Variant report

Variant	rs1290999
Chromosome Location	chr14:69045876-69045877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68924227..68926055-chr14:69043237..69046222,3	MCF-7	breast:
2	chr14:69042594..69046267-chr14:69258129..69261368,4	MCF-7	breast:
3	chr14:69043815..69046176-chr14:69072899..69075411,2	MCF-7	breast:
4	chr14:68932415..68937640-chr14:69040451..69046051,7	MCF-7	breast:
5	chr14:68924906..68927378-chr14:69044527..69046149,2	MCF-7	breast:
6	chr14:69043850..69046166-chr14:69253123..69255175,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1290997	0.84[YRI][hapmap];0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17105837	0.81[MKK][hapmap]
rs4902603	0.80[JPT][hapmap]
rs8009944	0.87[MEX][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	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1290999	MAP3K9	cis	cerebellum	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69036800-69052000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:69037000-69052600	Weak transcription	Colonic Mucosa	Colon
3	chr14:69037400-69054000	Weak transcription	Fetal Kidney	kidney
4	chr14:69041000-69047800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr14:69041000-69048200	Enhancers	Placenta	Placenta
6	chr14:69041200-69048200	Enhancers	HSMMtube	muscle
7	chr14:69041400-69046400	Enhancers	NHDF-Ad	bronchial
8	chr14:69041400-69047200	Enhancers	HSMM	muscle
9	chr14:69041400-69047600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:69041400-69048000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:69041600-69046000	Enhancers	HUVEC	blood vessel
12	chr14:69041600-69046400	Enhancers	NHLF	lung
13	chr14:69041800-69046000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:69041800-69046000	Enhancers	HepG2	liver
15	chr14:69042000-69046000	Weak transcription	Fetal Thymus	thymus
16	chr14:69042000-69050400	Weak transcription	Ovary	ovary
17	chr14:69042000-69052000	Weak transcription	Brain Anterior Caudate	brain
18	chr14:69042200-69047000	Weak transcription	Small Intestine	intestine
19	chr14:69042200-69053800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:69042400-69046400	Weak transcription	Fetal Stomach	stomach
21	chr14:69043000-69046400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr14:69043000-69046600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:69043200-69046200	Enhancers	Fetal Heart	heart
24	chr14:69043400-69046000	Enhancers	A549	lung
25	chr14:69043400-69047200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:69043400-69047400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:69043600-69048200	Enhancers	Fetal Muscle Leg	muscle
28	chr14:69043600-69050200	Weak transcription	Psoas Muscle	Psoas
29	chr14:69043800-69047400	Weak transcription	Colon Smooth Muscle	Colon
30	chr14:69044000-69046000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr14:69044000-69047000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:69044400-69046600	Weak transcription	Lung	lung
33	chr14:69044600-69046400	Weak transcription	NH-A	brain
34	chr14:69044600-69047200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:69044600-69051400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:69044600-69052200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:69044800-69046800	Weak transcription	Fetal Intestine Small	intestine
38	chr14:69044800-69047200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:69044800-69047200	Weak transcription	Fetal Lung	lung
40	chr14:69045000-69050200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr14:69045000-69050200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr14:69045000-69053200	Weak transcription	Gastric	stomach
43	chr14:69045200-69046200	Weak transcription	Primary B cells from cord blood	blood
44	chr14:69045200-69046200	Enhancers	Hela-S3	cervix
45	chr14:69045200-69047400	Enhancers	Pancreas	Pancrea
46	chr14:69045200-69048200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr14:69045200-69052200	Weak transcription	Stomach Mucosa	stomach
48	chr14:69045400-69047400	Enhancers	Spleen	Spleen
49	chr14:69045600-69046400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:69045600-69047000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links