Variant report

Variant	rs8041180
Chromosome Location	chr15:40638621-40638622
allele	A/G
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	MAZ	chr15:40638520-40638697	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40636488..40640670-chr15:40658670..40661972,5	MCF-7	breast:
2	chr15:40636615..40640420-chr15:40645186..40649108,5	K562	blood:
3	chr15:40626473..40628629-chr15:40636681..40638741,2	K562	blood:
4	chr15:40636033..40638861-chr15:40659207..40662844,4	K562	blood:

Variant related genes	Relation type
PHGR1	TF binding region
ENSG00000140323	Chromatin interaction
ENSG00000259368	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs55738516	1.00[EUR][1000 genomes]
rs56874918	1.00[EUR][1000 genomes]
rs57314452	1.00[EUR][1000 genomes]
rs57767693	1.00[EUR][1000 genomes]
rs57856697	1.00[EUR][1000 genomes]
rs7174686	1.00[EUR][1000 genomes]
rs7180770	1.00[EUR][1000 genomes]
rs73391360	1.00[EUR][1000 genomes]
rs73391377	1.00[EUR][1000 genomes]
rs74010790	1.00[EUR][1000 genomes]
rs74010791	1.00[EUR][1000 genomes]
rs74010792	1.00[EUR][1000 genomes]
rs74010793	1.00[EUR][1000 genomes]
rs74010794	1.00[EUR][1000 genomes]
rs74010796	1.00[EUR][1000 genomes]
rs8039484	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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40625800-40642800	Enhancers	Fetal Intestine Large	intestine
2	chr15:40633000-40638800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:40633000-40640600	Enhancers	Fetal Intestine Small	intestine
4	chr15:40633200-40639400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:40633200-40641600	Enhancers	Esophagus	oesophagus
6	chr15:40633600-40642800	Enhancers	Stomach Mucosa	stomach
7	chr15:40633600-40644800	Weak transcription	Brain Germinal Matrix	brain
8	chr15:40633600-40645600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:40634800-40641000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr15:40635200-40641400	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr15:40635800-40641000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:40636000-40638800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:40636400-40650000	Weak transcription	Right Atrium	heart
14	chr15:40636800-40639800	Enhancers	Gastric	stomach
15	chr15:40636800-40646200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:40637000-40639000	Enhancers	Placenta	Placenta
17	chr15:40637000-40640000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr15:40637000-40640000	Enhancers	Small Intestine	intestine
19	chr15:40637200-40638800	Weak transcription	Brain Anterior Caudate	brain
20	chr15:40637200-40638800	Weak transcription	Brain Substantia Nigra	brain
21	chr15:40637200-40640000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:40637200-40642600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr15:40637200-40642600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:40637200-40642600	Weak transcription	Fetal Muscle Leg	muscle
25	chr15:40637200-40644800	Weak transcription	Fetal Brain Female	brain
26	chr15:40637200-40645600	Weak transcription	Brain Angular Gyrus	brain
27	chr15:40637400-40639000	Weak transcription	NHEK	skin
28	chr15:40637400-40640200	Weak transcription	Right Ventricle	heart
29	chr15:40637400-40644800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:40637400-40645400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr15:40637400-40645800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr15:40637400-40649600	Weak transcription	Spleen	Spleen
33	chr15:40637600-40639000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:40637600-40639000	Weak transcription	Fetal Heart	heart
35	chr15:40637600-40640400	Weak transcription	Fetal Brain Male	brain
36	chr15:40637600-40641200	Enhancers	HepG2	liver
37	chr15:40638000-40639000	Active TSS	Rectal Smooth Muscle	rectum
38	chr15:40638000-40640000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:40638000-40640800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr15:40638200-40639200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr15:40638400-40638800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:40638400-40638800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr15:40638400-40638800	Enhancers	Colonic Mucosa	Colon
44	chr15:40638400-40638800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr15:40638400-40639000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:40638400-40639000	Enhancers	Duodenum Mucosa	Duodenum
47	chr15:40638400-40639000	Enhancers	HSMMtube	muscle
48	chr15:40638400-40639600	Enhancers	HMEC	breast
49	chr15:40638600-40638800	Enhancers	A549	lung
50	chr15:40638600-40639000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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