Variant report

Variant	rs9813653
Chromosome Location	chr3:52391834-52391835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52389433..52392179-chr3:52403246..52405082,2	K562	blood:
2	chr3:52391704..52393563-chr3:52402367..52404938,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10212560	0.83[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10440116	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10865972	1.00[YRI][hapmap]
rs13318570	1.00[AMR][1000 genomes]
rs1541495	1.00[YRI][hapmap]
rs17052143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28413740	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28434358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28636773	1.00[EUR][1000 genomes]
rs34540591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4687614	1.00[YRI][hapmap]
rs5743834	1.00[EUR][1000 genomes]
rs9813448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9813468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9813489	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9814016	1.00[EUR][1000 genomes]
rs9815559	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9821916	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9824342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9828432	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9828488	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9831689	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9834363	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9834919	1.00[EUR][1000 genomes]
rs9836166	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9842960	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs9843055	0.91[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9844178	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9845752	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9857947	1.00[EUR][1000 genomes]
rs9863874	1.00[EUR][1000 genomes]
rs9868332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	98 gene(s)	inside rSNPs	diseases
2	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv984542	chr3:52285682-52516115	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv834696	chr3:52317478-52479537	Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
5	nsv979833	chr3:52387550-52407592	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52364800-52394400	Weak transcription	HSMMtube	muscle
2	chr3:52373800-52396000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:52374000-52399000	Weak transcription	Stomach Mucosa	stomach
4	chr3:52374000-52407000	Strong transcription	Fetal Intestine Small	intestine
5	chr3:52374200-52427000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:52375400-52405600	Strong transcription	Lung	lung
7	chr3:52376400-52402000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:52377000-52406600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:52377000-52406600	Strong transcription	Liver	Liver
10	chr3:52377200-52405200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr3:52377400-52397400	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr3:52377400-52404800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:52377400-52406600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:52377400-52406800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:52377600-52406200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:52377800-52406200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr3:52377800-52407200	Strong transcription	Fetal Intestine Large	intestine
18	chr3:52378400-52400000	Strong transcription	Brain Anterior Caudate	brain
19	chr3:52378400-52401200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:52378400-52401200	Strong transcription	Gastric	stomach
21	chr3:52378400-52401800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:52378600-52400000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:52378600-52400200	Strong transcription	Brain Cingulate Gyrus	brain
24	chr3:52378600-52400200	Strong transcription	Brain Hippocampus Middle	brain
25	chr3:52378600-52405000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr3:52378600-52406800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr3:52379400-52410600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:52380400-52401000	Strong transcription	Placenta	Placenta
29	chr3:52380800-52396400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:52381400-52401200	Strong transcription	Ovary	ovary
31	chr3:52381400-52402600	Strong transcription	Fetal Stomach	stomach
32	chr3:52381400-52404200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr3:52381400-52407400	Weak transcription	NHLF	lung
34	chr3:52381600-52392600	Weak transcription	Colon Smooth Muscle	Colon
35	chr3:52381600-52396400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:52381600-52397600	Strong transcription	Stomach Smooth Muscle	stomach
37	chr3:52381600-52405400	Strong transcription	Adipose Nuclei	Adipose
38	chr3:52381600-52405800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr3:52381800-52397000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:52382200-52395800	Weak transcription	Psoas Muscle	Psoas
41	chr3:52382400-52396000	Strong transcription	Colonic Mucosa	Colon
42	chr3:52383000-52401400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:52383600-52394000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr3:52383600-52394000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr3:52384000-52394400	Weak transcription	Fetal Lung	lung
46	chr3:52384000-52395400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:52384600-52406200	Weak transcription	GM12878-XiMat	blood
48	chr3:52385400-52398400	Strong transcription	Fetal Muscle Leg	muscle
49	chr3:52385400-52434600	Weak transcription	Small Intestine	intestine
50	chr3:52385800-52394000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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