Variant report

Variant	rs1418422
Chromosome Location	chr1:228112465-228112466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228110564..228113344-chr1:228642639..228644578,2	K562	blood:
2	chr1:228111067..228112932-chr1:228117820..228119468,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11584326	0.83[EUR][1000 genomes]
rs1636193	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1636194	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1774754	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2262292	0.83[EUR][1000 genomes]
rs2485254	0.91[EUR][1000 genomes]
rs2796055	0.91[EUR][1000 genomes]
rs587000	0.91[EUR][1000 genomes]
rs601050	0.83[EUR][1000 genomes]
rs638877	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs640440	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs652141	0.85[EUR][1000 genomes]
rs662658	0.90[EUR][1000 genomes]
rs680148	0.91[EUR][1000 genomes]
rs681824	0.90[EUR][1000 genomes]
rs849900	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1005852	chr1:227957099-228148363	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
7	nsv535319	chr1:227957099-228148363	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
8	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
10	nsv873250	chr1:228051234-228121548	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv873251	chr1:228051234-228160911	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
12	nsv826920	chr1:228106910-228116488	Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv826931	chr1:228112465-228113009	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1418422	OBSCN	cis	Esophagus Mucosa	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228098600-228117600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:228098800-228122800	Weak transcription	HSMMtube	muscle
3	chr1:228099400-228122400	Weak transcription	HSMM	muscle
4	chr1:228103800-228113800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:228103800-228117000	Weak transcription	Fetal Intestine Large	intestine
6	chr1:228105200-228112800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:228106600-228121400	Weak transcription	Psoas Muscle	Psoas
8	chr1:228107800-228134400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:228108200-228113000	Weak transcription	Colonic Mucosa	Colon
10	chr1:228108200-228113600	Strong transcription	Placenta Amnion	Placenta Amnion
11	chr1:228109000-228113400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:228109200-228113600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:228109200-228117800	Weak transcription	Pancreas	Pancrea
14	chr1:228109600-228112800	Weak transcription	HMEC	breast
15	chr1:228109600-228132000	Weak transcription	Gastric	stomach
16	chr1:228109800-228112600	Weak transcription	Esophagus	oesophagus
17	chr1:228109800-228112800	Weak transcription	Right Ventricle	heart
18	chr1:228109800-228117800	Weak transcription	Lung	lung
19	chr1:228109800-228134000	Weak transcription	Right Atrium	heart
20	chr1:228110000-228114000	Genic enhancers	Fetal Stomach	stomach
21	chr1:228110400-228113000	Enhancers	Fetal Lung	lung
22	chr1:228111000-228129800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:228111200-228113000	Strong transcription	Ovary	ovary
24	chr1:228111200-228116400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:228111200-228117000	Enhancers	Fetal Muscle Trunk	muscle
26	chr1:228111600-228114200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:228112000-228113000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:228112000-228113400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:228112000-228115200	Enhancers	Spleen	Spleen
30	chr1:228112000-228115400	Genic enhancers	Stomach Smooth Muscle	stomach
31	chr1:228112200-228112600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:228112200-228112600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:228112200-228112600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:228112200-228113800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:228112200-228114000	Enhancers	Fetal Heart	heart
36	chr1:228112200-228114000	Enhancers	Fetal Muscle Leg	muscle
37	chr1:228112200-228115200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:228112200-228115200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:228112400-228112600	Enhancers	Brain Germinal Matrix	brain
40	chr1:228112400-228113000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:228112400-228113000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:228112400-228113400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:228112400-228114400	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links