Variant report

Variant	rs4744109
Chromosome Location	chr9:94642340-94642341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94640107..94642644-chr9:94644861..94647641,2	K562	blood:
2	chr9:94641817..94643317-chr9:94650910..94653000,2	K562	blood:
3	chr9:94634801..94638279-chr9:94639316..94642885,4	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10761133	0.84[CEU][hapmap]
rs10761134	0.83[CEU][hapmap]
rs10761135	0.84[CEU][hapmap]
rs10820906	0.82[CEU][hapmap]
rs10820908	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10820910	0.92[CEU][hapmap]
rs10820914	0.84[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10992123	0.80[CEU][hapmap];0.85[EUR][1000 genomes]
rs10992124	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs10992128	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs10992129	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs10992130	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs10992131	0.84[CEU][hapmap]
rs10992132	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs10992134	0.83[CEU][hapmap]
rs10992135	0.88[CEU][hapmap]
rs10992136	0.84[CEU][hapmap]
rs10992137	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs10992139	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs10992140	0.88[EUR][1000 genomes]
rs10992142	0.81[CEU][hapmap]
rs10992143	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs10992144	0.81[CEU][hapmap]
rs10992145	0.81[CEU][hapmap]
rs10992149	0.87[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10992151	0.88[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11789973	0.83[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11790144	0.84[CEU][hapmap]
rs12376130	0.88[CEU][hapmap]
rs12552292	0.87[EUR][1000 genomes]
rs12552858	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs12555334	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12683797	0.91[CEU][hapmap];0.86[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12684524	0.87[CEU][hapmap]
rs1528363	0.88[CEU][hapmap]
rs1528364	0.88[CEU][hapmap]
rs1534531	0.87[EUR][1000 genomes]
rs1534533	0.92[CEU][hapmap]
rs16907887	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs1881387	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs1881392	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs2030991	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2312732	0.81[CEU][hapmap]
rs2841691	0.86[EUR][1000 genomes]
rs4517189	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4639579	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs4743857	0.83[CEU][hapmap]
rs4744107	0.81[CEU][hapmap]
rs4744108	0.90[EUR][1000 genomes]
rs4744110	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4744111	0.92[CEU][hapmap]
rs4744112	0.84[CEU][hapmap]
rs4744113	0.92[CEU][hapmap];0.87[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55663665	0.85[EUR][1000 genomes]
rs55864279	0.91[EUR][1000 genomes]
rs56088447	0.89[EUR][1000 genomes]
rs56308784	0.87[EUR][1000 genomes]
rs58202197	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58431919	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59723153	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62564597	0.88[EUR][1000 genomes]
rs62564599	0.89[EUR][1000 genomes]
rs62565674	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6479376	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs6479383	0.80[CEU][hapmap]
rs67944481	0.90[EUR][1000 genomes]
rs7031562	0.87[CEU][hapmap]
rs7033819	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7039406	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs7048756	0.88[CEU][hapmap]
rs7850118	0.81[CEU][hapmap]
rs7850636	0.87[EUR][1000 genomes]
rs7855417	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs7859331	0.80[CEU][hapmap]
rs7863061	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs7867707	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs7870049	0.88[CEU][hapmap]
rs7870902	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94627000-94650800	Weak transcription	Gastric	stomach
2	chr9:94627200-94648600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:94627600-94647400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:94633000-94644600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:94636600-94642800	Weak transcription	Left Ventricle	heart
6	chr9:94636600-94646000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:94636600-94647200	Weak transcription	Fetal Intestine Large	intestine
8	chr9:94636800-94645400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:94637800-94645000	Weak transcription	Fetal Intestine Small	intestine
10	chr9:94638000-94643200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:94638200-94643000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:94638200-94643000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:94638200-94646200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr9:94638400-94646000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr9:94638800-94644200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr9:94639200-94645200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:94639400-94645000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:94639800-94644000	Weak transcription	Right Atrium	heart
19	chr9:94639800-94647400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr9:94640400-94642600	Weak transcription	Fetal Heart	heart
21	chr9:94640400-94645200	Strong transcription	Fetal Stomach	stomach
22	chr9:94641000-94643000	Weak transcription	Fetal Lung	lung
23	chr9:94641400-94643200	Enhancers	Ovary	ovary
24	chr9:94641600-94644400	Genic enhancers	K562	blood
25	chr9:94641800-94643600	Enhancers	Colon Smooth Muscle	Colon
26	chr9:94641800-94644800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:94642000-94643800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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