Variant report

Variant	rs35592422
Chromosome Location	chr14:105996593-105996594
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105962853..105964818-chr14:105995187..105997455,2	K562	blood:
2	chr14:105950525..105959761-chr14:105989345..105997494,25	MCF-7	breast:
3	chr14:105863801..105867135-chr14:105995391..105998234,3	K562	blood:
4	chr14:105931323..105933742-chr14:105993820..105997139,3	MCF-7	breast:
5	chr14:105944424..105949494-chr14:105991782..105997266,9	MCF-7	breast:
6	chr14:105950410..105961012-chr14:105989009..105997120,20	MCF-7	breast:
7	chr14:105995043..105996961-chr14:105997844..106000357,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226174	Chromatin interaction
ENSG00000185347	Chromatin interaction
ENSG00000213145	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000257341	Chromatin interaction
ENSG00000182809	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10133083	0.85[EUR][1000 genomes]
rs10136015	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10139300	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10139744	0.86[EUR][1000 genomes]
rs10147392	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10151805	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10152050	0.89[EUR][1000 genomes]
rs11622603	0.84[ASN][1000 genomes]
rs11624007	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11628497	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12100587	0.90[ASN][1000 genomes]
rs12101234	0.88[ASN][1000 genomes]
rs12717698	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12893999	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13379293	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28402171	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28431397	0.86[EUR][1000 genomes]
rs28620005	0.90[ASN][1000 genomes]
rs28662250	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28733392	0.99[EUR][1000 genomes]
rs35240373	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35471125	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35590487	0.96[EUR][1000 genomes]
rs35723046	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35921705	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4074453	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4074937	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4075104	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4075105	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55958808	0.86[EUR][1000 genomes]
rs56057552	0.92[ASN][1000 genomes]
rs56142547	0.81[ASN][1000 genomes]
rs58087925	0.86[EUR][1000 genomes]
rs66710832	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7141834	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7160747	0.89[EUR][1000 genomes]
rs72713323	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73373742	0.89[ASN][1000 genomes]
rs8003942	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8004007	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8005568	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8013055	0.96[EUR][1000 genomes]
rs8013827	0.88[ASN][1000 genomes]
rs8014713	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8014913	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8021330	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105992400-105996800	Enhancers	Fetal Brain Male	brain
2	chr14:105993200-105996600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:105994000-105999400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:105994200-105996600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
5	chr14:105994400-105997000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:105994800-105996800	Bivalent Enhancer	Stomach Mucosa	stomach
7	chr14:105994800-105997000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:105994800-105998800	Weak transcription	HSMMtube	muscle
9	chr14:105994800-105999000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:105994800-106001400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:105995000-105996600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr14:105995200-105996600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr14:105995200-105996800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr14:105995200-105997400	Enhancers	HepG2	liver
15	chr14:105995200-105998800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:105995400-105997600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:105995400-106004200	Weak transcription	Brain Substantia Nigra	brain
18	chr14:105995600-105996800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:105995600-105997000	Enhancers	Ovary	ovary
20	chr14:105995600-105998800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:105995600-105999000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:105995800-105996600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:105995800-105996800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:105995800-105996800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:105995800-105996800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:105995800-105996800	Weak transcription	Brain Anterior Caudate	brain
27	chr14:105995800-105997400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:105996000-105996600	Enhancers	GM12878-XiMat	blood
29	chr14:105996000-105996600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
30	chr14:105996000-105996800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:105996000-105996800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:105996000-105996800	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr14:105996000-105997000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr14:105996000-105997000	Enhancers	Fetal Lung	lung
35	chr14:105996000-105997200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr14:105996000-105997200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr14:105996000-105997200	Enhancers	Gastric	stomach
38	chr14:105996000-105997600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr14:105996000-105998800	Weak transcription	Brain Angular Gyrus	brain
40	chr14:105996000-106000000	Enhancers	Primary B cells from cord blood	blood
41	chr14:105996000-106000000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:105996000-106000200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:105996000-106000200	Enhancers	Primary B cells from peripheral blood	blood
44	chr14:105996000-106004000	Weak transcription	Pancreas	Pancrea
45	chr14:105996200-105996600	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr14:105996200-105996600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:105996200-105996600	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr14:105996200-105996800	Enhancers	Spleen	Spleen
49	chr14:105996200-105997400	Strong transcription	Brain Hippocampus Middle	brain
50	chr14:105996200-105997600	Strong transcription	Brain Cingulate Gyrus	brain

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