Variant report

Variant	rs16860319
Chromosome Location	chr3:112722263-112722264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112719444..112722309-chr3:112722790..112725279,3	MCF-7	breast:
2	chr3:112706982..112711276-chr3:112721607..112724612,4	K562	blood:
3	chr3:112709776..112713637-chr3:112721607..112724782,4	K562	blood:
4	chr3:112359493..112362150-chr3:112722107..112726538,6	MCF-7	breast:
5	chr3:112715780..112719383-chr3:112720477..112724820,4	MCF-7	breast:
6	chr3:112719705..112722354-chr3:112732625..112735054,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091986	Chromatin interaction
ENSG00000272844	Chromatin interaction
ENSG00000163607	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1054263	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10934212	0.89[EUR][1000 genomes]
rs11916934	1.00[CEU][hapmap]
rs12233476	1.00[CEU][hapmap]
rs12233479	1.00[CEU][hapmap]
rs16860078	1.00[CEU][hapmap]
rs4082660	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55637984	0.92[EUR][1000 genomes]
rs55880301	0.92[EUR][1000 genomes]
rs55892503	0.84[EUR][1000 genomes]
rs6764110	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7628368	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7652466	0.82[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	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	esv1843165	chr3:112628205-112740145	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112710400-112724200	Weak transcription	Small Intestine	intestine
2	chr3:112710400-112737400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:112710600-112723800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:112710600-112725000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:112711400-112736600	Weak transcription	Stomach Mucosa	stomach
6	chr3:112711800-112724000	Weak transcription	NHLF	lung
7	chr3:112712200-112736800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:112712400-112736600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:112712800-112736600	Weak transcription	Fetal Heart	heart
10	chr3:112714400-112736800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:112715000-112735800	Strong transcription	Primary B cells from cord blood	blood
12	chr3:112715200-112736000	Strong transcription	Primary hematopoietic stem cells	blood
13	chr3:112715600-112725800	Strong transcription	Dnd41	blood
14	chr3:112715600-112734600	Strong transcription	Liver	Liver
15	chr3:112715600-112736600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:112715600-112736600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:112715800-112735800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr3:112715800-112736000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:112715800-112736200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:112715800-112736800	Strong transcription	Placenta	Placenta
21	chr3:112716000-112736000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr3:112716000-112736600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr3:112716200-112735800	Strong transcription	A549	lung
24	chr3:112716400-112735600	Strong transcription	Adipose Nuclei	Adipose
25	chr3:112716400-112736400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:112716400-112736400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:112716800-112726400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:112716800-112726800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:112716800-112727000	Strong transcription	Fetal Brain Female	brain
30	chr3:112716800-112729200	Strong transcription	Fetal Lung	lung
31	chr3:112716800-112734400	Strong transcription	GM12878-XiMat	blood
32	chr3:112716800-112735800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:112716800-112736200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr3:112716800-112736400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:112716800-112736400	Strong transcription	NH-A	brain
36	chr3:112716800-112736600	Strong transcription	Osteobl	bone
37	chr3:112716800-112736800	Strong transcription	HSMM	muscle
38	chr3:112717000-112729600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:112717000-112729600	Strong transcription	Fetal Intestine Large	intestine
40	chr3:112717000-112736400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr3:112717200-112728000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:112717200-112736000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:112717200-112736200	Strong transcription	HMEC	breast
44	chr3:112717400-112733200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr3:112718400-112736200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr3:112718600-112722400	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr3:112718600-112722600	Strong transcription	Brain Angular Gyrus	brain
48	chr3:112718600-112726600	Strong transcription	NHDF-Ad	bronchial
49	chr3:112718600-112728000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:112718600-112729400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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