Variant report

Variant	rs12286030
Chromosome Location	chr11:85516198-85516199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85494490..85496333-chr11:85515737..85519342,3	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10501597	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10898409	0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11234386	1.00[EUR][1000 genomes]
rs11234387	1.00[EUR][1000 genomes]
rs11234388	1.00[EUR][1000 genomes]
rs11234390	1.00[EUR][1000 genomes]
rs11234391	0.92[EUR][1000 genomes]
rs11234392	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11234393	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11234395	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11234397	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11234404	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11234408	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11234409	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11234413	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11234415	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11234416	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11234418	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12286043	0.99[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12286206	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12365370	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17148355	1.00[EUR][1000 genomes]
rs17811120	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2044393	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2276018	1.00[EUR][1000 genomes]
rs2304343	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3891432	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
7	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
8	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
9	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
10	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
11	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
12	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85491800-85517800	Weak transcription	NHLF	lung
2	chr11:85499200-85517200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:85499800-85517400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:85503400-85516400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:85509800-85520000	Weak transcription	HSMM	muscle
6	chr11:85510000-85518000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr11:85510800-85516600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:85510800-85520200	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:85511800-85517600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:85512000-85518000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr11:85512000-85520000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:85512200-85517800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:85512200-85518000	Weak transcription	Small Intestine	intestine
14	chr11:85512400-85517800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:85512800-85518000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:85513800-85518000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:85514000-85520000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:85514000-85520200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:85514600-85520200	Weak transcription	Gastric	stomach
20	chr11:85515000-85516200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:85515000-85517200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:85515000-85520000	Weak transcription	Primary T cells from cord blood	blood
23	chr11:85515000-85520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:85515000-85520400	Weak transcription	Fetal Brain Male	brain
25	chr11:85515200-85517800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:85515600-85517800	Weak transcription	Stomach Mucosa	stomach
27	chr11:85516000-85521000	Weak transcription	H9 Cell Line	embryonic stem cell

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