Variant report

Variant	rs236266
Chromosome Location	chr1:94107447-94107448
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94106443..94109001-chr1:94145542..94148365,4	MCF-7	breast:
2	chr1:94106165..94107868-chr1:94109235..94111815,2	K562	blood:
3	chr1:94096748..94098935-chr1:94106081..94108705,3	K562	blood:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12084853	1.00[JPT][hapmap]
rs12568405	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1618866	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17110076	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1740068	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1740069	0.87[AMR][1000 genomes]
rs1772781	1.00[JPT][hapmap]
rs182913	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs183537	1.00[AMR][1000 genomes]
rs183538	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2295330	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs236274	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs236275	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs236278	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs236281	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs236283	0.85[AMR][1000 genomes]
rs236293	0.85[AMR][1000 genomes]
rs236295	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs236296	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs236300	0.87[AMR][1000 genomes]
rs236302	0.87[AMR][1000 genomes]
rs236303	1.00[AMR][1000 genomes]
rs236304	0.87[AMR][1000 genomes]
rs236305	0.87[AMR][1000 genomes]
rs236308	0.90[JPT][hapmap]
rs236312	1.00[JPT][hapmap]
rs236313	1.00[JPT][hapmap]
rs236343	0.89[JPT][hapmap]
rs3754189	0.81[EUR][1000 genomes]
rs3767973	0.94[EUR][1000 genomes]
rs3767979	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes]
rs3767981	1.00[EUR][1000 genomes]
rs3767987	1.00[EUR][1000 genomes]
rs3767991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs399649	1.00[JPT][hapmap]
rs423493	1.00[JPT][hapmap]
rs57012808	0.94[EUR][1000 genomes]
rs57466479	0.94[EUR][1000 genomes]
rs57914444	0.94[EUR][1000 genomes]
rs59777284	0.94[EUR][1000 genomes]
rs60159857	1.00[EUR][1000 genomes]
rs6541380	1.00[CEU][hapmap]
rs6541387	1.00[JPT][hapmap]
rs6674143	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6699020	1.00[CEU][hapmap]
rs6702036	1.00[JPT][hapmap]
rs6704479	1.00[JPT][hapmap]
rs7524368	0.94[EUR][1000 genomes]
rs798213	1.00[JPT][hapmap]
rs798214	0.85[AMR][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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94083400-94108200	Weak transcription	Esophagus	oesophagus
2	chr1:94085400-94107600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:94088600-94118800	Weak transcription	Gastric	stomach
4	chr1:94091600-94107600	Weak transcription	Ovary	ovary
5	chr1:94091800-94117400	Weak transcription	Fetal Lung	lung
6	chr1:94094200-94120400	Weak transcription	Psoas Muscle	Psoas
7	chr1:94095600-94125400	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:94097200-94108400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:94097400-94108600	Strong transcription	NHEK	skin
10	chr1:94097800-94111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:94100000-94135800	Weak transcription	Fetal Stomach	stomach
12	chr1:94100400-94108600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:94100400-94112000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:94101600-94109800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:94101600-94128800	Weak transcription	Right Ventricle	heart
16	chr1:94101800-94110400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:94102000-94107800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:94102000-94107800	Strong transcription	HSMM	muscle
19	chr1:94102000-94108000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:94102000-94108000	Weak transcription	Spleen	Spleen
21	chr1:94102000-94108600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:94102000-94108600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:94102000-94117200	Weak transcription	Lung	lung
24	chr1:94102000-94119800	Weak transcription	HSMMtube	muscle
25	chr1:94102000-94125400	Weak transcription	Fetal Kidney	kidney
26	chr1:94102000-94125600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:94102600-94114200	Weak transcription	Brain Substantia Nigra	brain
28	chr1:94102600-94119200	Weak transcription	Fetal Intestine Small	intestine
29	chr1:94102800-94108200	Strong transcription	Fetal Muscle Leg	muscle
30	chr1:94102800-94119000	Weak transcription	Brain Angular Gyrus	brain
31	chr1:94103000-94121800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:94103800-94108600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:94103800-94135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:94104200-94108600	Strong transcription	HUVEC	blood vessel
35	chr1:94104400-94107600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:94104400-94107600	Weak transcription	GM12878-XiMat	blood
37	chr1:94104400-94107800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:94104400-94108400	Strong transcription	NHLF	lung
39	chr1:94104800-94117600	Weak transcription	HepG2	liver
40	chr1:94105000-94107800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:94105000-94108000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:94105000-94108000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:94105000-94108000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:94105000-94108200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:94105000-94108200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:94105000-94108200	Strong transcription	Hela-S3	cervix
47	chr1:94105000-94109200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:94105000-94109200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:94105000-94109600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:94105000-94110000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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