Variant report

Variant	rs11606318
Chromosome Location	chr11:3878386-3878387
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IKZF1	chr11:3877925-3878395	GM12878	blood:	n/a	n/a
2	MXI1	chr11:3878172-3878419	K562	blood:	n/a	n/a
3	WRNIP1	chr11:3877432-3879298	GM12878	blood:	n/a	n/a
4	IRF1	chr11:3877609-3878493	K562	blood:	n/a	chr11:3878041-3878055 chr11:3878038-3878055 chr11:3878041-3878051 chr11:3878040-3878057
5	GATA1	chr11:3877436-3878653	PBDE	blood:	n/a	n/a
6	ZNF384	chr11:3878015-3878547	GM12878	blood:	n/a	n/a
7	CTCF	chr11:3878280-3878430	NHEK	skin:	n/a	n/a
8	MXI1	chr11:3875094-3878467	GM12878	blood:	n/a	n/a
9	ZNF384	chr11:3878126-3878557	K562	blood:	n/a	n/a
10	NR2F2	chr11:3876884-3878940	K562	blood:	n/a	chr11:3877332-3877347 chr11:3877898-3877913

No.	Distal block	Cell Line	Cell type
1	chr11:3858623..3864245-chr11:3874959..3879217,11	K562	blood:
2	chr11:3853294..3855023-chr11:3877821..3880627,2	K562	blood:
3	chr11:3860189..3865275-chr11:3872883..3879283,10	K562	blood:

Variant related genes	Relation type
ENSG00000228661	TF binding region
ENSG00000177105	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1049388	1.00[ASN][1000 genomes]
rs11029983	1.00[ASN][1000 genomes]
rs11030043	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11030044	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11030055	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11030173	1.00[ASN][1000 genomes]
rs11600857	1.00[ASN][1000 genomes]
rs11606483	1.00[ASN][1000 genomes]
rs17173882	1.00[ASN][1000 genomes]
rs17191448	1.00[ASN][1000 genomes]
rs17276405	1.00[ASN][1000 genomes]
rs17276453	1.00[ASN][1000 genomes]
rs4367942	0.81[EUR][1000 genomes]
rs4910577	1.00[ASN][1000 genomes]
rs4910846	1.00[ASN][1000 genomes]
rs4910852	1.00[ASN][1000 genomes]
rs4910856	1.00[ASN][1000 genomes]
rs4910857	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61896929	1.00[ASN][1000 genomes]
rs61896930	1.00[ASN][1000 genomes]
rs61896931	1.00[ASN][1000 genomes]
rs61896953	1.00[ASN][1000 genomes]
rs61896954	1.00[ASN][1000 genomes]
rs61896956	1.00[ASN][1000 genomes]
rs61896957	1.00[ASN][1000 genomes]
rs61896958	1.00[ASN][1000 genomes]
rs61896959	1.00[ASN][1000 genomes]
rs61899361	1.00[ASN][1000 genomes]
rs61899362	1.00[ASN][1000 genomes]
rs61899363	1.00[ASN][1000 genomes]
rs61899392	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61899393	1.00[ASN][1000 genomes]
rs6578414	1.00[ASN][1000 genomes]
rs7101788	1.00[ASN][1000 genomes]
rs72844340	1.00[ASN][1000 genomes]
rs72844341	1.00[ASN][1000 genomes]
rs73430467	1.00[ASN][1000 genomes]
rs74050940	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1046325	chr11:3856201-3895148	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1039059	chr11:3856201-3909415	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
10	nsv540910	chr11:3856201-3909415	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1051580	chr11:3856201-3924216	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1043265	chr11:3856201-3926407	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
13	nsv896894	chr11:3859856-3888234	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3875800-3878800	Active TSS	Thymus	Thymus
2	chr11:3876000-3878400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr11:3876000-3878400	Active TSS	Psoas Muscle	Psoas
4	chr11:3876000-3879200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:3876200-3878400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:3876200-3878400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:3876200-3878400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr11:3876200-3878800	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr11:3876200-3878800	Active TSS	Esophagus	oesophagus
10	chr11:3876200-3878800	Active TSS	GM12878-XiMat	blood
11	chr11:3876200-3879000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr11:3876400-3878800	Active TSS	Ovary	ovary
13	chr11:3876400-3879000	Active TSS	Aorta	Aorta
14	chr11:3876600-3878400	Active TSS	Primary T cells fromperipheralblood	blood
15	chr11:3877000-3879400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:3877200-3878800	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr11:3877200-3879200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:3877200-3879600	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr11:3877200-3881200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:3877400-3878400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:3877400-3878400	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr11:3877400-3879200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:3877400-3879400	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr11:3877400-3879800	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr11:3877400-3881200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr11:3877400-3881200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr11:3877400-3881400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr11:3877400-3882600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr11:3877600-3878400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:3877600-3878400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:3877600-3878400	Flanking Active TSS	Fetal Stomach	stomach
32	chr11:3877600-3878400	Flanking Active TSS	Hela-S3	cervix
33	chr11:3877600-3878600	Flanking Active TSS	Fetal Lung	lung
34	chr11:3877600-3879000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:3877600-3879000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:3877600-3879000	Flanking Active TSS	Liver	Liver
37	chr11:3877600-3879200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr11:3877600-3879200	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr11:3877600-3879400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr11:3877600-3879400	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr11:3877600-3881200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:3877600-3881400	Flanking Active TSS	Fetal Thymus	thymus
43	chr11:3877600-3883800	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr11:3877800-3878400	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr11:3877800-3879000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:3877800-3879000	Flanking Active TSS	Colonic Mucosa	Colon
47	chr11:3877800-3879000	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr11:3877800-3879200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:3877800-3879200	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr11:3877800-3879200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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