Variant report

Variant	rs9862513
Chromosome Location	chr3:50056118-50056119
allele	A/C
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:6)

rs_ID	r²[population]
rs17050876	1.00[AMR][1000 genomes]
rs9809001	1.00[AMR][1000 genomes]
rs9826676	1.00[AMR][1000 genomes]
rs9845737	1.00[AMR][1000 genomes]
rs9851837	1.00[AMR][1000 genomes]
rs9869175	1.00[AMR][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	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1012903	chr3:49978765-50071878	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv460527	chr3:50028385-50153356	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv590249	chr3:50028385-50153356	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49998000-50078200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:49998400-50078600	Weak transcription	K562	blood
3	chr3:50002200-50057000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:50006000-50064000	Weak transcription	Stomach Mucosa	stomach
5	chr3:50010800-50087000	Weak transcription	NHLF	lung
6	chr3:50011000-50078400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr3:50011000-50091600	Weak transcription	Colonic Mucosa	Colon
8	chr3:50015200-50092000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:50028000-50056400	Weak transcription	Ovary	ovary
10	chr3:50028800-50082600	Weak transcription	Right Ventricle	heart
11	chr3:50030200-50065600	Weak transcription	Fetal Heart	heart
12	chr3:50035200-50058200	Weak transcription	Esophagus	oesophagus
13	chr3:50036600-50085600	Weak transcription	HUVEC	blood vessel
14	chr3:50037200-50087000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:50037600-50061800	Weak transcription	Small Intestine	intestine
16	chr3:50038400-50084600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr3:50038600-50087400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:50038800-50056800	Weak transcription	HepG2	liver
19	chr3:50039400-50061800	Weak transcription	Colon Smooth Muscle	Colon
20	chr3:50039400-50084600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:50041400-50057000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr3:50041400-50095200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:50041600-50056800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:50041600-50057000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:50041600-50058200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:50041600-50061600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:50041600-50063000	Weak transcription	Brain Substantia Nigra	brain
28	chr3:50041600-50065200	Weak transcription	NH-A	brain
29	chr3:50041600-50085000	Weak transcription	Fetal Brain Female	brain
30	chr3:50041600-50085400	Weak transcription	Brain Angular Gyrus	brain
31	chr3:50041600-50093400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:50041800-50085200	Weak transcription	Fetal Brain Male	brain
33	chr3:50043400-50085200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr3:50044000-50057400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr3:50045200-50085000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:50046200-50059000	Strong transcription	Dnd41	blood
37	chr3:50046800-50056200	Weak transcription	NHEK	skin
38	chr3:50046800-50056600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:50046800-50056600	Weak transcription	Osteobl	bone
40	chr3:50046800-50064600	Weak transcription	Aorta	Aorta
41	chr3:50046800-50065400	Weak transcription	Fetal Kidney	kidney
42	chr3:50046800-50085800	Weak transcription	HMEC	breast
43	chr3:50047000-50061400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr3:50047200-50057000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:50047200-50085200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:50047200-50085400	Weak transcription	Left Ventricle	heart
47	chr3:50047200-50092600	Weak transcription	Gastric	stomach
48	chr3:50047400-50085000	Weak transcription	Lung	lung
49	chr3:50048800-50057800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:50048800-50060200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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