Variant report

Variant	rs11636312
Chromosome Location	chr15:78508557-78508558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMARCC1	chr15:78508142-78509721	Hela-S3	cervix:	n/a	n/a
2	ELK4	chr15:78508537-78508939	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:78504336..78506381-chr15:78507727..78509492,2	MCF-7	breast:
2	chr15:78507204..78508957-chr15:78511024..78513644,2	K562	blood:
3	chr15:78506069..78508704-chr15:78511024..78513521,2	K562	blood:

Variant related genes	Relation type
ACSBG1	TF binding region
ENSG00000103740	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11072744	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs28454342	0.91[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	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78494200-78508800	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr15:78494200-78509800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr15:78494800-78508800	Enhancers	Brain Hippocampus Middle	brain
4	chr15:78494800-78509800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr15:78495400-78510000	Enhancers	Pancreas	Pancrea
6	chr15:78495400-78511000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr15:78502600-78508800	Weak transcription	Gastric	stomach
8	chr15:78504000-78510000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr15:78504400-78509800	Enhancers	Brain Substantia Nigra	brain
10	chr15:78505400-78508600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:78505600-78508600	Weak transcription	NHDF-Ad	bronchial
12	chr15:78505600-78509000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:78505800-78508600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr15:78505800-78508800	Weak transcription	Fetal Intestine Small	intestine
15	chr15:78505800-78509000	Weak transcription	NH-A	brain
16	chr15:78506000-78508600	Weak transcription	Placenta	Placenta
17	chr15:78506000-78508800	Weak transcription	Fetal Intestine Large	intestine
18	chr15:78506600-78508800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:78506600-78509200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:78506800-78509800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:78507000-78509600	Enhancers	A549	lung
22	chr15:78507200-78511000	Enhancers	Fetal Heart	heart
23	chr15:78507400-78508600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:78507400-78509600	Enhancers	Brain Cingulate Gyrus	brain
25	chr15:78507400-78509600	Enhancers	Colon Smooth Muscle	Colon
26	chr15:78507600-78509000	Weak transcription	HSMMtube	muscle
27	chr15:78507600-78510000	Enhancers	Duodenum Mucosa	Duodenum
28	chr15:78508000-78510400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr15:78508200-78508600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:78508200-78508600	Enhancers	Small Intestine	intestine
31	chr15:78508200-78508800	Enhancers	Stomach Smooth Muscle	stomach
32	chr15:78508200-78509000	Enhancers	Brain Angular Gyrus	brain
33	chr15:78508200-78509000	Enhancers	Right Ventricle	heart
34	chr15:78508200-78509200	Enhancers	Right Atrium	heart
35	chr15:78508200-78509400	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr15:78508200-78509600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:78508200-78509600	Enhancers	Liver	Liver
38	chr15:78508200-78509600	Enhancers	Brain Anterior Caudate	brain
39	chr15:78508200-78509600	Enhancers	Esophagus	oesophagus
40	chr15:78508200-78509600	Enhancers	Left Ventricle	heart
41	chr15:78508200-78509600	Enhancers	Psoas Muscle	Psoas
42	chr15:78508200-78509600	Flanking Active TSS	Hela-S3	cervix
43	chr15:78508200-78509800	Enhancers	Colonic Mucosa	Colon
44	chr15:78508200-78509800	Enhancers	Stomach Mucosa	stomach
45	chr15:78508200-78510400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr15:78508400-78509200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:78508400-78509400	Enhancers	Fetal Muscle Leg	muscle
48	chr15:78508400-78509800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:78508400-78509800	Enhancers	Adipose Nuclei	Adipose
50	chr15:78508400-78509800	Enhancers	Rectal Smooth Muscle	rectum

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