Variant report

Variant	rs16859214
Chromosome Location	chr3:111833670-111833671
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	chr3:111832694..111835578-chr3:112096846..112099201,2	MCF-7	breast:
2	chr3:111829764..111831902-chr3:111832844..111835474,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207940	Chromatin interaction
ENSG00000114529	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1492488	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1492490	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16859182	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16859186	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16859188	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16859190	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16859217	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16859220	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16859233	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16859259	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16859261	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs186866	1.00[ASN][1000 genomes]
rs192095	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28722116	1.00[ASN][1000 genomes]
rs340152	1.00[ASN][1000 genomes]
rs340153	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs340155	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs340157	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs340158	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs340171	1.00[ASN][1000 genomes]
rs340173	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs340174	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs340175	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4682083	0.86[ASN][1000 genomes]
rs57344127	1.00[ASN][1000 genomes]
rs59459588	1.00[ASN][1000 genomes]
rs6790318	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6790375	1.00[ASN][1000 genomes]
rs6793177	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6793189	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7617986	1.00[ASN][1000 genomes]
rs7631566	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7649379	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9288936	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9816581	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9822776	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9847052	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9867907	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9874686	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9880044	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755927	chr3:111794310-111834310	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111810400-111852000	Weak transcription	Esophagus	oesophagus
2	chr3:111812000-111844000	Weak transcription	Colonic Mucosa	Colon
3	chr3:111812000-111845600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:111812200-111853000	Weak transcription	Right Ventricle	heart
5	chr3:111812400-111835800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:111812600-111840200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:111814400-111836000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:111819000-111840400	Weak transcription	Fetal Stomach	stomach
9	chr3:111819600-111847800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:111821000-111835800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:111821200-111833800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:111821200-111833800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:111821200-111834000	Weak transcription	HSMM	muscle
14	chr3:111821200-111843600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:111821400-111839000	Weak transcription	Osteobl	bone
16	chr3:111821400-111843600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:111821600-111834800	Weak transcription	HUVEC	blood vessel
18	chr3:111822000-111844600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:111822400-111839200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:111822800-111835600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:111823000-111834400	Weak transcription	A549	lung
22	chr3:111823400-111837800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:111825600-111838600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:111825800-111835400	Weak transcription	Aorta	Aorta
25	chr3:111825800-111835600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:111825800-111844400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:111826000-111833800	Weak transcription	Primary T cells from cord blood	blood
28	chr3:111827000-111838600	Weak transcription	Spleen	Spleen
29	chr3:111828200-111838600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:111828400-111833800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:111828400-111838200	Weak transcription	Stomach Mucosa	stomach
32	chr3:111828600-111835600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr3:111828800-111835600	Weak transcription	Left Ventricle	heart
34	chr3:111829600-111836400	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr3:111830000-111834200	Strong transcription	Pancreas	Pancrea
36	chr3:111830000-111835600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr3:111830000-111837800	Strong transcription	NHEK	skin
38	chr3:111830600-111834000	Enhancers	Fetal Thymus	thymus
39	chr3:111830600-111835600	Enhancers	Thymus	Thymus
40	chr3:111830600-111853200	Weak transcription	Lung	lung
41	chr3:111830800-111834000	Weak transcription	Fetal Heart	heart
42	chr3:111830800-111834600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:111830800-111845400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:111831000-111835800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr3:111831200-111837400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr3:111831200-111838800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr3:111831400-111836200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr3:111831400-111843000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:111832000-111844600	Weak transcription	Hela-S3	cervix
50	chr3:111832400-111835400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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