Variant report

Variant	rs7120945
Chromosome Location	chr11:3878186-3878187
allele	C/T
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	CTCF	chr11:3878140-3878290	GM12868	blood:	n/a	n/a
3	TBL1XR1	chr11:3877793-3878238	K562	blood:	n/a	n/a
4	MXI1	chr11:3878172-3878419	K562	blood:	n/a	n/a
5	WRNIP1	chr11:3877432-3879298	GM12878	blood:	n/a	n/a
6	CTCF	chr11:3878060-3878210	GM12865	blood:	n/a	n/a
7	IRF1	chr11:3877609-3878493	K562	blood:	n/a	chr11:3878041-3878055 chr11:3878038-3878055 chr11:3878041-3878051 chr11:3878040-3878057
8	GATA1	chr11:3877436-3878653	PBDE	blood:	n/a	n/a
9	ZNF384	chr11:3878015-3878547	GM12878	blood:	n/a	n/a
10	CTCF	chr11:3878120-3878270	GM12873	blood:	n/a	n/a
11	MYC	chr11:3875636-3878272	K562	blood:	n/a	chr11:3877019-3877029 chr11:3876969-3876979
12	MXI1	chr11:3875094-3878467	GM12878	blood:	n/a	n/a
13	ZNF384	chr11:3878126-3878557	K562	blood:	n/a	n/a
14	STAT3	chr11:3878126-3878230	GM12878	blood:	n/a	n/a
15	CTCF	chr11:3878080-3878230	GM12874	blood:	n/a	n/a
16	NR2F2	chr11:3876884-3878940	K562	blood:	n/a	chr11:3877332-3877347 chr11:3877898-3877913
17	SMC3	chr11:3877496-3878242	GM12878	blood:	n/a	n/a

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: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11030106	0.98[ASN][1000 genomes]
rs12280056	0.98[ASN][1000 genomes]
rs72847156	0.98[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:123 , 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	chr11:3876200-3878200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:3876200-3878200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:3876200-3878200	Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr11:3876200-3878200	Active TSS	HSMMtube	muscle
9	chr11:3876200-3878400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:3876200-3878400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:3876200-3878400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr11:3876200-3878800	Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr11:3876200-3878800	Active TSS	Esophagus	oesophagus
14	chr11:3876200-3878800	Active TSS	GM12878-XiMat	blood
15	chr11:3876200-3879000	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr11:3876400-3878800	Active TSS	Ovary	ovary
17	chr11:3876400-3879000	Active TSS	Aorta	Aorta
18	chr11:3876600-3878400	Active TSS	Primary T cells fromperipheralblood	blood
19	chr11:3877000-3879400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:3877200-3878200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:3877200-3878200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:3877200-3878200	Flanking Active TSS	Placenta	Placenta
23	chr11:3877200-3878800	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr11:3877200-3879200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:3877200-3879600	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr11:3877200-3881200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:3877400-3878200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:3877400-3878200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:3877400-3878200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:3877400-3878200	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr11:3877400-3878200	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr11:3877400-3878200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr11:3877400-3878200	Flanking Active TSS	K562	blood
34	chr11:3877400-3878400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:3877400-3878400	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr11:3877400-3879200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:3877400-3879400	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr11:3877400-3879800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr11:3877400-3881200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr11:3877400-3881200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr11:3877400-3881400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr11:3877400-3882600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr11:3877600-3878200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:3877600-3878200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:3877600-3878200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr11:3877600-3878200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:3877600-3878200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:3877600-3878200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:3877600-3878200	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr11:3877600-3878200	Flanking Active TSS	Stomach Mucosa	stomach

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