Variant report

Variant	rs168190
Chromosome Location	chr5:77936965-77936966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:77935628..77937313-chr5:77945519..77948138,2	MCF-7	breast:
2	chr5:77932938..77939935-chr5:77942023..77946135,10	MCF-7	breast:
3	chr5:77936618..77938171-chr5:77943031..77945738,2	K562	blood:
4	chr5:77935729..77937549-chr5:77939132..77942017,2	K562	blood:

Variant related genes	Relation type
ENSG00000248909	Chromatin interaction
ENSG00000145685	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10060702	0.94[ASN][1000 genomes]
rs163633	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs171035	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs189322	0.92[ASN][1000 genomes]
rs341917	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.91[ASN][1000 genomes]
rs341918	0.94[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs341919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs341920	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs341924	0.91[ASN][1000 genomes]
rs341925	0.94[ASN][1000 genomes]
rs341926	0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs341927	0.94[ASN][1000 genomes]
rs341928	0.94[ASN][1000 genomes]
rs341930	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs344639	0.93[ASN][1000 genomes]
rs461989	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522738	chr5:77434730-78063683	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3522739	chr5:77434730-78063683	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv949530	chr5:77830403-78477017	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830356	chr5:77847022-78011999	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1021768	chr5:77881915-78465489	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv2762527	chr5:77921199-78548196	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv1792242	chr5:77927033-77966625	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs168190	F2RL1	cis	cerebellum	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:77926600-77937000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:77928200-77942400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:77929200-77937200	Enhancers	Colon Smooth Muscle	Colon
4	chr5:77930600-77938000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:77931000-77942800	Weak transcription	K562	blood
6	chr5:77932200-77937400	Enhancers	Rectal Smooth Muscle	rectum
7	chr5:77932200-77937800	Enhancers	Fetal Intestine Small	intestine
8	chr5:77932400-77938600	Enhancers	Fetal Intestine Large	intestine
9	chr5:77932800-77937000	Enhancers	Hela-S3	cervix
10	chr5:77932800-77938200	Enhancers	HMEC	breast
11	chr5:77933000-77937200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr5:77933200-77937200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:77933200-77937200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:77933200-77937200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:77933200-77937200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:77933200-77937200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:77933200-77937200	Enhancers	NH-A	brain
18	chr5:77933400-77937200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:77933400-77937200	Enhancers	Adipose Nuclei	Adipose
20	chr5:77933400-77937200	Enhancers	Stomach Mucosa	stomach
21	chr5:77933400-77937200	Enhancers	NHDF-Ad	bronchial
22	chr5:77933600-77937200	Enhancers	Osteobl	bone
23	chr5:77933600-77937400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:77933800-77938000	Enhancers	Fetal Muscle Leg	muscle
25	chr5:77933800-77940600	Weak transcription	Placenta	Placenta
26	chr5:77933800-77941400	Weak transcription	Right Atrium	heart
27	chr5:77933800-77943200	Weak transcription	Esophagus	oesophagus
28	chr5:77934200-77937200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:77934200-77937200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:77934200-77937200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:77934400-77937200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr5:77934400-77937200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:77934400-77937200	Enhancers	Fetal Stomach	stomach
34	chr5:77934400-77937200	Enhancers	NHLF	lung
35	chr5:77934600-77937200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:77934600-77937200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr5:77934600-77940600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:77934600-77942400	Weak transcription	Colonic Mucosa	Colon
39	chr5:77934800-77937200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:77934800-77937400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr5:77934800-77937400	Enhancers	Brain Hippocampus Middle	brain
42	chr5:77934800-77937600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:77935000-77937400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr5:77935000-77938400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:77935200-77937200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:77935200-77937200	Enhancers	Fetal Heart	heart
47	chr5:77935200-77940400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr5:77935200-77942000	Weak transcription	Right Ventricle	heart
49	chr5:77935200-77942600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr5:77935400-77937200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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