Variant report

Variant	rs41508049
Chromosome Location	chr7:121246131-121246132
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121243299..121246166-chr7:121634250..121636757,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10233824	0.86[ASN][1000 genomes]
rs10236326	0.90[ASN][1000 genomes]
rs10261193	0.90[ASN][1000 genomes]
rs12386607	0.87[ASN][1000 genomes]
rs17143567	0.87[ASN][1000 genomes]
rs28581422	0.87[ASN][1000 genomes]
rs28592962	0.86[ASN][1000 genomes]
rs59055243	0.87[ASN][1000 genomes]
rs59585833	0.87[ASN][1000 genomes]
rs73429199	0.87[ASN][1000 genomes]
rs73429200	0.87[ASN][1000 genomes]
rs7795638	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv608333	chr7:121132213-121379616	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2761362	chr7:121172202-121252112	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41508049	HHIP	trans	lymphoblastoid	seeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121242600-121246200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr7:121243000-121246600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:121243600-121246200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:121243600-121246200	Enhancers	Fetal Brain Female	brain
5	chr7:121243600-121247000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:121244000-121246200	Enhancers	Fetal Intestine Small	intestine
7	chr7:121244000-121247400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:121244600-121246200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:121244600-121246400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:121244600-121246800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:121244800-121246200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:121245400-121248800	Weak transcription	HSMM	muscle
13	chr7:121245600-121246200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:121245600-121249000	Weak transcription	Stomach Mucosa	stomach
15	chr7:121245800-121250600	Weak transcription	Fetal Lung	lung
16	chr7:121246000-121247800	Weak transcription	Fetal Brain Male	brain
17	chr7:121246000-121248800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:121246000-121248800	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:121246000-121248800	Weak transcription	Pancreas	Pancrea
20	chr7:121246000-121249000	Weak transcription	NHEK	skin
21	chr7:121246000-121250000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:121246000-121250200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:121246000-121250400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:121246000-121250400	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links