Variant report

Variant	rs1809487
Chromosome Location	chr3:47434767-47434768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47422143..47425144-chr3:47434372..47437605,4	K562	blood:
2	chr3:47434735..47437692-chr3:47441632..47443336,2	MCF-7	breast:
3	chr3:47420390..47423413-chr3:47432590..47434998,3	MCF-7	breast:
4	chr3:47434120..47436973-chr3:47451029..47453038,2	K562	blood:
5	chr3:47433768..47435612-chr3:47436207..47439054,2	K562	blood:
6	chr3:47432633..47435080-chr3:47446859..47450404,3	K562	blood:

Variant related genes	Relation type
ENSG00000076201	Chromatin interaction
ENSG00000260236	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55736379	1.00[AMR][1000 genomes]
rs6442066	1.00[AMR][1000 genomes]
rs73831515	1.00[AMR][1000 genomes]
rs900691	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	esv1807553	chr3:47393616-47470763	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv3802	chr3:47396674-47441951	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47423600-47435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:47423600-47435400	Weak transcription	Aorta	Aorta
3	chr3:47423600-47446000	Weak transcription	Colonic Mucosa	Colon
4	chr3:47423800-47435000	Weak transcription	Fetal Heart	heart
5	chr3:47423800-47435000	Weak transcription	NHDF-Ad	bronchial
6	chr3:47423800-47435400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:47423800-47435400	Weak transcription	Fetal Lung	lung
8	chr3:47423800-47435400	Weak transcription	NH-A	brain
9	chr3:47423800-47435600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:47423800-47435600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:47423800-47435600	Weak transcription	Hela-S3	cervix
12	chr3:47423800-47435600	Weak transcription	HSMMtube	muscle
13	chr3:47423800-47435800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:47423800-47436400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:47423800-47436600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:47423800-47438800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:47423800-47447400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:47423800-47448000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:47423800-47449800	Weak transcription	A549	lung
20	chr3:47424000-47436400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:47424000-47446000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:47424800-47435600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:47425200-47435600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:47425400-47435600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr3:47425400-47435600	Weak transcription	Adipose Nuclei	Adipose
26	chr3:47425400-47435600	Weak transcription	Small Intestine	intestine
27	chr3:47425400-47435800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr3:47425600-47435600	Weak transcription	Brain Anterior Caudate	brain
29	chr3:47426200-47462400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr3:47427000-47435600	Weak transcription	HMEC	breast
31	chr3:47427200-47435400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:47427200-47435600	Weak transcription	Stomach Mucosa	stomach
33	chr3:47427400-47435200	Strong transcription	Fetal Intestine Small	intestine
34	chr3:47427400-47435400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:47427400-47435800	Weak transcription	Esophagus	oesophagus
36	chr3:47427600-47435400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr3:47427600-47435600	Weak transcription	Brain Substantia Nigra	brain
38	chr3:47427600-47435600	Weak transcription	Right Ventricle	heart
39	chr3:47427600-47436600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:47427600-47448400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr3:47427800-47435000	Weak transcription	Liver	Liver
42	chr3:47427800-47436800	Weak transcription	Brain Germinal Matrix	brain
43	chr3:47428200-47435600	Weak transcription	Colon Smooth Muscle	Colon
44	chr3:47428200-47449000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr3:47428400-47437600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr3:47428600-47435400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:47428600-47435400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:47428800-47436400	Weak transcription	Thymus	Thymus
49	chr3:47428800-47437000	Weak transcription	GM12878-XiMat	blood
50	chr3:47429000-47437000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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