Variant report

Variant	rs8042413
Chromosome Location	chr15:40252051-40252052
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	chr15:40244109..40246944-chr15:40248464..40252710,3	MCF-7	breast:
2	chr15:40251187..40253303-chr15:40260460..40262818,2	K562	blood:

Variant related genes	Relation type
ENSG00000128829	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12050584	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2412455	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2412461	1.00[AMR][1000 genomes]
rs2640644	1.00[AMR][1000 genomes]
rs2898983	1.00[AMR][1000 genomes]
rs2917838	1.00[AMR][1000 genomes]
rs2934195	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs472530	1.00[AMR][1000 genomes]
rs503775	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs508280	1.00[AMR][1000 genomes]
rs509966	1.00[AMR][1000 genomes]
rs514394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs535400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs544070	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs571256	1.00[AMR][1000 genomes]
rs578429	1.00[AMR][1000 genomes]
rs581167	1.00[AMR][1000 genomes]
rs7165452	1.00[AMR][1000 genomes]
rs7173708	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7174071	1.00[YRI][hapmap]
rs7174465	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8039846	1.00[AFR][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40227200-40268400	Weak transcription	Esophagus	oesophagus
2	chr15:40227400-40283400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:40227800-40268400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:40230000-40263000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr15:40230200-40255600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr15:40230400-40261600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:40230600-40252400	Weak transcription	Right Atrium	heart
9	chr15:40231000-40268400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr15:40231800-40252600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:40232000-40261400	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr15:40232000-40262600	Strong transcription	Liver	Liver
13	chr15:40232200-40252400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr15:40232400-40252400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr15:40235000-40263000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:40236000-40255400	Strong transcription	Fetal Lung	lung
17	chr15:40236000-40260000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr15:40236600-40303000	Weak transcription	Small Intestine	intestine
19	chr15:40237800-40255600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr15:40238000-40277800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:40238600-40268200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr15:40238600-40272200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:40238800-40273200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:40239200-40259600	Weak transcription	Fetal Brain Male	brain
25	chr15:40239400-40261200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:40239400-40262000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:40239600-40261400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:40239800-40262200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr15:40240200-40261000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:40240800-40268000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:40241000-40252400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:40241000-40252400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:40241000-40268600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr15:40241200-40272600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:40241400-40256000	Strong transcription	Primary T cells from cord blood	blood
36	chr15:40241400-40260800	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr15:40241400-40262800	Strong transcription	Fetal Intestine Large	intestine
38	chr15:40241800-40259800	Weak transcription	Stomach Mucosa	stomach
39	chr15:40242400-40252800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:40242600-40255600	Strong transcription	Fetal Muscle Leg	muscle
41	chr15:40243200-40254800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:40243200-40262600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr15:40243400-40252400	Strong transcription	HUVEC	blood vessel
44	chr15:40243800-40252800	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr15:40245000-40255000	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr15:40245200-40256200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr15:40245600-40252200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr15:40245600-40252600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:40245600-40255400	Strong transcription	Brain Hippocampus Middle	brain
50	chr15:40245600-40256400	Strong transcription	Primary hematopoietic stem cells	blood

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