Variant report

Variant	rs11634736
Chromosome Location	chr15:41242529-41242530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr15:41242377-41242564	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41219948..41223850-chr15:41241031..41249080,13	K562	blood:
2	chr15:41242010..41243901-chr15:41308685..41310962,2	MCF-7	breast:
3	chr15:41241650..41243444-chr15:41244246..41246141,3	MCF-7	breast:

Variant related genes	Relation type
ISCA1P4	TF binding region
CHAC1	TF binding region
ENSG00000128917	Chromatin interaction
ENSG00000128965	Chromatin interaction
ENSG00000259521	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11070312	0.92[ASN][1000 genomes]
rs11557249	0.92[EUR][1000 genomes]
rs11632640	0.93[ASN][1000 genomes]
rs11853377	0.92[EUR][1000 genomes]
rs11854054	0.90[EUR][1000 genomes]
rs11857572	0.89[EUR][1000 genomes]
rs28575174	0.91[EUR][1000 genomes]
rs4924519	0.85[ASN][1000 genomes]
rs7175269	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs745299	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
5	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11634736	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41235400-41244600	Weak transcription	NHLF	lung
2	chr15:41235800-41244800	Weak transcription	Esophagus	oesophagus
3	chr15:41236200-41244600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:41238600-41244400	Weak transcription	GM12878-XiMat	blood
5	chr15:41240800-41242600	Enhancers	K562	blood
6	chr15:41241200-41244000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:41241200-41244200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr15:41241400-41242600	Enhancers	Fetal Intestine Small	intestine
9	chr15:41241400-41242600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr15:41241400-41243000	Enhancers	Liver	Liver
11	chr15:41241400-41244400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:41241400-41244600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr15:41241600-41242600	Enhancers	Fetal Intestine Large	intestine
14	chr15:41241600-41244400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:41241600-41244400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:41241800-41244400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:41241800-41244600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr15:41241800-41244600	Weak transcription	Fetal Thymus	thymus
19	chr15:41241800-41244600	Weak transcription	Gastric	stomach
20	chr15:41242000-41244200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:41242000-41244400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr15:41242000-41244400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:41242000-41244400	Weak transcription	Colonic Mucosa	Colon
24	chr15:41242000-41244400	Weak transcription	Pancreas	Pancrea
25	chr15:41242000-41244400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr15:41242000-41244600	Weak transcription	Left Ventricle	heart
27	chr15:41242200-41244000	Weak transcription	Stomach Mucosa	stomach
28	chr15:41242200-41244400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:41242200-41244400	Weak transcription	Lung	lung
30	chr15:41242200-41244400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr15:41242200-41244600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr15:41242200-41244600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:41242400-41243800	Weak transcription	Hela-S3	cervix
34	chr15:41242400-41244200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:41242400-41244200	Weak transcription	NHEK	skin
36	chr15:41242400-41244400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr15:41242400-41244400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr15:41242400-41244400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr15:41242400-41244600	Weak transcription	Adipose Nuclei	Adipose
40	chr15:41242400-41244600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:41242400-41244800	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links