Variant report

Variant	rs17148473
Chromosome Location	chr11:85491274-85491275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85491140..85492854-chr11:85498576..85500721,2	MCF-7	breast:
2	chr11:85476838..85478489-chr11:85489449..85492312,2	MCF-7	breast:
3	chr11:85483031..85484829-chr11:85489354..85491386,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10501596	0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11822544	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11826413	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs11827081	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12099248	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12099426	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1445515	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148344	1.00[MEX][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs17148395	0.82[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148401	0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148417	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148419	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148431	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148438	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148453	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148488	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17148584	1.00[EUR][1000 genomes]
rs28450318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34050255	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35177514	1.00[EUR][1000 genomes]
rs3851177	0.81[MKK][hapmap];1.00[EUR][1000 genomes]
rs4088047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4088048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55739500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56386215	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57373902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58519079	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60068371	1.00[EUR][1000 genomes]
rs60389124	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60958929	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6592259	1.00[MEX][hapmap]
rs7111778	0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7115189	0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119154	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7124851	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs7129079	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73502585	1.00[EUR][1000 genomes]
rs73519658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73519686	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7925247	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7925465	0.99[AFR][1000 genomes]
rs7928873	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7938187	1.00[EUR][1000 genomes]
rs7946866	0.82[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7950767	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv832222	chr11:85405712-85603981	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv898050	chr11:85406915-85499290	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv555639	chr11:85436352-85495269	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1047147	chr11:85459235-85594800	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv541114	chr11:85459235-85594800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	esv2762927	chr11:85468051-85559618	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv1052737	chr11:85477084-85554914	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv541115	chr11:85477084-85554914	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv1049630	chr11:85486866-85535123	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85480200-85491800	Weak transcription	Gastric	stomach
2	chr11:85483200-85492800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:85485600-85492800	Weak transcription	Ovary	ovary
4	chr11:85486000-85491800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:85486200-85492400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr11:85486400-85491400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr11:85486400-85491800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:85486400-85491800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:85486400-85491800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:85486400-85492600	Weak transcription	Primary T cells from cord blood	blood
11	chr11:85486400-85496200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:85486600-85491400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:85486600-85491400	Weak transcription	Colonic Mucosa	Colon
14	chr11:85488000-85492200	Enhancers	Fetal Intestine Small	intestine
15	chr11:85488200-85493000	Enhancers	Fetal Intestine Large	intestine
16	chr11:85488600-85491400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:85488600-85494800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:85489200-85492800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:85489400-85491600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:85489400-85492600	Weak transcription	HMEC	breast
21	chr11:85490800-85491400	Enhancers	Brain Hippocampus Middle	brain
22	chr11:85490800-85491600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:85490800-85491600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:85490800-85491800	Enhancers	NHLF	lung
25	chr11:85490800-85492000	Enhancers	A549	lung
26	chr11:85490800-85492200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:85490800-85492200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:85490800-85492200	Enhancers	Small Intestine	intestine
29	chr11:85490800-85493000	Enhancers	Duodenum Mucosa	Duodenum
30	chr11:85490800-85493000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr11:85490800-85493000	Enhancers	NHDF-Ad	bronchial
32	chr11:85490800-85493200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr11:85490800-85493400	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr11:85491000-85491600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:85491000-85491600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:85491000-85491600	Enhancers	HSMMtube	muscle
37	chr11:85491000-85492800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr11:85491000-85499600	Enhancers	Stomach Mucosa	stomach
39	chr11:85491200-85491400	Enhancers	Brain Substantia Nigra	brain
40	chr11:85491200-85491600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:85491200-85491600	Enhancers	HSMM	muscle
42	chr11:85491200-85493400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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