Variant report

Variant	rs66994542
Chromosome Location	chr15:100015834-100015835
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:99969769..99972522-chr15:100015171..100016752,2	MCF-7	breast:
2	chr15:100010923..100013098-chr15:100015221..100016776,2	MCF-7	breast:
3	chr15:99991338..99992840-chr15:100014340..100017006,2	MCF-7	breast:
4	chr15:100013320..100017207-chr15:100104527..100106980,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000068305	Chromatin interaction
ENSG00000259341	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12592753	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12594174	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12595336	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12901856	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12902817	0.84[EUR][1000 genomes]
rs12907047	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12907380	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12911709	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12915746	0.89[EUR][1000 genomes]
rs1992485	0.89[EUR][1000 genomes]
rs28538977	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28615486	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34833026	0.87[EUR][1000 genomes]
rs4965248	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4965249	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4965510	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4965511	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4965512	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6598253	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71399871	0.86[EUR][1000 genomes]
rs7165608	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7165832	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7182803	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7182877	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7182883	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8024609	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8027441	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9783690	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv1050527	chr15:99983054-100035436	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv17862	chr15:100015641-100016286	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100008200-100020600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:100008400-100016600	Weak transcription	Hela-S3	cervix
3	chr15:100012400-100018200	Enhancers	Stomach Mucosa	stomach
4	chr15:100012400-100018600	Enhancers	Spleen	Spleen
5	chr15:100012400-100018800	Enhancers	Right Atrium	heart
6	chr15:100012600-100016000	Weak transcription	Small Intestine	intestine
7	chr15:100012600-100018600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr15:100012600-100019000	Enhancers	Fetal Heart	heart
9	chr15:100012800-100016200	Weak transcription	NH-A	brain
10	chr15:100012800-100018800	Enhancers	Fetal Lung	lung
11	chr15:100013000-100018600	Enhancers	Right Ventricle	heart
12	chr15:100013000-100018800	Enhancers	Fetal Muscle Trunk	muscle
13	chr15:100013000-100019400	Enhancers	Fetal Thymus	thymus
14	chr15:100013200-100019000	Enhancers	Fetal Muscle Leg	muscle
15	chr15:100013600-100016600	Enhancers	Stomach Smooth Muscle	stomach
16	chr15:100013600-100018400	Enhancers	Placenta	Placenta
17	chr15:100013600-100018400	Enhancers	Lung	lung
18	chr15:100013800-100016800	Enhancers	Adipose Nuclei	Adipose
19	chr15:100013800-100017000	Weak transcription	Gastric	stomach
20	chr15:100013800-100018200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:100013800-100018200	Enhancers	HMEC	breast
22	chr15:100014000-100016000	Weak transcription	Thymus	Thymus
23	chr15:100014000-100017000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr15:100014000-100017000	Enhancers	HSMM	muscle
25	chr15:100014000-100018600	Enhancers	HSMMtube	muscle
26	chr15:100014000-100019200	Enhancers	Fetal Stomach	stomach
27	chr15:100014200-100016000	Enhancers	Psoas Muscle	Psoas
28	chr15:100014200-100016800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:100014400-100016400	Enhancers	Esophagus	oesophagus
30	chr15:100014400-100016800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:100014400-100017000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:100014400-100017000	Enhancers	NHLF	lung
33	chr15:100014600-100016400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr15:100014600-100017400	Enhancers	Colonic Mucosa	Colon
35	chr15:100014800-100016200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:100014800-100016200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:100014800-100016600	Weak transcription	GM12878-XiMat	blood
38	chr15:100014800-100016800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr15:100014800-100018800	Enhancers	Left Ventricle	heart
40	chr15:100014800-100020200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr15:100014800-100026800	Weak transcription	Aorta	Aorta
42	chr15:100015000-100016200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:100015200-100016000	Enhancers	Pancreas	Pancrea
44	chr15:100015200-100017400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr15:100015200-100017600	Weak transcription	Fetal Kidney	kidney
46	chr15:100015200-100018600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:100015400-100016600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:100015400-100016600	Enhancers	HepG2	liver
49	chr15:100015400-100016800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr15:100015400-100016800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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