Variant report

Variant	rs74014714
Chromosome Location	chr15:41232537-41232538
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41231280..41234394-chr15:41292861..41295820,3	K562	blood:
2	chr15:41232489..41235569-chr15:41253295..41255593,3	MCF-7	breast:
3	chr15:41210690..41212300-chr15:41230251..41232745,2	MCF-7	breast:
4	chr15:41130611..41132488-chr15:41231249..41233161,2	K562	blood:
5	chr15:40886274..40887836-chr15:41232537..41234993,2	K562	blood:
6	chr15:41206994..41209856-chr15:41231483..41234125,2	MCF-7	breast:
7	chr15:41230478..41233329-chr15:41297882..41299703,2	MCF-7	breast:
8	chr15:41201322..41202834-chr15:41232432..41234012,2	MCF-7	breast:
9	chr15:41195653..41200412-chr15:41230792..41235632,4	MCF-7	breast:
10	chr15:41231312..41233017-chr15:41292337..41294409,2	MCF-7	breast:
11	chr15:41216351..41218911-chr15:41231824..41234826,3	MCF-7	breast:
12	chr15:41231034..41235223-chr15:41248876..41252149,4	MCF-7	breast:
13	chr15:41232446..41235218-chr15:41255104..41257063,2	K562	blood:
14	chr15:41231932..41234904-chr15:41266157..41268211,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251161	Chromatin interaction
ENSG00000137812	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12385938	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16971238	0.91[EUR][1000 genomes]
rs1814569	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2277538	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412576	0.83[ASN][1000 genomes]
rs2412578	0.88[ASN][1000 genomes]
rs3887640	0.83[ASN][1000 genomes]
rs59051743	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61173616	0.82[EUR][1000 genomes]
rs7180318	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73402541	0.91[EUR][1000 genomes]
rs8030137	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	esv1819792	chr15:41184722-41234825	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv904106	chr15:41221067-41259523	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 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	chr15:41225000-41233600	Weak transcription	Esophagus	oesophagus
2	chr15:41226000-41232600	Weak transcription	Brain Angular Gyrus	brain
3	chr15:41226000-41233000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:41226000-41233400	Weak transcription	Thymus	Thymus
5	chr15:41227800-41233600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:41228000-41233200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr15:41228600-41233600	Enhancers	Fetal Thymus	thymus
8	chr15:41229200-41232600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:41229600-41233400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr15:41230000-41232600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:41230000-41232600	Weak transcription	HSMM	muscle
12	chr15:41230000-41232800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:41230000-41233000	Weak transcription	HSMMtube	muscle
14	chr15:41230000-41233400	Weak transcription	Osteobl	bone
15	chr15:41230200-41233200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr15:41230200-41233200	Weak transcription	Stomach Mucosa	stomach
17	chr15:41230400-41233400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:41230600-41233200	Weak transcription	Fetal Heart	heart
19	chr15:41230600-41233800	Enhancers	Spleen	Spleen
20	chr15:41230800-41233000	Weak transcription	Liver	Liver
21	chr15:41230800-41233000	Weak transcription	A549	lung
22	chr15:41230800-41233600	Weak transcription	Psoas Muscle	Psoas
23	chr15:41230800-41233800	Weak transcription	Gastric	stomach
24	chr15:41231000-41232600	Weak transcription	Right Atrium	heart
25	chr15:41231000-41233400	Enhancers	Fetal Muscle Trunk	muscle
26	chr15:41231200-41232800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr15:41231400-41232600	Enhancers	HUVEC	blood vessel
28	chr15:41231600-41232600	Weak transcription	Left Ventricle	heart
29	chr15:41232000-41232600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr15:41232000-41232600	Enhancers	Stomach Smooth Muscle	stomach
31	chr15:41232000-41232800	Enhancers	Primary hematopoietic stem cells	blood
32	chr15:41232000-41233000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:41232000-41233400	Genic enhancers	Fetal Intestine Small	intestine
34	chr15:41232000-41233400	Enhancers	Fetal Muscle Leg	muscle
35	chr15:41232000-41233600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:41232000-41233800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr15:41232000-41234000	Enhancers	Primary B cells from peripheral blood	blood
38	chr15:41232000-41234000	Enhancers	Fetal Kidney	kidney
39	chr15:41232000-41234000	Flanking Active TSS	GM12878-XiMat	blood
40	chr15:41232200-41232600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr15:41232200-41232800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:41232200-41232800	Weak transcription	Colon Smooth Muscle	Colon
43	chr15:41232200-41232800	Enhancers	Fetal Stomach	stomach
44	chr15:41232200-41233000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
45	chr15:41232200-41233000	Enhancers	Lung	lung
46	chr15:41232200-41233000	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr15:41232200-41233200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
48	chr15:41232200-41233200	Enhancers	Duodenum Mucosa	Duodenum
49	chr15:41232200-41233400	Enhancers	Brain Cingulate Gyrus	brain
50	chr15:41232200-41233400	Enhancers	Right Ventricle	heart

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