Variant report

Variant	rs9888604
Chromosome Location	chr14:69473296-69473297
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69442323..69443910-chr14:69472341..69473881,2	MCF-7	breast:
2	chr14:69378536..69380644-chr14:69471765..69473776,2	MCF-7	breast:
3	chr14:69468155..69470465-chr14:69471186..69473810,2	MCF-7	breast:
4	chr14:69471670..69474001-chr14:69555320..69558312,2	MCF-7	breast:
5	chr14:69472049..69474054-chr14:69481057..69482617,2	MCF-7	breast:
6	chr14:69469601..69471600-chr14:69472625..69475481,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12147311	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17106677	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs242100	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs433410	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs446091	0.87[ASN][1000 genomes]
rs453413	0.87[ASN][1000 genomes]
rs4902664	1.00[CHB][hapmap]
rs7151159	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs72718222	0.87[ASN][1000 genomes]
rs72718228	0.86[ASN][1000 genomes]
rs761896	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]

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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9888604	SPTB	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69471000-69473400	Enhancers	Fetal Muscle Trunk	muscle
2	chr14:69471000-69473600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:69471200-69473800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:69471200-69473800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:69471600-69473400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:69472400-69473400	Enhancers	K562	blood
7	chr14:69472400-69475800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr14:69472400-69480400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:69472600-69473400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:69472600-69475400	Weak transcription	Stomach Mucosa	stomach
11	chr14:69472600-69475600	Weak transcription	Placenta	Placenta
12	chr14:69472800-69474600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:69472800-69474800	Weak transcription	Fetal Muscle Leg	muscle
14	chr14:69472800-69475200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:69472800-69475200	Weak transcription	Colon Smooth Muscle	Colon
16	chr14:69472800-69477200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:69472800-69480800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:69472800-69481000	Weak transcription	Esophagus	oesophagus
19	chr14:69473000-69474000	Enhancers	HepG2	liver
20	chr14:69473000-69475000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:69473000-69475000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:69473000-69475200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:69473000-69475200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:69473000-69475200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:69473000-69475200	Weak transcription	Adipose Nuclei	Adipose
26	chr14:69473000-69475200	Weak transcription	HSMMtube	muscle
27	chr14:69473000-69475400	Weak transcription	NH-A	brain
28	chr14:69473000-69476800	Weak transcription	Hela-S3	cervix
29	chr14:69473000-69477200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:69473000-69477200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:69473000-69479600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:69473000-69479600	Weak transcription	NHLF	lung
33	chr14:69473000-69480600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:69473000-69480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr14:69473000-69480600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:69473000-69482600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:69473000-69503600	Weak transcription	Right Atrium	heart
38	chr14:69473200-69473600	Weak transcription	A549	lung
39	chr14:69473200-69475000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:69473200-69475000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:69473200-69475200	Weak transcription	Aorta	Aorta
42	chr14:69473200-69475200	Weak transcription	Osteobl	bone
43	chr14:69473200-69475400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:69473200-69477400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:69473200-69480400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:69473200-69480400	Weak transcription	HUVEC	blood vessel
47	chr14:69473200-69480800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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