Variant report

Variant	rs631841
Chromosome Location	chr18:8835390-8835391
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8834969..8836760-chr18:8839023..8841481,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12962546	0.81[ASN][1000 genomes]
rs599678	0.84[EUR][1000 genomes]
rs646828	0.82[EUR][1000 genomes]
rs671680	0.85[EUR][1000 genomes]
rs689975	0.85[EUR][1000 genomes]
rs690076	0.80[EUR][1000 genomes]
rs690311	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs690490	0.90[EUR][1000 genomes]
rs8090953	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv909363	chr18:8775184-8858086	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs631841	DPH1	trans	cerebellum	SCAN
rs631841	GNAL	cis	parietal	SCAN
rs631841	ZFP161	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8822400-8836800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr18:8826200-8839600	Weak transcription	Brain Angular Gyrus	brain
3	chr18:8826400-8841600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr18:8827600-8839000	Weak transcription	Pancreas	Pancrea
5	chr18:8828400-8837000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr18:8829200-8839000	Weak transcription	Fetal Brain Male	brain
7	chr18:8829200-8839000	Weak transcription	Gastric	stomach
8	chr18:8830600-8835600	Weak transcription	Brain Germinal Matrix	brain
9	chr18:8831200-8835600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr18:8832800-8841200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr18:8834400-8836000	Enhancers	Fetal Muscle Leg	muscle
12	chr18:8834600-8835800	Enhancers	NHDF-Ad	bronchial
13	chr18:8834600-8836000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr18:8834600-8836000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr18:8834600-8836000	Enhancers	Colon Smooth Muscle	Colon
16	chr18:8834600-8836000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr18:8834600-8836000	Enhancers	K562	blood
18	chr18:8834600-8836000	Enhancers	Osteobl	bone
19	chr18:8834600-8836200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr18:8834600-8836200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr18:8834600-8836400	Enhancers	HSMM	muscle
22	chr18:8834800-8835400	Flanking Active TSS	HSMMtube	muscle
23	chr18:8834800-8835800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:8834800-8835800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:8834800-8835800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:8834800-8835800	Enhancers	Esophagus	oesophagus
27	chr18:8834800-8835800	Enhancers	Fetal Stomach	stomach
28	chr18:8834800-8835800	Enhancers	Psoas Muscle	Psoas
29	chr18:8834800-8835800	Enhancers	A549	lung
30	chr18:8834800-8835800	Enhancers	NH-A	brain
31	chr18:8834800-8835800	Enhancers	NHLF	lung
32	chr18:8834800-8836000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr18:8834800-8836000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr18:8834800-8836000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr18:8834800-8836000	Enhancers	HMEC	breast
36	chr18:8834800-8836200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr18:8834800-8836200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:8834800-8836200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr18:8834800-8836200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr18:8835000-8835600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr18:8835000-8835800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr18:8835000-8835800	Enhancers	Adipose Nuclei	Adipose
43	chr18:8835000-8835800	Enhancers	Placenta	Placenta
44	chr18:8835000-8835800	Enhancers	Left Ventricle	heart
45	chr18:8835000-8835800	Enhancers	Right Atrium	heart
46	chr18:8835000-8835800	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr18:8835000-8836000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr18:8835000-8836000	Enhancers	Rectal Smooth Muscle	rectum
49	chr18:8835200-8835800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr18:8835200-8835800	Enhancers	Aorta	Aorta

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