Variant report

Variant	rs12281692
Chromosome Location	chr11:67115459-67115460
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67028558..67031077-chr11:67114717..67116735,2	MCF-7	breast:
2	chr11:67088021..67089768-chr11:67113713..67115531,2	K562	blood:
3	chr11:67113591..67116192-chr11:67119640..67121203,2	K562	blood:
4	chr11:67083580..67086941-chr11:67112565..67115612,3	MCF-7	breast:
5	chr11:67113185..67116307-chr11:67139690..67143271,6	K562	blood:
6	chr11:67088738..67091729-chr11:67113065..67116327,3	MCF-7	breast:
7	chr11:67114738..67116307-chr11:67141583..67143467,2	K562	blood:
8	chr11:67075683..67087551-chr11:67114391..67125856,27	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175482	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000256514	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12271246	1.00[AMR][1000 genomes]
rs12279771	1.00[AMR][1000 genomes]
rs12283583	1.00[AMR][1000 genomes]
rs12294605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7940179	1.00[AMR][1000 genomes]
rs7945411	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7952329	1.00[AMR][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	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67086400-67120000	Weak transcription	Brain Germinal Matrix	brain
2	chr11:67086600-67118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:67086800-67118800	Weak transcription	Fetal Brain Male	brain
4	chr11:67087800-67119000	Weak transcription	Fetal Brain Female	brain
5	chr11:67089400-67116800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:67089800-67117000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:67090000-67118600	Weak transcription	Brain Anterior Caudate	brain
8	chr11:67099200-67118600	Weak transcription	Thymus	Thymus
9	chr11:67101600-67116400	Weak transcription	Right Ventricle	heart
10	chr11:67101600-67118600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:67101600-67118600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:67110200-67118600	Enhancers	Primary B cells from peripheral blood	blood
13	chr11:67111400-67117400	Enhancers	Stomach Mucosa	stomach
14	chr11:67111800-67117600	Enhancers	Pancreas	Pancrea
15	chr11:67112000-67118600	Weak transcription	Dnd41	blood
16	chr11:67112200-67118400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:67112400-67118800	Weak transcription	Brain Substantia Nigra	brain
18	chr11:67112600-67118000	Enhancers	Fetal Intestine Large	intestine
19	chr11:67112800-67118400	Weak transcription	Fetal Stomach	stomach
20	chr11:67113200-67116800	Weak transcription	Adipose Nuclei	Adipose
21	chr11:67113200-67119200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:67113400-67115600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:67113400-67118400	Weak transcription	Esophagus	oesophagus
24	chr11:67113400-67118600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:67113400-67118600	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:67113400-67118800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:67113400-67118800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:67113600-67115800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr11:67113800-67115600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:67113800-67117400	Enhancers	Placenta	Placenta
31	chr11:67113800-67120000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:67114000-67115600	Weak transcription	Fetal Thymus	thymus
33	chr11:67114000-67115600	Weak transcription	Gastric	stomach
34	chr11:67114000-67115600	Weak transcription	Spleen	Spleen
35	chr11:67114000-67117200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:67114000-67117200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:67114000-67117400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr11:67114000-67117400	Weak transcription	Small Intestine	intestine
39	chr11:67114000-67117800	Enhancers	Osteobl	bone
40	chr11:67114000-67118400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:67114000-67118600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:67114000-67118600	Weak transcription	Primary T cells from cord blood	blood
43	chr11:67114000-67118600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:67114000-67118800	Weak transcription	Fetal Lung	lung
45	chr11:67114000-67119000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:67114000-67119000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr11:67114000-67120000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:67114000-67120200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr11:67114200-67115600	Weak transcription	GM12878-XiMat	blood
50	chr11:67114200-67115600	Weak transcription	Hela-S3	cervix

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