Variant report

Variant	rs3943572
Chromosome Location	chr11:92930316-92930317
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	chr11:92930280..92930897-chr13:21750350..21750876,2	NB4	blood:

Variant related genes	Relation type
ENSG00000173141	Chromatin interaction
ENSG00000165480	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10830986	0.88[ASN][1000 genomes]
rs10830987	0.86[ASN][1000 genomes]
rs10830990	0.87[ASN][1000 genomes]
rs10830992	0.88[ASN][1000 genomes]
rs10830993	0.88[ASN][1000 genomes]
rs10830995	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.87[MKK][hapmap];0.91[ASN][1000 genomes]
rs10830997	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.87[MKK][hapmap];0.91[ASN][1000 genomes]
rs10830999	0.91[ASN][1000 genomes]
rs10831000	0.89[ASN][1000 genomes]
rs10831001	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10831002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10831007	0.92[ASN][1000 genomes]
rs11020180	0.86[ASN][1000 genomes]
rs11020183	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11020189	0.88[ASN][1000 genomes]
rs11020190	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.89[MKK][hapmap];0.91[ASN][1000 genomes]
rs11020191	0.89[ASN][1000 genomes]
rs11020192	0.91[ASN][1000 genomes]
rs11020196	0.94[ASN][1000 genomes]
rs11020197	0.94[ASN][1000 genomes]
rs11020198	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11020199	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11020200	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11020204	0.82[ASN][1000 genomes]
rs11020206	0.88[ASN][1000 genomes]
rs11020207	0.86[ASN][1000 genomes]
rs11020208	0.90[ASN][1000 genomes]
rs12221889	0.86[ASN][1000 genomes]
rs12365990	1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1446915	0.81[ASN][1000 genomes]
rs1446916	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16918625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16918677	0.89[ASN][1000 genomes]
rs2121467	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2166583	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2399605	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3758676	0.88[ASN][1000 genomes]
rs3957618	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4753437	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4753438	0.90[ASN][1000 genomes]
rs4753439	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58121936	0.90[ASN][1000 genomes]
rs66763553	0.82[ASN][1000 genomes]
rs67573258	0.86[ASN][1000 genomes]
rs7111174	0.87[CHB][hapmap]
rs7121033	0.89[ASN][1000 genomes]
rs7121713	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs753517	0.87[CHB][hapmap]
rs7933585	0.94[ASN][1000 genomes]
rs7933922	0.92[ASN][1000 genomes]
rs7936669	0.91[ASN][1000 genomes]
rs7936931	0.92[ASN][1000 genomes]
rs935447	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs935448	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv898176	chr11:92877533-92965312	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898177	chr11:92877533-92971874	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv898178	chr11:92881933-92949447	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv898179	chr11:92881933-92956873	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv818858	chr11:92898342-92932229	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv2757465	chr11:92898342-92934137	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv2759853	chr11:92898342-92934137	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv2829957	chr11:92915544-92932229	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	esv33564	chr11:92918600-92936545	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92921600-92930400	Weak transcription	Lung	lung
2	chr11:92925600-92930400	Weak transcription	Gastric	stomach
3	chr11:92928600-92930400	Flanking Active TSS	Dnd41	blood
4	chr11:92928800-92930400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:92928800-92931800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:92929800-92930400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:92929800-92930600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr11:92929800-92930800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr11:92929800-92930800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr11:92929800-92931000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:92929800-92931400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:92929800-92931600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr11:92929800-92931600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:92929800-92931600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr11:92929800-92931600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr11:92929800-92931600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr11:92929800-92931600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:92929800-92931600	Active TSS	Muscle Satellite Cultured Cells	--
19	chr11:92929800-92931600	Active TSS	Brain Anterior Caudate	brain
20	chr11:92929800-92931600	Active TSS	Brain Hippocampus Middle	brain
21	chr11:92929800-92931600	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr11:92929800-92931600	Active TSS	A549	lung
23	chr11:92929800-92931600	Active TSS	GM12878-XiMat	blood
24	chr11:92929800-92931800	Active TSS	H1 Cell Line	embryonic stem cell
25	chr11:92929800-92931800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:92929800-92931800	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr11:92929800-92931800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:92929800-92931800	Active TSS	Brain Angular Gyrus	brain
29	chr11:92929800-92931800	Active TSS	Brain Germinal Matrix	brain
30	chr11:92929800-92931800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr11:92929800-92931800	Active TSS	Fetal Lung	lung
32	chr11:92929800-92931800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr11:92929800-92931800	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr11:92929800-92931800	Active TSS	Thymus	Thymus
35	chr11:92929800-92932000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:92929800-92932000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:92929800-92932000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr11:92929800-92932000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr11:92929800-92932000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:92929800-92932000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr11:92929800-92932000	Active TSS	NHLF	lung
42	chr11:92930000-92930400	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr11:92930000-92930400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:92930000-92930400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr11:92930000-92930400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr11:92930000-92930400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr11:92930000-92930400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:92930000-92930400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr11:92930000-92930400	Flanking Active TSS	Fetal Brain Female	brain
50	chr11:92930000-92930400	Flanking Active TSS	Fetal Intestine Large	intestine

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