-86970400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:86959000-86973200	Weak transcription	A549	lung
10	chr7:86959000-86973400	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:86959400-86968600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:86959400-86968600	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:86959400-86968800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:86959400-86968800	Weak transcription	Aorta	Aorta
15	chr7:86959400-86968800	Weak transcription	Left Ventricle	heart
16	chr7:86959400-86969800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:86959400-86970400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:86959400-86970600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:86959400-86972600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:86959400-86973800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:86959400-86973800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:86959400-86973800	Weak transcription	Thymus	Thymus
23	chr7:86959400-86974200	Weak transcription	Small Intestine	intestine
24	chr7:86959400-86974400	Weak transcription	Spleen	Spleen
25	chr7:86959600-86970000	Weak transcription	Brain Substantia Nigra	brain
26	chr7:86959600-86970000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:86959600-86970400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:86959600-86973000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr7:86959600-86973400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:86959600-86974200	Weak transcription	Colonic Mucosa	Colon
31	chr7:86959800-86968400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr7:86959800-86970000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:86959800-86970200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:86959800-86971200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:86959800-86974200	Weak transcription	Esophagus	oesophagus
36	chr7:86959800-86974200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:86960000-86968400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:86960000-86971800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:86960000-86972600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:86960000-86973600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:86960400-86968800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:86960400-86970200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr7:86960400-86971200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:86960600-86970000	Weak transcription	Fetal Stomach	stomach
45	chr7:86960600-86970400	Weak transcription	Fetal Thymus	thymus
46	chr7:86960600-86971000	Weak transcription	HMEC	breast
47	chr7:86960600-86973800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:86960600-86974200	Weak transcription	Placenta	Placenta
49	chr7:86960600-86974200	Weak transcription	Lung	lung
50	chr7:86961000-86968800	Weak transcription	Ovary	ovary

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