Variant report

Variant	rs9882714
Chromosome Location	chr3:48933482-48933483
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:48924606..48926338-chr3:48931670..48934413,2	K562	blood:
2	chr3:48933374..48937590-chr3:48954193..48958596,7	K562	blood:
3	chr3:48928069..48930846-chr3:48933340..48936058,2	K562	blood:
4	chr3:48931410..48934098-chr3:49449742..49451879,2	K562	blood:

Variant related genes	Relation type
ENSG00000067560	Chromatin interaction
ENSG00000145022	Chromatin interaction
ENSG00000221883	Chromatin interaction
ENSG00000177479	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13318132	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs14828	1.00[EUR][1000 genomes]
rs28523319	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28615670	1.00[EUR][1000 genomes]
rs4527417	1.00[EUR][1000 genomes]
rs58708931	1.00[EUR][1000 genomes]
rs58835493	1.00[EUR][1000 genomes]
rs58914641	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58998762	1.00[EUR][1000 genomes]
rs59352296	1.00[EUR][1000 genomes]
rs60338814	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60352528	1.00[EUR][1000 genomes]
rs61008775	1.00[EUR][1000 genomes]
rs61744082	1.00[EUR][1000 genomes]
rs6791777	1.00[EUR][1000 genomes]
rs72930094	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72931155	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72931157	1.00[EUR][1000 genomes]
rs72931171	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72934791	1.00[EUR][1000 genomes]
rs72936804	1.00[EUR][1000 genomes]
rs72936810	1.00[EUR][1000 genomes]
rs72936890	1.00[EUR][1000 genomes]
rs73830466	1.00[EUR][1000 genomes]
rs73830478	1.00[EUR][1000 genomes]
rs73833525	1.00[EUR][1000 genomes]
rs9811460	1.00[EUR][1000 genomes]
rs9814413	1.00[EUR][1000 genomes]
rs9820609	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9833422	1.00[EUR][1000 genomes]
rs9849446	1.00[EUR][1000 genomes]
rs9860187	1.00[EUR][1000 genomes]
rs9875203	1.00[EUR][1000 genomes]
rs9876812	1.00[EUR][1000 genomes]
rs9877045	1.00[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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48889600-48935400	Weak transcription	Brain Germinal Matrix	brain
2	chr3:48896400-48934400	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:48896800-48934200	Weak transcription	Stomach Mucosa	stomach
4	chr3:48896800-48935000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:48897000-48933600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:48897000-48934200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:48897000-48934200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:48897200-48934200	Weak transcription	Colonic Mucosa	Colon
9	chr3:48897200-48935000	Weak transcription	NH-A	brain
10	chr3:48897200-48935200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:48897400-48934600	Weak transcription	Brain Anterior Caudate	brain
12	chr3:48900200-48935000	Weak transcription	Esophagus	oesophagus
13	chr3:48902600-48935000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:48914600-48933600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:48916600-48935000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:48917000-48934800	Weak transcription	NHDF-Ad	bronchial
17	chr3:48917600-48934200	Weak transcription	Osteobl	bone
18	chr3:48917600-48934800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:48917800-48934200	Weak transcription	GM12878-XiMat	blood
20	chr3:48919400-48935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:48919600-48934400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr3:48920000-48933600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr3:48920000-48934200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:48920400-48934200	Weak transcription	Fetal Heart	heart
25	chr3:48921600-48935000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:48922600-48934400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr3:48922600-48935000	Weak transcription	Brain Angular Gyrus	brain
28	chr3:48923000-48935000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr3:48923400-48934200	Weak transcription	Small Intestine	intestine
30	chr3:48923600-48935000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:48924800-48933600	Weak transcription	HepG2	liver
32	chr3:48924800-48934200	Weak transcription	Ovary	ovary
33	chr3:48924800-48934400	Weak transcription	Placenta	Placenta
34	chr3:48924800-48934800	Weak transcription	Right Atrium	heart
35	chr3:48924800-48935200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:48925000-48935000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr3:48925200-48934800	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:48925400-48935000	Weak transcription	Aorta	Aorta
39	chr3:48925600-48933600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:48926000-48935400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:48926800-48935000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:48927000-48933800	Weak transcription	NHEK	skin
43	chr3:48928200-48935400	Weak transcription	Fetal Brain Male	brain
44	chr3:48929200-48934800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:48929400-48933600	Weak transcription	Fetal Intestine Large	intestine
46	chr3:48929400-48934200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:48929400-48934200	Weak transcription	Fetal Thymus	thymus
48	chr3:48929400-48934200	Weak transcription	Left Ventricle	heart
49	chr3:48929400-48934200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr3:48929400-48935600	Weak transcription	Fetal Stomach	stomach

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