Variant report

Variant	rs1655558
Chromosome Location	chr15:41787585-41787586
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41783642..41785495-chr15:41786905..41788686,2	K562	blood:
2	chr15:41786611..41788959-chr15:41795033..41798597,3	MCF-7	breast:
3	chr15:41767730..41772843-chr15:41782564..41789351,11	K562	blood:
4	chr15:41777763..41779575-chr15:41786284..41787961,2	MCF-7	breast:
5	chr15:41786578..41789073-chr15:41951782..41954214,2	K562	blood:
6	chr15:41693279..41695491-chr15:41786361..41789615,3	K562	blood:
7	chr15:41784400..41789772-chr15:41847283..41854059,7	K562	blood:
8	chr15:41741913..41744692-chr15:41786667..41789132,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000092445	Chromatin interaction
ENSG00000137815	Chromatin interaction
ENSG00000174197	Chromatin interaction
ENSG00000259838	Chromatin interaction
ENSG00000137806	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12440045	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1942	0.86[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	nsv524476	chr15:41689232-41820200	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv904110	chr15:41776692-41813279	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv904111	chr15:41777898-41805115	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv471241	chr15:41783814-41820200	Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv569233	chr15:41784809-41805237	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv33378	chr15:41786505-41805760	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1655558	KRTAP4-7	Cis_1M	lymphoblastoid	RTeQTL
rs1655558	LOC729082	Cis_1M	lymphoblastoid	RTeQTL
rs1655558	RTF1	cis	Thyroid	GTEx
rs1655558	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs1655558	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs1655558	NDUFAF1	cis	Muscle Skeletal	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41785000-41788800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr15:41785200-41788200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:41785200-41788200	Active TSS	Right Atrium	heart
4	chr15:41785200-41788400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr15:41785200-41788400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:41785200-41788600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr15:41785200-41788600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr15:41785200-41788600	Active TSS	HepG2	liver
9	chr15:41785200-41789000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:41785400-41788600	Active TSS	Brain Angular Gyrus	brain
11	chr15:41785400-41789200	Active TSS	Brain Anterior Caudate	brain
12	chr15:41785400-41789400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr15:41785600-41788600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr15:41785800-41788600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr15:41786000-41787600	Enhancers	Liver	Liver
16	chr15:41786200-41787800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:41786200-41787800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:41786200-41788000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:41786200-41788000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
20	chr15:41786200-41788200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:41786200-41788200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:41786400-41787600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
23	chr15:41786400-41787800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:41786400-41787800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:41786400-41787800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:41786400-41787800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:41786400-41787800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:41786400-41787800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
29	chr15:41786400-41787800	Flanking Active TSS	Right Ventricle	heart
30	chr15:41786400-41788000	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr15:41786400-41788000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
32	chr15:41786400-41788000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
33	chr15:41786400-41788000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
34	chr15:41786400-41788000	Bivalent Enhancer	Fetal Brain Male	brain
35	chr15:41786400-41788000	Enhancers	Fetal Heart	heart
36	chr15:41786400-41788000	Flanking Bivalent TSS/Enh	NHEK	skin
37	chr15:41786400-41788200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
38	chr15:41786400-41788200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:41786400-41788200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
40	chr15:41786400-41788400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
41	chr15:41786400-41788400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
42	chr15:41786400-41788600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr15:41786600-41787800	Enhancers	Pancreas	Pancrea
44	chr15:41786600-41787800	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
45	chr15:41786600-41788200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
46	chr15:41786600-41788400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
47	chr15:41786600-41788400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
48	chr15:41786600-41788600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:41786600-41788600	Enhancers	Lung	lung
50	chr15:41786800-41787800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell

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