Variant report

Variant	rs4798691
Chromosome Location	chr18:8831303-8831304
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8827382..8829668-chr18:8830158..8832451,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11081410	0.88[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs12956170	0.86[CHB][hapmap]
rs12956773	0.88[CHB][hapmap]
rs12957034	1.00[CHB][hapmap]
rs1564484	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs2170297	0.88[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2242273	0.88[CHB][hapmap];0.89[JPT][hapmap];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34740257	0.80[ASN][1000 genomes]
rs7233770	0.88[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7240816	0.88[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8801200-8834800	Weak transcription	Esophagus	oesophagus
2	chr18:8807800-8835200	Weak transcription	Right Ventricle	heart
3	chr18:8817200-8834800	Weak transcription	Psoas Muscle	Psoas
4	chr18:8821400-8831600	Weak transcription	Aorta	Aorta
5	chr18:8821400-8834600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr18:8821600-8834800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:8822400-8836800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr18:8823200-8831800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:8825400-8831600	Weak transcription	Ovary	ovary
10	chr18:8825600-8834000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr18:8825600-8835200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr18:8825800-8833200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr18:8825800-8835000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr18:8826000-8833400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr18:8826200-8835000	Weak transcription	Placenta	Placenta
16	chr18:8826200-8839600	Weak transcription	Brain Angular Gyrus	brain
17	chr18:8826400-8832200	Weak transcription	Fetal Intestine Small	intestine
18	chr18:8826400-8834800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:8826400-8841600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr18:8826800-8835200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr18:8827000-8831800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr18:8827200-8834800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr18:8827400-8832600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr18:8827400-8834800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr18:8827400-8835000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr18:8827600-8831600	Weak transcription	NH-A	brain
27	chr18:8827600-8832800	Weak transcription	HSMMtube	muscle
28	chr18:8827600-8834200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr18:8827600-8834600	Weak transcription	Osteobl	bone
30	chr18:8827600-8834800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr18:8827600-8835200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr18:8827600-8839000	Weak transcription	Pancreas	Pancrea
33	chr18:8827800-8831800	Weak transcription	Fetal Brain Female	brain
34	chr18:8828000-8834600	Weak transcription	HSMM	muscle
35	chr18:8828400-8832200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr18:8828400-8837000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr18:8829200-8835000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr18:8829200-8839000	Weak transcription	Fetal Brain Male	brain
39	chr18:8829200-8839000	Weak transcription	Gastric	stomach
40	chr18:8829400-8834000	Strong transcription	A549	lung
41	chr18:8829800-8833200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr18:8829800-8833200	Strong transcription	NHDF-Ad	bronchial
43	chr18:8830000-8831800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr18:8830000-8831800	Enhancers	Stomach Smooth Muscle	stomach
45	chr18:8830200-8833400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:8830200-8834800	Weak transcription	NHLF	lung
47	chr18:8830400-8831600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr18:8830400-8831600	Enhancers	NHEK	skin
49	chr18:8830400-8831800	Enhancers	HMEC	breast
50	chr18:8830600-8831600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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