Variant report

Variant	rs12574950
Chromosome Location	chr11:8057260-8057261
allele	A/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:5)
LncRNA
region (count:1)
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	ZNF263	chr11:8057260-8057573	HEK293-T-REx	kidney:	n/a	n/a
2	CTCF	chr11:8057260-8057410	Caco-2	colon:	n/a	n/a
3	CTCF	chr11:8057240-8057390	HMEC	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8055622..8058095-chr11:8058750..8061229,2	K562	blood:
2	chr11:8047756..8050115-chr11:8056077..8058244,2	MCF-7	breast:
3	chr11:8050565..8052197-chr11:8055086..8058020,2	MCF-7	breast:
4	chr11:8055622..8058575-chr11:8058750..8061293,2	K562	blood:
5	chr11:8011622..8013297-chr11:8056375..8059181,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RIC3-1	chr11:8056993-8057605	ENSG00000254921.1

No data

Variant related genes	Relation type
TUB	TF binding region
ENSG00000254921	Chromatin interaction
ENSG00000166402	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10769863	1.00[EUR][1000 genomes]
rs4375428	1.00[EUR][1000 genomes]
rs4514405	1.00[EUR][1000 genomes]
rs56395552	1.00[EUR][1000 genomes]
rs60024227	1.00[EUR][1000 genomes]
rs7107979	1.00[EUR][1000 genomes]
rs73396713	1.00[EUR][1000 genomes]
rs7926626	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv983216	chr11:8056182-8060154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8054200-8057800	Enhancers	Fetal Heart	heart
2	chr11:8054600-8057600	Enhancers	Fetal Brain Male	brain
3	chr11:8054600-8057600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr11:8054600-8057800	Enhancers	Fetal Intestine Large	intestine
5	chr11:8054600-8058000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr11:8055000-8057400	Enhancers	Fetal Stomach	stomach
7	chr11:8055200-8057600	Enhancers	Duodenum Mucosa	Duodenum
8	chr11:8055200-8058000	Enhancers	Adipose Nuclei	Adipose
9	chr11:8055200-8059600	Weak transcription	Brain Angular Gyrus	brain
10	chr11:8055400-8059400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:8055400-8059600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:8055400-8059600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:8055800-8057400	Weak transcription	Fetal Thymus	thymus
14	chr11:8055800-8059600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:8055800-8060000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:8056200-8057400	Enhancers	Right Atrium	heart
17	chr11:8056200-8057800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:8056200-8058000	Enhancers	Left Ventricle	heart
19	chr11:8056200-8059400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:8056400-8057600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:8056600-8059200	Weak transcription	Brain Anterior Caudate	brain
22	chr11:8056800-8057400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:8056800-8057600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:8056800-8061400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:8057000-8057400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:8057000-8057400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:8057000-8057400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:8057000-8057400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr11:8057000-8057400	Enhancers	Fetal Muscle Leg	muscle
30	chr11:8057000-8057600	Enhancers	Esophagus	oesophagus
31	chr11:8057000-8057600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr11:8057000-8058000	Enhancers	Ovary	ovary
33	chr11:8057000-8058200	Enhancers	Right Ventricle	heart
34	chr11:8057000-8059800	Weak transcription	Fetal Brain Female	brain
35	chr11:8057200-8059200	Weak transcription	Brain Germinal Matrix	brain

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