Variant report

Variant	rs12091598
Chromosome Location	chr1:67400801-67400802
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67396042..67397718-chr1:67399793..67402319,2	MCF-7	breast:
2	chr1:67399557..67401552-chr1:67894060..67896636,2	K562	blood:
3	chr1:67399843..67402374-chr1:67423156..67425714,2	K562	blood:
4	chr1:65634867..65636428-chr1:67400742..67403571,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198160	Chromatin interaction
ENSG00000142864	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11208970	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11208975	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12061039	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12069845	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12083687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090768	0.91[AMR][1000 genomes]
rs17097309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2104414	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7528178	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9660023	0.81[AMR][1000 genomes]

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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv871720	chr1:67357596-67435161	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67395000-67401400	Active TSS	K562	blood
2	chr1:67395400-67401000	Active TSS	A549	lung
3	chr1:67396600-67416600	Weak transcription	Spleen	Spleen
4	chr1:67396800-67403000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:67396800-67403000	Weak transcription	Gastric	stomach
6	chr1:67396800-67411200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:67396800-67414400	Weak transcription	Lung	lung
8	chr1:67396800-67429800	Weak transcription	Pancreas	Pancrea
9	chr1:67396800-67458200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:67396800-67459000	Weak transcription	Esophagus	oesophagus
11	chr1:67397000-67408000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:67397000-67409200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:67397600-67401400	Enhancers	Brain Anterior Caudate	brain
14	chr1:67397600-67411000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:67397600-67411200	Weak transcription	Placenta	Placenta
16	chr1:67397600-67411200	Weak transcription	Fetal Stomach	stomach
17	chr1:67397600-67413000	Weak transcription	Fetal Brain Female	brain
18	chr1:67397600-67413000	Weak transcription	Fetal Kidney	kidney
19	chr1:67397600-67416600	Weak transcription	Right Ventricle	heart
20	chr1:67397600-67424400	Weak transcription	Colonic Mucosa	Colon
21	chr1:67397600-67457600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:67397800-67401600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:67397800-67401600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr1:67397800-67404200	Weak transcription	Fetal Intestine Large	intestine
25	chr1:67397800-67412400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:67397800-67412400	Weak transcription	Brain Germinal Matrix	brain
27	chr1:67398400-67412200	Weak transcription	Fetal Brain Male	brain
28	chr1:67398400-67414000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:67398600-67406400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:67398600-67411000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:67399000-67416400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:67399200-67406400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:67399600-67401600	Active TSS	GM12878-XiMat	blood
34	chr1:67399600-67407400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:67399800-67402800	Weak transcription	Fetal Intestine Small	intestine
36	chr1:67399800-67403200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:67399800-67409200	Weak transcription	Fetal Heart	heart
38	chr1:67399800-67411200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:67400000-67401000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:67400000-67401400	Enhancers	HepG2	liver
41	chr1:67400000-67403600	Weak transcription	NH-A	brain
42	chr1:67400000-67403600	Weak transcription	NHDF-Ad	bronchial
43	chr1:67400000-67405200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:67400000-67408000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:67400000-67411200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:67400200-67401000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:67400200-67401400	Enhancers	Osteobl	bone
48	chr1:67400200-67401600	Enhancers	Primary T cells from cord blood	blood
49	chr1:67400200-67403600	Weak transcription	Primary B cells from cord blood	blood
50	chr1:67400200-67406200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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