Variant report

Variant	rs12270430
Chromosome Location	chr11:85763294-85763295
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85760823..85766402-chr11:85776742..85780604,5	K562	blood:
2	chr11:85758079..85763459-chr11:85776941..85781307,6	MCF-7	breast:
3	chr11:85752345..85755214-chr11:85762057..85763811,2	K562	blood:
4	chr11:85759677..85764331-chr11:85767246..85771680,6	K562	blood:
5	chr11:85762145..85764012-chr11:85775530..85778515,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10501606	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10898429	1.00[AMR][1000 genomes]
rs11234482	1.00[AMR][1000 genomes]
rs11234484	1.00[AMR][1000 genomes]
rs11234490	1.00[AMR][1000 genomes]
rs11234498	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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234525	0.90[AFR][1000 genomes]
rs11234526	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234527	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234528	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234529	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234530	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234553	1.00[AMR][1000 genomes]
rs11234557	1.00[AMR][1000 genomes]
rs12270938	1.00[AMR][1000 genomes]
rs12272711	1.00[AMR][1000 genomes]
rs12276323	1.00[AMR][1000 genomes]
rs12278254	1.00[AMR][1000 genomes]
rs12280026	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283011	1.00[AMR][1000 genomes]
rs12283160	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283400	1.00[AMR][1000 genomes]
rs12283463	1.00[AMR][1000 genomes]
rs12283835	1.00[AMR][1000 genomes]
rs12286862	1.00[AMR][1000 genomes]
rs12288262	1.00[AMR][1000 genomes]
rs12290708	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292101	1.00[AMR][1000 genomes]
rs12293426	1.00[AMR][1000 genomes]
rs12295435	1.00[AMR][1000 genomes]
rs13377593	1.00[AMR][1000 genomes]
rs9804530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv898054	chr11:85683554-85772636	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv468774	chr11:85688209-85775059	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv555644	chr11:85688209-85775059	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85752400-85768400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr11:85752800-85768200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr11:85752800-85776400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:85753200-85764600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:85753200-85768000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr11:85754000-85764000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:85754200-85764000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:85754200-85765200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:85754400-85768200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:85755800-85764000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:85755800-85764000	Weak transcription	HepG2	liver
12	chr11:85756000-85763800	Weak transcription	Spleen	Spleen
13	chr11:85756000-85764200	Weak transcription	Aorta	Aorta
14	chr11:85756000-85765400	Weak transcription	Fetal Muscle Leg	muscle
15	chr11:85756000-85767000	Enhancers	Brain Hippocampus Middle	brain
16	chr11:85756000-85776000	Weak transcription	Esophagus	oesophagus
17	chr11:85756600-85763800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:85756600-85763800	Weak transcription	Gastric	stomach
19	chr11:85756600-85765400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:85756600-85775400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:85758200-85765600	Enhancers	Ovary	ovary
22	chr11:85758400-85765400	Weak transcription	HSMM	muscle
23	chr11:85758600-85763600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:85758600-85763600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:85758600-85763800	Weak transcription	NH-A	brain
26	chr11:85758600-85774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:85758800-85763600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:85758800-85763600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:85758800-85763600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:85758800-85763600	Weak transcription	HMEC	breast
31	chr11:85758800-85763800	Weak transcription	Fetal Intestine Small	intestine
32	chr11:85758800-85763800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:85759000-85763600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr11:85759000-85765400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:85759000-85773600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:85759400-85763600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:85759400-85763800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr11:85759400-85764000	Weak transcription	Right Ventricle	heart
39	chr11:85759400-85766000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:85759400-85768200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr11:85759400-85773800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr11:85759400-85774400	Weak transcription	NHEK	skin
43	chr11:85759800-85772600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:85760000-85763800	Weak transcription	Fetal Heart	heart
45	chr11:85760200-85763800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:85760200-85773000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:85760400-85763600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:85760400-85763800	Weak transcription	Brain Germinal Matrix	brain
49	chr11:85760400-85763800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:85760400-85772000	Weak transcription	Pancreas	Pancrea

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