Variant report

Variant	rs11229869
Chromosome Location	chr11:58964484-58964485
allele	C/T
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: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1048696	1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10501375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10501376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896949	0.82[EUR][1000 genomes]
rs10896950	0.82[EUR][1000 genomes]
rs10896957	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11229868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11229870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229872	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11229873	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11229874	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11229875	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11229882	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11229901	0.87[EUR][1000 genomes]
rs11229902	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs11229903	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs11229904	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12223401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12284370	0.82[EUR][1000 genomes]
rs12575770	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12576150	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12576412	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12576558	0.83[EUR][1000 genomes]
rs12576879	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12577252	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17153538	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1938595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35654554	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3740946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3781796	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59466005	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60265864	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61086875	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7104296	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7104437	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7926933	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7942203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs869155	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11229869	MPEG1	Cis_1M	lymphoblastoid	RTeQTL
rs11229869	DTX4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 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	chr11:58954400-58965200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:58954600-58966200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:58955000-58967200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:58955200-58965400	Strong transcription	Fetal Brain Female	brain
9	chr11:58955400-58966000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:58955400-58966000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:58955400-58970800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:58955600-58964800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:58955600-58965400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr11:58955600-58965800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:58956000-58965200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:58956200-58965000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:58956200-58965000	Strong transcription	Ovary	ovary
18	chr11:58956400-58964800	Strong transcription	Fetal Brain Male	brain
19	chr11:58956400-58965400	Weak transcription	Psoas Muscle	Psoas
20	chr11:58956400-58977400	Weak transcription	Hela-S3	cervix
21	chr11:58956600-58964600	Strong transcription	Brain Anterior Caudate	brain
22	chr11:58956800-58965200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:58957000-58967600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:58957400-58965400	Weak transcription	Left Ventricle	heart
25	chr11:58957600-58964800	Strong transcription	Fetal Muscle Leg	muscle
26	chr11:58957600-58964800	Strong transcription	Fetal Stomach	stomach
27	chr11:58958200-58964600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:58958600-58964800	Strong transcription	Fetal Kidney	kidney
29	chr11:58958600-58968400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:58959000-58965200	Weak transcription	NHLF	lung
31	chr11:58959200-58964600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:58959200-58967600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr11:58959400-58964800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:58959400-58968400	Strong transcription	Fetal Intestine Large	intestine
35	chr11:58959400-58968800	Weak transcription	HepG2	liver
36	chr11:58959600-58974600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr11:58959800-58968400	Strong transcription	Fetal Intestine Small	intestine
38	chr11:58959800-58968400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr11:58960400-58974800	Weak transcription	Aorta	Aorta
40	chr11:58960600-58965000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr11:58961000-58965000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr11:58961000-58965200	Weak transcription	Colon Smooth Muscle	Colon
43	chr11:58961600-58965200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:58961600-58965400	Weak transcription	Pancreas	Pancrea
45	chr11:58962000-58964600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:58962000-58967600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:58962200-58964600	Strong transcription	HMEC	breast
48	chr11:58962200-58965200	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr11:58962200-58969400	Genic enhancers	Adipose Nuclei	Adipose
50	chr11:58962400-58965200	Weak transcription	Stomach Mucosa	stomach

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