Variant report

Variant	rs16860716
Chromosome Location	chr3:112974370-112974371
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112929933..112932828-chr3:112972160..112974860,2	MCF-7	breast:
2	chr3:112854746..112855542-chr3:112974048..112975014,2	MCF-7	breast:
3	chr3:112973746..112975579-chr3:112978657..112981572,2	K562	blood:

Variant related genes	Relation type
ENSG00000144857	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11917869	1.00[AMR][1000 genomes]
rs11919091	1.00[AMR][1000 genomes]
rs11920233	1.00[AMR][1000 genomes]
rs11922003	1.00[AMR][1000 genomes]
rs11925633	1.00[AMR][1000 genomes]
rs11926656	1.00[AMR][1000 genomes]
rs11929188	1.00[AMR][1000 genomes]
rs16860384	1.00[AMR][1000 genomes]
rs16860386	1.00[AMR][1000 genomes]
rs16860700	1.00[AMR][1000 genomes]
rs16860732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860752	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860782	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16860800	1.00[AMR][1000 genomes]
rs16860854	1.00[AMR][1000 genomes]
rs16860875	1.00[AMR][1000 genomes]
rs4082653	1.00[AMR][1000 genomes]
rs7430385	1.00[AMR][1000 genomes]
rs7651839	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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112961600-112983000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:112968600-112980000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:112969000-112995200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:112969600-112981000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:112969800-112991800	Weak transcription	Right Ventricle	heart
6	chr3:112969800-112994200	Weak transcription	Spleen	Spleen
7	chr3:112970200-112981000	Weak transcription	Gastric	stomach
8	chr3:112970200-112981000	Weak transcription	Pancreas	Pancrea
9	chr3:112971200-112975400	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr3:112971200-112978200	Genic enhancers	Fetal Muscle Leg	muscle
11	chr3:112971400-112974800	Genic enhancers	Fetal Stomach	stomach
12	chr3:112971600-112974600	Enhancers	Rectal Smooth Muscle	rectum
13	chr3:112971800-112986400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:112972000-112980600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:112972400-112974400	Enhancers	Primary B cells from peripheral blood	blood
16	chr3:112972400-112974600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr3:112972400-112986400	Weak transcription	Fetal Intestine Small	intestine
18	chr3:112972600-112974400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr3:112972600-112974400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:112972600-112974600	Enhancers	NHDF-Ad	bronchial
21	chr3:112972600-112974800	Enhancers	Brain Hippocampus Middle	brain
22	chr3:112972600-112975200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:112972600-112975600	Enhancers	HSMM	muscle
24	chr3:112972800-112976400	Enhancers	HSMMtube	muscle
25	chr3:112973200-112974800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:112973200-112975200	Enhancers	GM12878-XiMat	blood
27	chr3:112973400-112974800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:112973400-112976400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:112973400-112981800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:112973400-112982600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:112973400-112987600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:112973600-112974600	Enhancers	Brain Anterior Caudate	brain
33	chr3:112973600-112974800	Weak transcription	Brain Substantia Nigra	brain
34	chr3:112973600-112977000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:112973600-112978600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:112973600-112978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:112973600-112980400	Weak transcription	Brain Germinal Matrix	brain
38	chr3:112973600-112980400	Weak transcription	Fetal Kidney	kidney
39	chr3:112973600-112982000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr3:112973600-112983600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:112973600-112993000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:112973600-112997200	Weak transcription	Colonic Mucosa	Colon
43	chr3:112973800-112974600	Genic enhancers	Stomach Smooth Muscle	stomach
44	chr3:112973800-112975200	Weak transcription	Left Ventricle	heart
45	chr3:112973800-112977800	Weak transcription	Adipose Nuclei	Adipose
46	chr3:112973800-112977800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr3:112973800-112978600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:112973800-112979400	Weak transcription	Aorta	Aorta
49	chr3:112973800-112979400	Weak transcription	Esophagus	oesophagus
50	chr3:112973800-112981200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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