Variant report

Variant	rs11607278
Chromosome Location	chr11:58965209-58965210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58963712..58965636-chr11:58967051..58969035,2	K562	blood:
2	chr11:58960553..58962825-chr11:58964256..58966200,2	K562	blood:

Variant related genes	Relation type
ENSG00000110042	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11600401	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11606140	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11607673	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12419479	0.88[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2000478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2211912	0.96[CEU][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34697089	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3944255	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4369428	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4939269	0.88[CEU][hapmap]
rs5029315	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610123	1.00[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61903328	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs656163	0.88[CEU][hapmap];0.84[JPT][hapmap]
rs6591509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7113633	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7113936	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7131079	0.92[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7928981	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7942710	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7944135	1.00[CEU][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7944319	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7952377	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11607278	DTX4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58943600-58975400	Weak transcription	NHEK	skin
2	chr11:58949400-58973400	Weak transcription	Right Ventricle	heart
3	chr11:58950000-58978400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:58950400-58972200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:58954600-58966200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:58955000-58967200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:58955200-58965400	Strong transcription	Fetal Brain Female	brain
8	chr11:58955400-58966000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:58955400-58966000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:58955400-58970800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:58955600-58965400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr11:58955600-58965800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:58956400-58965400	Weak transcription	Psoas Muscle	Psoas
14	chr11:58956400-58977400	Weak transcription	Hela-S3	cervix
15	chr11:58957000-58967600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:58957400-58965400	Weak transcription	Left Ventricle	heart
17	chr11:58958600-58968400	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:58959200-58967600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr11:58959400-58968400	Strong transcription	Fetal Intestine Large	intestine
20	chr11:58959400-58968800	Weak transcription	HepG2	liver
21	chr11:58959600-58974600	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr11:58959800-58968400	Strong transcription	Fetal Intestine Small	intestine
23	chr11:58959800-58968400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr11:58960400-58974800	Weak transcription	Aorta	Aorta
25	chr11:58961600-58965400	Weak transcription	Pancreas	Pancrea
26	chr11:58962000-58967600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:58962200-58969400	Genic enhancers	Adipose Nuclei	Adipose
28	chr11:58962800-58965800	Genic enhancers	Liver	Liver
29	chr11:58962800-58975000	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr11:58963000-58968800	Weak transcription	Esophagus	oesophagus
31	chr11:58963200-58968400	Weak transcription	Spleen	Spleen
32	chr11:58963200-58972200	Weak transcription	Small Intestine	intestine
33	chr11:58963400-58973800	Weak transcription	Primary T cells from cord blood	blood
34	chr11:58963600-58965400	Genic enhancers	Fetal Lung	lung
35	chr11:58963600-58969000	Genic enhancers	Primary B cells from cord blood	blood
36	chr11:58963800-58965600	Strong transcription	Rectal Smooth Muscle	rectum
37	chr11:58964000-58965800	Genic enhancers	Lung	lung
38	chr11:58964200-58965800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:58964200-58968400	Weak transcription	Colonic Mucosa	Colon
40	chr11:58964200-58976000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:58964400-58965600	Genic enhancers	Placenta	Placenta
42	chr11:58964400-58967200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:58964400-58968200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:58964400-58977400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:58964600-58965400	Enhancers	Brain Cingulate Gyrus	brain
46	chr11:58964600-58965800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr11:58964600-58966000	Genic enhancers	Brain Anterior Caudate	brain
48	chr11:58964600-58966800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:58964600-58967000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr11:58964600-58968600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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