Variant report

Variant	rs12283160
Chromosome Location	chr11:85775818-85775819
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85774012..85776185-chr11:85778129..85779860,2	MCF-7	breast:
2	chr11:85762145..85764012-chr11:85775530..85778515,2	MCF-7	breast:
3	chr11:85775759..85778337-chr11:85946507..85948966,2	K562	blood:
4	chr11:85775786..85777864-chr11:85954494..85956140,2	MCF-7	breast:
5	chr11:85775018..85777414-chr11:85781077..85783520,2	K562	blood:
6	chr11:85755134..85758081-chr11:85773891..85777241,3	K562	blood:
7	chr11:85773252..85777138-chr11:85860597..85863727,3	K562	blood:
8	chr11:85774766..85777240-chr11:85903999..85905671,2	K562	blood:
9	chr11:85775017..85777690-chr11:85953768..85955485,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000074266	Chromatin interaction
ENSG00000073921	Chromatin interaction
ENSG00000254699	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10501606	1.00[AMR][1000 genomes]
rs10898429	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234482	1.00[AMR][1000 genomes]
rs11234484	1.00[AMR][1000 genomes]
rs11234490	1.00[AMR][1000 genomes]
rs11234498	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234506	1.00[AMR][1000 genomes]
rs11234509	1.00[AMR][1000 genomes]
rs11234516	1.00[AMR][1000 genomes]
rs11234521	1.00[AMR][1000 genomes]
rs11234522	1.00[AMR][1000 genomes]
rs11234526	0.87[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234527	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234528	1.00[AMR][1000 genomes]
rs11234529	1.00[AMR][1000 genomes]
rs11234530	1.00[AMR][1000 genomes]
rs11234553	1.00[AMR][1000 genomes]
rs11234557	1.00[AMR][1000 genomes]
rs12270430	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270938	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272711	1.00[AMR][1000 genomes]
rs12276323	1.00[AMR][1000 genomes]
rs12278254	1.00[AMR][1000 genomes]
rs12280026	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283011	1.00[AMR][1000 genomes]
rs12283400	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283463	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283835	1.00[AMR][1000 genomes]
rs12286862	1.00[AMR][1000 genomes]
rs12288262	0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290708	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292101	1.00[AMR][1000 genomes]
rs12293426	1.00[AMR][1000 genomes]
rs12295435	0.87[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377593	1.00[AMR][1000 genomes]
rs9804530	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv3434753	chr11:85775448-85775917	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85752800-85776400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:85756000-85776000	Weak transcription	Esophagus	oesophagus
3	chr11:85764400-85777000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:85765600-85777800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:85768800-85776600	Enhancers	Liver	Liver
6	chr11:85769400-85776400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr11:85769400-85777200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr11:85770400-85776600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:85770800-85776600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:85770800-85776600	Weak transcription	Stomach Mucosa	stomach
11	chr11:85770800-85776800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:85770800-85777600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:85770800-85778200	Weak transcription	Gastric	stomach
14	chr11:85771200-85776600	Enhancers	HepG2	liver
15	chr11:85772200-85777400	Weak transcription	Colonic Mucosa	Colon
16	chr11:85772400-85776600	Weak transcription	Aorta	Aorta
17	chr11:85772600-85776600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:85772800-85776600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:85772800-85777200	Enhancers	Primary B cells from peripheral blood	blood
20	chr11:85773200-85776000	Enhancers	Brain Anterior Caudate	brain
21	chr11:85773200-85776600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr11:85773200-85776600	Active TSS	K562	blood
23	chr11:85773200-85778200	Weak transcription	Pancreas	Pancrea
24	chr11:85773400-85777600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:85773600-85776200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:85773600-85776200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr11:85773600-85776200	Flanking Active TSS	HUVEC	blood vessel
28	chr11:85773600-85776800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:85773600-85777800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:85773600-85778800	Weak transcription	Spleen	Spleen
31	chr11:85773600-85781000	Active TSS	Right Ventricle	heart
32	chr11:85773800-85776200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:85773800-85776400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:85773800-85777000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:85773800-85780600	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr11:85773800-85780600	Active TSS	GM12878-XiMat	blood
37	chr11:85774000-85776400	Enhancers	Brain Substantia Nigra	brain
38	chr11:85774000-85776800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:85774000-85777400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:85774200-85776000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:85774400-85776600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr11:85774600-85776000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr11:85774600-85777000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr11:85774800-85776400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:85774800-85776600	Enhancers	Primary hematopoietic stem cells	blood
46	chr11:85774800-85776600	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr11:85774800-85777000	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr11:85775000-85776200	Enhancers	Fetal Brain Female	brain
49	chr11:85775000-85776200	Flanking Active TSS	Osteobl	bone
50	chr11:85775000-85776400	Flanking Active TSS	HMEC	breast

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