Variant report

Variant	rs236292
Chromosome Location	chr1:94120564-94120565
allele	A/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	chr1:94090065..94091914-chr1:94120278..94122709,2	K562	blood:
3	chr1:94119490..94122947-chr1:94126117..94129381,3	K562	blood:
4	chr1:94117141..94121029-chr1:94132853..94136106,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12084853	1.00[JPT][hapmap]
rs12565999	0.80[ASN][1000 genomes]
rs12568405	1.00[JPT][hapmap]
rs1292929	0.98[ASN][1000 genomes]
rs1772781	1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs1772782	0.83[EUR][1000 genomes]
rs236266	1.00[JPT][hapmap]
rs236267	0.85[EUR][1000 genomes]
rs236270	0.85[EUR][1000 genomes]
rs236271	0.85[EUR][1000 genomes]
rs236277	0.85[EUR][1000 genomes]
rs236284	0.88[ASN][1000 genomes]
rs236285	0.88[ASN][1000 genomes]
rs236287	0.88[ASN][1000 genomes]
rs236288	0.98[ASN][1000 genomes]
rs236291	0.98[ASN][1000 genomes]
rs236295	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs236296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs236301	0.98[ASN][1000 genomes]
rs236302	0.80[ASN][1000 genomes]
rs236303	0.80[ASN][1000 genomes]
rs236304	0.80[ASN][1000 genomes]
rs236305	0.80[ASN][1000 genomes]
rs236308	0.90[JPT][hapmap]
rs236312	1.00[JPT][hapmap]
rs236313	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs236331	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs236343	0.89[JPT][hapmap]
rs3767975	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs3767979	0.89[JPT][hapmap]
rs3767991	1.00[JPT][hapmap]
rs3767993	0.80[ASN][1000 genomes]
rs399649	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs423493	1.00[JPT][hapmap]
rs6541387	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6541389	0.88[ASN][1000 genomes]
rs6684568	0.84[ASN][1000 genomes]
rs6701871	0.84[ASN][1000 genomes]
rs6702036	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6704479	1.00[JPT][hapmap]
rs7519952	0.88[ASN][1000 genomes]
rs798213	1.00[JPT][hapmap]
rs798214	0.80[ASN][1000 genomes]
rs955470	0.88[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	chr1:94095600-94125400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:94100000-94135800	Weak transcription	Fetal Stomach	stomach
3	chr1:94101600-94128800	Weak transcription	Right Ventricle	heart
4	chr1:94102000-94125400	Weak transcription	Fetal Kidney	kidney
5	chr1:94102000-94125600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:94103000-94121800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:94103800-94135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:94106400-94126000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:94107200-94125600	Weak transcription	Aorta	Aorta
10	chr1:94108600-94122200	Weak transcription	HUVEC	blood vessel
11	chr1:94108600-94130400	Weak transcription	Esophagus	oesophagus
12	chr1:94110200-94124400	Strong transcription	NHEK	skin
13	chr1:94110800-94120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:94110800-94127400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:94110800-94128800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:94110800-94130200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:94111200-94127600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:94111600-94126800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:94111800-94122200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:94111800-94127400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:94112400-94125800	Strong transcription	Hela-S3	cervix
22	chr1:94112400-94127400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:94113000-94122400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:94113800-94124200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:94114600-94125600	Weak transcription	Brain Substantia Nigra	brain
26	chr1:94115000-94128800	Weak transcription	Left Ventricle	heart
27	chr1:94115000-94132000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:94116400-94120800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:94116800-94120800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:94117200-94121000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:94117400-94120800	Strong transcription	Placenta	Placenta
32	chr1:94117400-94127400	Genic enhancers	Muscle Satellite Cultured Cells	--
33	chr1:94117400-94128800	Weak transcription	Spleen	Spleen
34	chr1:94117600-94127600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:94117600-94128200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:94118000-94125200	Weak transcription	HepG2	liver
37	chr1:94118000-94126000	Weak transcription	Stomach Mucosa	stomach
38	chr1:94118200-94121600	Enhancers	Brain Anterior Caudate	brain
39	chr1:94118600-94125400	Weak transcription	Fetal Lung	lung
40	chr1:94118800-94120600	Strong transcription	NH-A	brain
41	chr1:94118800-94120800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:94118800-94121600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:94119000-94120600	Strong transcription	Adipose Nuclei	Adipose
44	chr1:94119200-94121000	Weak transcription	NHDF-Ad	bronchial
45	chr1:94119200-94121000	Strong transcription	NHLF	lung
46	chr1:94119400-94122800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:94119400-94124400	Weak transcription	Ovary	ovary
48	chr1:94119600-94120600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:94119600-94120600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:94119600-94120800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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