Variant report

Variant	rs66498110
Chromosome Location	chr3:43362618-43362619
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43359634..43362364-chr3:43362365..43365194,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11130000	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11708173	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11709517	0.94[EUR][1000 genomes]
rs11710253	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11711651	0.84[EUR][1000 genomes]
rs11712075	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715609	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11719258	0.87[EUR][1000 genomes]
rs13082581	0.87[EUR][1000 genomes]
rs1506615	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34031620	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35690908	0.87[EUR][1000 genomes]
rs73072960	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs73075063	0.87[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	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43332800-43377000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:43340600-43365600	Weak transcription	Esophagus	oesophagus
3	chr3:43345000-43368200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:43345400-43367400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:43345600-43364400	Weak transcription	HMEC	breast
6	chr3:43346000-43377000	Weak transcription	K562	blood
7	chr3:43346400-43367200	Weak transcription	Fetal Lung	lung
8	chr3:43348400-43378800	Weak transcription	Hela-S3	cervix
9	chr3:43349600-43363200	Weak transcription	GM12878-XiMat	blood
10	chr3:43350000-43367400	Weak transcription	Aorta	Aorta
11	chr3:43350400-43365800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:43351000-43375600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:43352600-43363200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr3:43353000-43374000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:43353200-43367400	Weak transcription	Dnd41	blood
16	chr3:43353400-43375200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:43354400-43369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:43355000-43364600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:43356200-43362800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr3:43356400-43363600	Enhancers	Adipose Nuclei	Adipose
21	chr3:43356600-43363600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr3:43357800-43363600	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr3:43359200-43367000	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:43359400-43366400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:43359400-43366800	Weak transcription	Small Intestine	intestine
26	chr3:43359400-43367800	Weak transcription	Stomach Mucosa	stomach
27	chr3:43359400-43374000	Weak transcription	Placenta	Placenta
28	chr3:43359400-43376600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:43359600-43363400	Enhancers	Liver	Liver
30	chr3:43359600-43364600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:43359600-43366200	Weak transcription	Brain Substantia Nigra	brain
32	chr3:43359600-43367000	Weak transcription	Fetal Intestine Large	intestine
33	chr3:43359600-43367200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr3:43359600-43367200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:43359600-43367200	Weak transcription	Fetal Heart	heart
36	chr3:43359600-43367400	Weak transcription	Fetal Stomach	stomach
37	chr3:43359600-43367400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr3:43359600-43367800	Weak transcription	Brain Anterior Caudate	brain
39	chr3:43359600-43371800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:43359600-43372000	Weak transcription	NHLF	lung
41	chr3:43359600-43372200	Weak transcription	HSMM	muscle
42	chr3:43359600-43375400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:43359600-43376200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr3:43359800-43363000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:43359800-43363200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:43359800-43364800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:43359800-43365000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr3:43359800-43367200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr3:43359800-43367600	Weak transcription	HSMMtube	muscle
50	chr3:43359800-43368000	Weak transcription	Fetal Kidney	kidney

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