Variant report

Variant	rs12438333
Chromosome Location	chr15:75068189-75068190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75067632..75072081-chr15:75073195..75075797,6	MCF-7	breast:
2	chr15:75062956..75068550-chr15:75133333..75136759,7	MCF-7	breast:
3	chr15:74923278..74925210-chr15:75067410..75069276,2	K562	blood:
4	chr15:75066889..75068448-chr15:75124429..75127236,2	MCF-7	breast:
5	chr15:75065072..75069457-chr15:75091713..75095477,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140474	Chromatin interaction
ENSG00000103653	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12439525	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[EUR][1000 genomes]
rs1531162	1.00[CEU][hapmap]
rs1531163	1.00[CEU][hapmap]
rs2229730	1.00[CEU][hapmap]
rs2305667	0.82[CEU][hapmap]
rs28397782	1.00[CEU][hapmap]
rs2899827	1.00[CEU][hapmap]
rs3743486	1.00[CEU][hapmap]
rs3743487	1.00[CEU][hapmap]
rs3803568	1.00[CEU][hapmap]
rs4886409	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4886620	1.00[CEU][hapmap]
rs4886627	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61164848	0.82[AMR][1000 genomes]
rs7165811	1.00[CEU][hapmap]
rs8039046	1.00[CEU][hapmap]

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	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv833055	chr15:74988344-75166288	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75056000-75069000	Weak transcription	Lung	lung
2	chr15:75061400-75069000	Weak transcription	Liver	Liver
3	chr15:75062800-75069200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr15:75063200-75069400	Enhancers	Primary B cells from peripheral blood	blood
5	chr15:75063200-75069400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr15:75063400-75069400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr15:75063600-75069000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr15:75063800-75069000	Weak transcription	Fetal Heart	heart
9	chr15:75063800-75069000	Weak transcription	Right Atrium	heart
10	chr15:75064000-75069400	Weak transcription	Fetal Brain Male	brain
11	chr15:75064400-75069000	Weak transcription	HUVEC	blood vessel
12	chr15:75064400-75069400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:75064400-75069400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:75064400-75069400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:75064600-75068200	Weak transcription	Dnd41	blood
16	chr15:75064600-75069200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:75065400-75069000	Weak transcription	Brain Substantia Nigra	brain
18	chr15:75065400-75069200	Enhancers	Primary T cells from cord blood	blood
19	chr15:75065400-75069200	Enhancers	Duodenum Mucosa	Duodenum
20	chr15:75065600-75069000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr15:75065600-75069200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr15:75065600-75072600	Enhancers	Primary hematopoietic stem cells	blood
23	chr15:75065600-75073200	Weak transcription	Brain Angular Gyrus	brain
24	chr15:75065600-75073600	Enhancers	Fetal Intestine Large	intestine
25	chr15:75065600-75073600	Enhancers	Fetal Intestine Small	intestine
26	chr15:75065800-75068200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr15:75065800-75069200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:75065800-75069400	Enhancers	Fetal Thymus	thymus
29	chr15:75065800-75072800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr15:75066200-75069000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:75066200-75069200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr15:75066200-75069400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:75066200-75069400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:75066200-75073000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:75066400-75069000	Enhancers	HepG2	liver
36	chr15:75066400-75069200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr15:75066400-75069200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:75066400-75069400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr15:75066400-75069400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr15:75066400-75069600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr15:75066400-75069800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr15:75066400-75072400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr15:75066400-75072800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:75066600-75069200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr15:75066600-75070000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr15:75066600-75072600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:75066800-75068800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:75066800-75069000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:75066800-75069000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:75066800-75069200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links