Variant report

Variant	rs66653195
Chromosome Location	chr3:48833348-48833349
allele	AT/GG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11130176	0.80[EUR][1000 genomes]
rs7373778	0.81[EUR][1000 genomes]
rs7627404	0.80[EUR][1000 genomes]
rs7653459	0.82[EUR][1000 genomes]
rs9311430	0.80[EUR][1000 genomes]
rs9311432	0.80[EUR][1000 genomes]
rs9682444	0.80[EUR][1000 genomes]
rs9835307	0.80[EUR][1000 genomes]
rs9876848	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487342	chr3:48823957-48960475	Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	esv3487343	chr3:48823963-48960381	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48778200-48836600	Weak transcription	A549	lung
2	chr3:48789400-48844000	Weak transcription	Fetal Lung	lung
3	chr3:48795200-48833600	Weak transcription	Psoas Muscle	Psoas
4	chr3:48809000-48849400	Weak transcription	GM12878-XiMat	blood
5	chr3:48810000-48882800	Weak transcription	Fetal Brain Female	brain
6	chr3:48810400-48848600	Weak transcription	Brain Anterior Caudate	brain
7	chr3:48810600-48835000	Weak transcription	HUVEC	blood vessel
8	chr3:48810600-48842600	Weak transcription	Pancreas	Pancrea
9	chr3:48810800-48836600	Weak transcription	Hela-S3	cervix
10	chr3:48820400-48868200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:48820600-48836200	Weak transcription	Fetal Kidney	kidney
12	chr3:48820600-48840200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:48820600-48882800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:48820800-48843200	Weak transcription	Right Ventricle	heart
15	chr3:48820800-48847200	Weak transcription	NHDF-Ad	bronchial
16	chr3:48821000-48833400	Weak transcription	HSMM	muscle
17	chr3:48821000-48840600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:48821000-48849000	Weak transcription	NHLF	lung
19	chr3:48821000-48858000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr3:48821000-48858200	Weak transcription	Gastric	stomach
21	chr3:48822200-48843600	Weak transcription	Fetal Intestine Large	intestine
22	chr3:48822200-48855800	Weak transcription	Lung	lung
23	chr3:48822400-48833600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:48822400-48833800	Weak transcription	Brain Substantia Nigra	brain
25	chr3:48822400-48848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:48822400-48857800	Weak transcription	NHEK	skin
27	chr3:48822400-48858200	Weak transcription	HSMMtube	muscle
28	chr3:48822600-48833400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:48824000-48842800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:48825600-48836400	Weak transcription	Liver	Liver
31	chr3:48825800-48837800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:48826400-48868400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr3:48826600-48833600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr3:48826600-48842600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:48826800-48833800	Weak transcription	K562	blood
36	chr3:48826800-48841000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:48826800-48842000	Weak transcription	Aorta	Aorta
38	chr3:48826800-48842400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr3:48826800-48847200	Weak transcription	Primary T cells from cord blood	blood
40	chr3:48826800-48847200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr3:48826800-48847200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr3:48826800-48847200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:48826800-48847600	Weak transcription	Brain Germinal Matrix	brain
44	chr3:48826800-48848800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:48826800-48858200	Weak transcription	Brain Angular Gyrus	brain
46	chr3:48826800-48869600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr3:48826800-48882800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr3:48827000-48847200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr3:48827000-48847200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:48827000-48848800	Weak transcription	Brain Hippocampus Middle	brain

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