Variant report

Variant	rs60328984
Chromosome Location	chr15:42745133-42745134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42737676..42739406-chr15:42743016..42745729,3	K562	blood:
2	chr15:42726730..42728462-chr15:42744444..42747241,2	K562	blood:

Variant related genes	Relation type
ENSG00000103994	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12101559	0.84[AMR][1000 genomes]
rs12438240	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16973261	0.85[AMR][1000 genomes]
rs2412688	0.83[EUR][1000 genomes]
rs28364393	0.83[EUR][1000 genomes]
rs28745877	1.00[EUR][1000 genomes]
rs3742996	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4923947	0.83[EUR][1000 genomes]
rs4924677	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924679	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924680	0.94[AMR][1000 genomes]
rs4924682	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55671734	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57734638	0.98[AMR][1000 genomes]
rs58567518	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59091866	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59206762	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59414917	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59908459	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60634548	0.83[EUR][1000 genomes]
rs61069354	0.83[EUR][1000 genomes]
rs7169767	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171201	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7180315	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181688	0.85[AMR][1000 genomes]
rs73402745	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73403365	0.83[EUR][1000 genomes]
rs8026817	0.93[AMR][1000 genomes]
rs8036255	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs934876	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42694600-42750600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr15:42700800-42747200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:42701200-42766600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr15:42702200-42750200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr15:42704000-42746800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:42705800-42749200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:42709800-42747000	Weak transcription	Stomach Mucosa	stomach
8	chr15:42711800-42749200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:42720400-42759200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr15:42721800-42747400	Strong transcription	HSMM	muscle
11	chr15:42727400-42745600	Strong transcription	GM12878-XiMat	blood
12	chr15:42730800-42746800	Strong transcription	Hela-S3	cervix
13	chr15:42732400-42746200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:42732600-42746200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:42733000-42745200	Strong transcription	Fetal Stomach	stomach
16	chr15:42733200-42747400	Strong transcription	Placenta	Placenta
17	chr15:42733400-42747000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr15:42733400-42747200	Strong transcription	Primary B cells from cord blood	blood
19	chr15:42733400-42748000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:42737000-42747200	Strong transcription	Osteobl	bone
21	chr15:42737200-42764800	Weak transcription	A549	lung
22	chr15:42738400-42746600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:42738600-42747200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:42740800-42749200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:42741800-42747200	Strong transcription	Fetal Intestine Large	intestine
26	chr15:42742200-42745600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr15:42742400-42746800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr15:42742400-42746800	Weak transcription	Right Atrium	heart
29	chr15:42742600-42749200	Weak transcription	Pancreas	Pancrea
30	chr15:42743200-42750200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr15:42743400-42745800	Strong transcription	HMEC	breast
32	chr15:42743800-42749400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:42744000-42747000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr15:42744000-42747400	Weak transcription	Aorta	Aorta
35	chr15:42744000-42747800	Weak transcription	Psoas Muscle	Psoas
36	chr15:42744000-42748400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:42744000-42749000	Weak transcription	Brain Angular Gyrus	brain
38	chr15:42744000-42749200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:42744000-42749200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr15:42744000-42749200	Weak transcription	Esophagus	oesophagus
41	chr15:42744000-42757400	Weak transcription	Gastric	stomach
42	chr15:42744000-42757600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:42744200-42745400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:42744200-42745400	Weak transcription	Fetal Brain Male	brain
45	chr15:42744200-42745400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr15:42744200-42745600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr15:42744200-42745600	Weak transcription	NHEK	skin
48	chr15:42744200-42746000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr15:42744200-42746200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr15:42744200-42746200	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links