Variant report

Variant	rs2004039
Chromosome Location	chr15:79071399-79071400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2046144	0.94[ASN][1000 genomes]
rs28580559	0.81[EUR][1000 genomes]
rs4886982	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59709310	0.82[ASN][1000 genomes]
rs62012623	0.88[ASN][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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv977739	chr15:79062099-79080757	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv904432	chr15:79066932-79175813	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79043600-79077800	Weak transcription	Brain Germinal Matrix	brain
2	chr15:79054000-79083200	Weak transcription	Fetal Intestine Small	intestine
3	chr15:79055000-79076400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:79057000-79076400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:79058000-79090000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:79060800-79078600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr15:79061000-79078000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:79061000-79078800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr15:79061000-79078800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr15:79061000-79080000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:79061600-79080400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:79062200-79080200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr15:79063200-79071600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:79063800-79078600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:79064800-79077200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:79067400-79071800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:79068200-79074200	Enhancers	Fetal Muscle Trunk	muscle
18	chr15:79068200-79074200	Enhancers	Right Ventricle	heart
19	chr15:79068400-79072000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:79068600-79074200	Enhancers	Fetal Muscle Leg	muscle
21	chr15:79069000-79080000	Weak transcription	Osteobl	bone
22	chr15:79069200-79090200	Weak transcription	NHDF-Ad	bronchial
23	chr15:79069400-79075600	Enhancers	Fetal Brain Male	brain
24	chr15:79069800-79072800	Enhancers	Placenta	Placenta
25	chr15:79069800-79073800	Enhancers	Fetal Heart	heart
26	chr15:79069800-79074000	Enhancers	Left Ventricle	heart
27	chr15:79070000-79072200	Enhancers	Fetal Lung	lung
28	chr15:79070000-79072200	Enhancers	Lung	lung
29	chr15:79070200-79072000	Enhancers	Brain Hippocampus Middle	brain
30	chr15:79070200-79072200	Enhancers	Brain Cingulate Gyrus	brain
31	chr15:79070200-79072200	Genic enhancers	Fetal Stomach	stomach
32	chr15:79070200-79072400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr15:79070400-79072000	Enhancers	Brain Substantia Nigra	brain
34	chr15:79070600-79071400	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr15:79070600-79071400	Enhancers	Brain Angular Gyrus	brain
36	chr15:79070600-79072000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:79070600-79072000	Enhancers	Colon Smooth Muscle	Colon
38	chr15:79070600-79072200	Enhancers	Adipose Nuclei	Adipose
39	chr15:79070600-79072200	Enhancers	Right Atrium	heart
40	chr15:79070600-79072200	Enhancers	HSMM	muscle
41	chr15:79070600-79074200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:79070800-79071400	Genic enhancers	Fetal Brain Female	brain
43	chr15:79070800-79071800	Weak transcription	Esophagus	oesophagus
44	chr15:79070800-79072200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr15:79070800-79072200	Enhancers	Ovary	ovary
46	chr15:79070800-79072200	Enhancers	Rectal Smooth Muscle	rectum
47	chr15:79070800-79072800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr15:79071000-79071400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:79071000-79071800	Weak transcription	Pancreas	Pancrea
50	chr15:79071000-79072200	Enhancers	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links