Variant report

Variant	rs671680
Chromosome Location	chr18:8833087-8833088
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	chr18:8816168..8818222-chr18:8831504..8833305,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs599678	0.96[EUR][1000 genomes]
rs631841	0.85[EUR][1000 genomes]
rs646828	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs650038	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs670578	0.81[EUR][1000 genomes]
rs689975	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs690076	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs690311	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs690490	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs690517	0.81[EUR][1000 genomes]
rs690570	0.95[CEU][hapmap];0.81[EUR][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:54 , 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	chr18:8821400-8834600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr18:8821600-8834800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:8822400-8836800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:8825600-8834000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr18:8825600-8835200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr18:8825800-8833200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:8825800-8835000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr18:8826000-8833400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr18:8826200-8835000	Weak transcription	Placenta	Placenta
13	chr18:8826200-8839600	Weak transcription	Brain Angular Gyrus	brain
14	chr18:8826400-8834800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr18:8826400-8841600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr18:8826800-8835200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr18:8827200-8834800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr18:8827400-8834800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:8827400-8835000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:8827600-8834200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr18:8827600-8834600	Weak transcription	Osteobl	bone
22	chr18:8827600-8834800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr18:8827600-8835200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr18:8827600-8839000	Weak transcription	Pancreas	Pancrea
25	chr18:8828000-8834600	Weak transcription	HSMM	muscle
26	chr18:8828400-8837000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr18:8829200-8835000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr18:8829200-8839000	Weak transcription	Fetal Brain Male	brain
29	chr18:8829200-8839000	Weak transcription	Gastric	stomach
30	chr18:8829400-8834000	Strong transcription	A549	lung
31	chr18:8829800-8833200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:8829800-8833200	Strong transcription	NHDF-Ad	bronchial
33	chr18:8830200-8833400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:8830200-8834800	Weak transcription	NHLF	lung
35	chr18:8830600-8834800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr18:8830600-8834800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr18:8830600-8835600	Weak transcription	Brain Germinal Matrix	brain
38	chr18:8830800-8834800	Weak transcription	Fetal Stomach	stomach
39	chr18:8831000-8834600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr18:8831200-8835600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr18:8831400-8834600	Weak transcription	Colon Smooth Muscle	Colon
42	chr18:8831400-8834600	Weak transcription	K562	blood
43	chr18:8831600-8833600	Strong transcription	NH-A	brain
44	chr18:8831600-8835200	Weak transcription	NHEK	skin
45	chr18:8831800-8834600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr18:8831800-8834800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr18:8831800-8834800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:8831800-8834800	Weak transcription	HMEC	breast
49	chr18:8832600-8833200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr18:8832600-8833200	Enhancers	Fetal Muscle Leg	muscle

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