Variant report

Variant	rs11169077
Chromosome Location	chr12:49976242-49976243
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr12:49975916-49976438	GM12878	blood:	n/a	n/a
2	NFIC	chr12:49975888-49976404	GM12878	blood:	n/a	n/a
3	MTA3	chr12:49975831-49976409	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:49959993..49964620-chr12:49965374..49976382,20	MCF-7	breast:
2	chr12:49965859..49967521-chr12:49975091..49977104,2	MCF-7	breast:
3	chr12:49973429..49976303-chr12:49976723..49979573,2	MCF-7	breast:
4	chr12:49941038..49943028-chr12:49974418..49976418,2	MCF-7	breast:
5	chr12:49976050..49978661-chr12:50015939..50018173,2	MCF-7	breast:
6	chr12:49974767..49977592-chr12:49986601..49989238,2	K562	blood:
7	chr12:49970745..49972990-chr12:49975161..49977938,2	K562	blood:
8	chr12:49954922..49957828-chr12:49974497..49976427,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257964	TF binding region
PRPF40B	TF binding region
ENSG00000199237	Chromatin interaction
ENSG00000187778	Chromatin interaction
ENSG00000257964	Chromatin interaction
ENSG00000257243	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000258284	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10047567	1.00[AFR][1000 genomes]
rs10467104	1.00[AFR][1000 genomes]
rs11168994	1.00[AFR][1000 genomes]
rs11169030	1.00[AFR][1000 genomes]
rs11169036	1.00[AFR][1000 genomes]
rs11169072	1.00[AFR][1000 genomes]
rs11169096	1.00[AFR][1000 genomes]
rs11169119	1.00[AFR][1000 genomes]
rs12297088	1.00[AFR][1000 genomes]
rs12299386	1.00[AFR][1000 genomes]
rs12300053	1.00[AFR][1000 genomes]
rs12301239	1.00[AFR][1000 genomes]
rs12305870	1.00[AFR][1000 genomes]
rs12309765	1.00[AFR][1000 genomes]
rs12310439	1.00[AFR][1000 genomes]
rs12313145	1.00[AFR][1000 genomes]
rs12322175	1.00[AFR][1000 genomes]
rs12322207	1.00[AFR][1000 genomes]
rs12322413	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
4	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49963000-49979200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:49963000-49979200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:49963000-49982200	Weak transcription	NHLF	lung
4	chr12:49963000-49984800	Weak transcription	Small Intestine	intestine
5	chr12:49963000-50003200	Weak transcription	Aorta	Aorta
6	chr12:49963200-49976400	Weak transcription	Osteobl	bone
7	chr12:49963200-49977200	Weak transcription	Thymus	Thymus
8	chr12:49963200-49977200	Weak transcription	NHEK	skin
9	chr12:49963200-49986800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:49963400-49984800	Weak transcription	Primary B cells from cord blood	blood
11	chr12:49963600-49977000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:49965400-49976400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:49965400-49976600	Weak transcription	Dnd41	blood
14	chr12:49967800-49987400	Weak transcription	Hela-S3	cervix
15	chr12:49968400-49978000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:49968800-49977200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:49969000-49977400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:49970600-49976400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:49971200-49984800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:49971400-49976400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:49971400-49977400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:49972000-49977400	Weak transcription	Lung	lung
23	chr12:49972000-49982200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:49972400-49977200	Weak transcription	Right Atrium	heart
25	chr12:49972600-49976600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:49972600-49977400	Weak transcription	Spleen	Spleen
27	chr12:49973200-49976600	Weak transcription	Brain Germinal Matrix	brain
28	chr12:49973400-49976600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:49973600-49977400	Enhancers	Fetal Muscle Trunk	muscle
30	chr12:49973600-49977400	Enhancers	Fetal Muscle Leg	muscle
31	chr12:49973800-49977400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr12:49973800-49982400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr12:49974000-49977400	Enhancers	Fetal Heart	heart
34	chr12:49974000-49977400	Enhancers	HSMMtube	muscle
35	chr12:49974400-49976600	Weak transcription	Brain Anterior Caudate	brain
36	chr12:49974400-49978600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:49974400-49982400	Weak transcription	NHDF-Ad	bronchial
38	chr12:49974400-49983000	Weak transcription	Gastric	stomach
39	chr12:49974600-49982600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:49974800-49976400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:49974800-49976600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:49974800-49976600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:49974800-49976600	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:49974800-49977200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:49974800-49977200	Weak transcription	Left Ventricle	heart
46	chr12:49974800-49977200	Weak transcription	Pancreas	Pancrea
47	chr12:49974800-49977400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:49974800-49977400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:49974800-49977400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:49974800-49977800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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