Variant report

Variant	rs236293
Chromosome Location	chr1:94119637-94119638
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94118755..94120990-chr1:94126117..94127975,2	K562	blood:
2	chr1:94119490..94122947-chr1:94126117..94129381,3	K562	blood:
3	chr1:94117141..94121029-chr1:94132853..94136106,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12565999	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12568405	1.00[JPT][hapmap]
rs1618866	0.85[AMR][1000 genomes]
rs17110076	1.00[CEU][hapmap]
rs1740068	0.85[AMR][1000 genomes]
rs1740069	0.97[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs182913	0.85[AMR][1000 genomes]
rs183537	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2295330	1.00[CEU][hapmap]
rs236266	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs236274	0.85[AMR][1000 genomes]
rs236275	0.85[AMR][1000 genomes]
rs236278	0.85[AMR][1000 genomes]
rs236283	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs236284	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs236287	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs236295	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs236296	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs236300	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs236302	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs236303	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs236304	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs236305	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs236343	0.86[JPT][hapmap]
rs3754200	1.00[EUR][1000 genomes]
rs376056	0.85[ASN][1000 genomes]
rs3767979	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs3767991	1.00[CEU][hapmap]
rs3767993	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6541380	1.00[CEU][hapmap]
rs6657709	1.00[JPT][hapmap]
rs6660740	1.00[JPT][hapmap]
rs6674143	1.00[CEU][hapmap]
rs6704479	0.84[JPT][hapmap]
rs798214	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94094200-94120400	Weak transcription	Psoas Muscle	Psoas
2	chr1:94095600-94125400	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:94100000-94135800	Weak transcription	Fetal Stomach	stomach
4	chr1:94101600-94128800	Weak transcription	Right Ventricle	heart
5	chr1:94102000-94119800	Weak transcription	HSMMtube	muscle
6	chr1:94102000-94125400	Weak transcription	Fetal Kidney	kidney
7	chr1:94102000-94125600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:94103000-94121800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:94103800-94135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:94106400-94126000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:94107200-94125600	Weak transcription	Aorta	Aorta
12	chr1:94107800-94120000	Weak transcription	Primary B cells from cord blood	blood
13	chr1:94108600-94122200	Weak transcription	HUVEC	blood vessel
14	chr1:94108600-94130400	Weak transcription	Esophagus	oesophagus
15	chr1:94110200-94124400	Strong transcription	NHEK	skin
16	chr1:94110800-94120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:94110800-94127400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:94110800-94128800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:94110800-94130200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:94111200-94127600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:94111600-94126800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:94111800-94122200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:94111800-94127400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:94112400-94125800	Strong transcription	Hela-S3	cervix
25	chr1:94112400-94127400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:94113000-94122400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:94113800-94124200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:94114600-94125600	Weak transcription	Brain Substantia Nigra	brain
29	chr1:94114800-94120200	Strong transcription	HMEC	breast
30	chr1:94115000-94128800	Weak transcription	Left Ventricle	heart
31	chr1:94115000-94132000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:94116000-94120200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:94116400-94120800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:94116800-94120800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:94117200-94119800	Weak transcription	Osteobl	bone
36	chr1:94117200-94121000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:94117400-94120800	Strong transcription	Placenta	Placenta
38	chr1:94117400-94127400	Genic enhancers	Muscle Satellite Cultured Cells	--
39	chr1:94117400-94128800	Weak transcription	Spleen	Spleen
40	chr1:94117600-94119800	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:94117600-94127600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:94117600-94128200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:94117800-94119800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:94118000-94125200	Weak transcription	HepG2	liver
45	chr1:94118000-94126000	Weak transcription	Stomach Mucosa	stomach
46	chr1:94118200-94121600	Enhancers	Brain Anterior Caudate	brain
47	chr1:94118600-94125400	Weak transcription	Fetal Lung	lung
48	chr1:94118800-94119800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:94118800-94120000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:94118800-94120600	Strong transcription	NH-A	brain

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