Variant report

Variant	rs1139310
Chromosome Location	chr15:43489102-43489103
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43476228..43478017-chr15:43486633..43489547,2	K562	blood:
2	chr15:43487978..43489600-chr15:43491317..43494158,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166946	Chromatin interaction
ENSG00000261687	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12905772	0.87[YRI][hapmap]
rs1554422	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16957464	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16957485	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16957641	1.00[AMR][1000 genomes]
rs2012688	1.00[AMR][1000 genomes]
rs2162367	1.00[AFR][1000 genomes]
rs2278857	0.85[YRI][hapmap]
rs4296223	0.85[YRI][hapmap]
rs4547312	0.85[YRI][hapmap]
rs7163288	0.85[YRI][hapmap]

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	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43478600-43489600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:43478600-43496200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:43478800-43494000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:43480200-43489800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:43480200-43490000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:43480200-43490000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr15:43480200-43490000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr15:43480200-43490400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:43480400-43489800	Strong transcription	Placenta	Placenta
10	chr15:43480400-43490200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:43480400-43491200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:43480400-43491400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr15:43480600-43489800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
14	chr15:43480600-43490400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr15:43480800-43489200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:43480800-43489800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:43480800-43490200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr15:43480800-43491400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr15:43481000-43490400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:43481000-43490600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr15:43481200-43489800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:43481200-43490000	Strong transcription	Thymus	Thymus
23	chr15:43481400-43489800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:43481400-43489800	Strong transcription	Fetal Thymus	thymus
25	chr15:43481400-43489800	Strong transcription	HSMM	muscle
26	chr15:43481400-43490000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:43481400-43490000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:43481400-43490000	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr15:43481400-43490400	Strong transcription	Brain Anterior Caudate	brain
30	chr15:43481400-43490400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr15:43481400-43490600	Strong transcription	Primary B cells from cord blood	blood
32	chr15:43481400-43491000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr15:43481600-43489800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:43481600-43490000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:43481600-43490400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:43481600-43490400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:43481800-43489800	Strong transcription	Brain Substantia Nigra	brain
38	chr15:43481800-43490400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr15:43481800-43490600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr15:43482000-43490400	Strong transcription	GM12878-XiMat	blood
41	chr15:43482200-43489800	Strong transcription	Colon Smooth Muscle	Colon
42	chr15:43482200-43490000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr15:43482200-43490600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr15:43482600-43489800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr15:43482600-43490400	Strong transcription	Liver	Liver
46	chr15:43482600-43490600	Strong transcription	Adipose Nuclei	Adipose
47	chr15:43482800-43496400	Weak transcription	A549	lung
48	chr15:43484000-43489200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:43484400-43491000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:43485000-43490200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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