Variant report

Variant	rs12365370
Chromosome Location	chr11:85499983-85499984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85498273..85503366-chr11:85519717..85522661,4	MCF-7	breast:
2	chr11:85491140..85492854-chr11:85498576..85500721,2	MCF-7	breast:
3	chr11:85495095..85500419-chr11:85536956..85541120,6	MCF-7	breast:
4	chr11:85498616..85500121-chr11:85521754..85523993,2	MCF-7	breast:
5	chr11:85498596..85501335-chr11:85503277..85506265,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137501	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10501597	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10898409	1.00[ASN][1000 genomes]
rs11234386	0.95[EUR][1000 genomes]
rs11234387	0.95[EUR][1000 genomes]
rs11234388	0.95[EUR][1000 genomes]
rs11234390	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11234391	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11234392	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11234393	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11234395	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11234397	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11234404	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11234408	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11234409	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11234413	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11234415	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11234416	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11234418	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12286030	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12286206	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17148355	0.95[EUR][1000 genomes]
rs17811120	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2044393	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2276018	0.95[EUR][1000 genomes]
rs2304343	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3891432	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73518846	0.92[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	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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85491800-85517800	Weak transcription	NHLF	lung
2	chr11:85492200-85502800	Weak transcription	Small Intestine	intestine
3	chr11:85493400-85501200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:85493400-85502400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:85494000-85502400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:85496400-85510600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:85497200-85500000	Enhancers	Fetal Intestine Large	intestine
8	chr11:85497600-85500000	Enhancers	Fetal Intestine Small	intestine
9	chr11:85498200-85500000	Enhancers	HSMMtube	muscle
10	chr11:85498800-85503200	Weak transcription	Colonic Mucosa	Colon
11	chr11:85499000-85500000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:85499000-85500000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:85499200-85510400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr11:85499200-85517200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:85499400-85500000	Enhancers	HMEC	breast
16	chr11:85499400-85503400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr11:85499400-85505600	Weak transcription	Primary T cells from cord blood	blood
18	chr11:85499600-85501200	Weak transcription	Stomach Mucosa	stomach
19	chr11:85499600-85502400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:85499600-85503000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:85499800-85500000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:85499800-85500000	Enhancers	A549	lung
23	chr11:85499800-85502800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:85499800-85517400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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