Variant report

Variant	rs9963404
Chromosome Location	chr18:29954921-29954922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29952322..29955283-chr18:29962192..29964133,2	K562	blood:
2	chr18:29950469..29955579-chr18:30048383..30051595,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141441	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11081766	1.00[EUR][1000 genomes]
rs28360758	1.00[EUR][1000 genomes]
rs28405812	0.85[AFR][1000 genomes]
rs28545765	1.00[EUR][1000 genomes]
rs28584588	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7242846	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73421974	1.00[EUR][1000 genomes]
rs8097937	1.00[EUR][1000 genomes]
rs9948201	1.00[EUR][1000 genomes]
rs9949349	1.00[EUR][1000 genomes]
rs9951044	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9963014	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833616	chr18:29792336-29964212	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29946200-29958200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:29946800-29959000	Weak transcription	Fetal Lung	lung
3	chr18:29947200-29957200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr18:29950000-29966200	Weak transcription	Fetal Brain Female	brain
5	chr18:29950800-29956200	Enhancers	Stomach Mucosa	stomach
6	chr18:29951000-29955400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr18:29951000-29956000	Enhancers	Fetal Heart	heart
8	chr18:29951000-29956200	Enhancers	Duodenum Mucosa	Duodenum
9	chr18:29951200-29959200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr18:29951800-29955200	Weak transcription	Psoas Muscle	Psoas
11	chr18:29951800-29961800	Weak transcription	Esophagus	oesophagus
12	chr18:29952800-29957200	Weak transcription	Right Ventricle	heart
13	chr18:29952800-29958200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr18:29952800-29963600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:29952800-29964600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr18:29952800-29973200	Weak transcription	Fetal Stomach	stomach
17	chr18:29953000-29958800	Weak transcription	Right Atrium	heart
18	chr18:29953000-29966600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr18:29953400-29966600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr18:29953600-29958800	Weak transcription	Left Ventricle	heart
21	chr18:29954000-29955000	Enhancers	Hela-S3	cervix
22	chr18:29954000-29958600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr18:29954000-29974000	Weak transcription	HSMMtube	muscle
24	chr18:29954200-29958400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr18:29954200-29960000	Weak transcription	Small Intestine	intestine
26	chr18:29954200-29961800	Weak transcription	Gastric	stomach
27	chr18:29954200-29963200	Weak transcription	HSMM	muscle
28	chr18:29954200-29970800	Weak transcription	Fetal Intestine Large	intestine
29	chr18:29954200-29974400	Weak transcription	Fetal Muscle Leg	muscle
30	chr18:29954400-29955200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr18:29954400-29957200	Weak transcription	Pancreas	Pancrea
32	chr18:29954400-29957800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr18:29954400-29958000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr18:29954400-29958000	Weak transcription	Ovary	ovary
35	chr18:29954400-29958400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr18:29954400-29958600	Weak transcription	NH-A	brain
37	chr18:29954400-29958800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr18:29954400-29961600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr18:29954400-29961800	Weak transcription	Aorta	Aorta
40	chr18:29954400-29962000	Weak transcription	HUVEC	blood vessel
41	chr18:29954400-29962400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr18:29954400-29962800	Weak transcription	Brain Anterior Caudate	brain
43	chr18:29954400-29963000	Weak transcription	Fetal Kidney	kidney
44	chr18:29954400-29972600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr18:29954600-29957200	Weak transcription	Brain Substantia Nigra	brain
46	chr18:29954600-29957600	Weak transcription	HepG2	liver
47	chr18:29954600-29957800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr18:29954600-29958200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr18:29954600-29958200	Weak transcription	Adipose Nuclei	Adipose
50	chr18:29954600-29958400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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