Variant report

Variant	rs2332175
Chromosome Location	chr14:70345411-70345412
allele	A/G
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	REST	chr14:70345363-70346657	H1-neurons	neurons:	n/a	chr14:70346283-70346293 chr14:70346276-70346289 chr14:70346269-70346289 chr14:70346269-70346289 chr14:70346269-70346283 chr14:70345868-70345878
2	POLR2A	chr14:70345302-70346849	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SMOC1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10138095	0.93[JPT][hapmap]
rs11158820	0.81[ASW][hapmap];1.00[LWK][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs11621436	0.85[CEU][hapmap]
rs4902760	0.89[CEU][hapmap];0.81[CHB][hapmap]
rs56307916	0.92[AFR][1000 genomes]
rs749395	0.83[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2332175	SLC10A1	cis	parietal	SCAN
rs2332175	ERH	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70341400-70346200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:70342800-70345800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:70343600-70345600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr14:70343800-70345800	Enhancers	Spleen	Spleen
5	chr14:70344000-70345600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:70344000-70345800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr14:70344000-70345800	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr14:70344000-70346000	Weak transcription	HMEC	breast
9	chr14:70344200-70345600	Enhancers	Liver	Liver
10	chr14:70344200-70345600	Weak transcription	Pancreas	Pancrea
11	chr14:70344200-70345800	Bivalent Enhancer	Fetal Stomach	stomach
12	chr14:70344200-70345800	Weak transcription	Right Atrium	heart
13	chr14:70344400-70345600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:70344400-70345600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:70344400-70345800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:70344400-70345800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr14:70344400-70345800	Enhancers	Brain Hippocampus Middle	brain
18	chr14:70344600-70345600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:70344600-70345600	Flanking Active TSS	HepG2	liver
20	chr14:70344600-70346000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:70344800-70345600	Enhancers	Brain Cingulate Gyrus	brain
22	chr14:70344800-70345800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:70344800-70345800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:70344800-70345800	Enhancers	Brain Substantia Nigra	brain
25	chr14:70344800-70345800	Weak transcription	Osteobl	bone
26	chr14:70345000-70345600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:70345000-70345800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:70345200-70345600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:70345400-70345600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
30	chr14:70345400-70345600	Enhancers	Fetal Brain Female	brain
31	chr14:70345400-70345600	Bivalent Enhancer	NHEK	skin
32	chr14:70345400-70345800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:70345400-70345800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:70345400-70346000	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr14:70345400-70346000	Bivalent Enhancer	Placenta	Placenta
36	chr14:70345400-70346000	Flanking Active TSS	Hela-S3	cervix
37	chr14:70345400-70346600	Enhancers	Fetal Brain Male	brain

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