Variant report

Variant	rs2300012
Chromosome Location	chr7:107933687-107933688
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107902658..107904390-chr7:107932763..107934813,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12705448	0.84[CEU][hapmap]
rs2072546	0.82[MEX][hapmap]
rs4142283	0.89[CEU][hapmap]
rs4727703	0.84[CEU][hapmap]

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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1030425	chr7:107910716-108041036	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2300012	CDHR3	cis	parietal	SCAN
rs2300012	DNAJB9	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107918400-107935000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:107924200-107939600	Weak transcription	Pancreas	Pancrea
3	chr7:107925400-107952000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:107925800-107937400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:107927200-107935000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:107927200-107935200	Weak transcription	HMEC	breast
7	chr7:107927200-107939600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:107930200-107934800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:107930200-107938400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:107930600-107933800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:107930600-107934000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:107930600-107934000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:107930600-107934600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:107930600-107936400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:107930600-107938400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:107930800-107934000	Enhancers	Brain Germinal Matrix	brain
17	chr7:107931000-107935000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:107931000-107947400	Weak transcription	Fetal Brain Female	brain
19	chr7:107931200-107934000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:107932000-107950600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:107932200-107933800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr7:107932200-107933800	Enhancers	Fetal Lung	lung
23	chr7:107932200-107939800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:107932400-107933800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:107932400-107935000	Weak transcription	NHEK	skin
26	chr7:107932400-107937400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:107932400-107938000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:107932600-107933800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:107932600-107934600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:107932800-107934600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:107932800-107934600	Enhancers	NH-A	brain
32	chr7:107932800-107939600	Weak transcription	Fetal Intestine Large	intestine
33	chr7:107933000-107935000	Enhancers	Brain Cingulate Gyrus	brain
34	chr7:107933000-107936600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:107933000-107938000	Enhancers	A549	lung
36	chr7:107933200-107933800	Weak transcription	Fetal Brain Male	brain
37	chr7:107933200-107934000	Flanking Active TSS	HUVEC	blood vessel
38	chr7:107933200-107934600	Weak transcription	Adipose Nuclei	Adipose
39	chr7:107933400-107933800	Weak transcription	Fetal Intestine Small	intestine
40	chr7:107933400-107934200	Enhancers	Brain Anterior Caudate	brain
41	chr7:107933400-107942800	Weak transcription	Brain Angular Gyrus	brain
42	chr7:107933600-107933800	Enhancers	Brain Substantia Nigra	brain
43	chr7:107933600-107933800	Enhancers	Right Atrium	heart
44	chr7:107933600-107934000	Enhancers	Aorta	Aorta
45	chr7:107933600-107934000	Enhancers	Psoas Muscle	Psoas
46	chr7:107933600-107934800	Weak transcription	Fetal Kidney	kidney
47	chr7:107933600-107947400	Weak transcription	Brain Hippocampus Middle	brain

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