Variant report

Variant	rs7936441
Chromosome Location	chr11:5726412-5726413
allele	A/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	STAT3	chr11:5726343-5726671	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:5033143-5038367..11:5721056-5732713	GM12878	blood:
2	11:4957178-4961904..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
3	11:4988858-5002113..11:5721056-5732713	Hela-S3	cervix:
4	11:5087036-5092291..11:5721056-5732713	K562	blood:
5	11:5488942-5494633..11:5721056-5732713	H1-hESC	embryonic stem cell:	embryo
6	11:5586716-5591774..11:5721056-5732713	GM12878	blood:

Variant related genes	Relation type
TRIM22	TF binding region
ENSG00000225003	Chromatin interaction
ENSG00000230484	Chromatin interaction
ENSG00000273085	Chromatin interaction
ENSG00000233646	Chromatin interaction
ENSG00000224300	Chromatin interaction
ENSG00000227023	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10400251	0.93[ASN][1000 genomes]
rs11038865	0.85[EUR][1000 genomes]
rs11038881	0.87[EUR][1000 genomes]
rs11038884	0.81[EUR][1000 genomes]
rs11038886	0.81[EUR][1000 genomes]
rs12099036	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12224409	0.85[EUR][1000 genomes]
rs12792180	0.93[ASN][1000 genomes]
rs12792550	0.94[ASN][1000 genomes]
rs12800896	0.99[ASN][1000 genomes]
rs12803433	0.93[ASN][1000 genomes]
rs12805134	0.93[ASN][1000 genomes]
rs1498561	0.87[EUR][1000 genomes]
rs1603796	0.93[ASN][1000 genomes]
rs34279421	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34464178	0.96[ASN][1000 genomes]
rs34559010	0.93[ASN][1000 genomes]
rs34624600	0.96[ASN][1000 genomes]
rs34734399	0.88[ASN][1000 genomes]
rs34772298	0.93[ASN][1000 genomes]
rs34818142	0.99[ASN][1000 genomes]
rs35257755	0.99[ASN][1000 genomes]
rs35378018	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35476279	0.97[ASN][1000 genomes]
rs35725436	0.96[ASN][1000 genomes]
rs36092957	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36173363	0.92[ASN][1000 genomes]
rs4457786	0.93[ASN][1000 genomes]
rs4573706	0.93[ASN][1000 genomes]
rs57610338	0.81[EUR][1000 genomes]
rs57677974	0.85[EUR][1000 genomes]
rs66481907	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67573252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7128460	0.88[EUR][1000 genomes]
rs7130646	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71490147	0.99[ASN][1000 genomes]
rs71490148	0.99[ASN][1000 genomes]
rs73404203	0.86[AFR][1000 genomes]
rs73404206	0.87[AFR][1000 genomes]
rs73404207	0.89[AFR][1000 genomes]
rs73404224	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7925088	0.85[EUR][1000 genomes]
rs7930210	0.86[EUR][1000 genomes]
rs7937241	0.93[ASN][1000 genomes]
rs7949329	0.86[EUR][1000 genomes]
rs7951137	0.81[EUR][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	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer 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	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
10	nsv553277	chr11:5722948-6010075	Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5712400-5730200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr11:5712400-5730600	Weak transcription	Fetal Lung	lung
3	chr11:5712400-5731800	Weak transcription	NH-A	brain
4	chr11:5712400-5732400	Weak transcription	Pancreas	Pancrea
5	chr11:5712400-5732400	Weak transcription	Stomach Mucosa	stomach
6	chr11:5712600-5729200	Weak transcription	Esophagus	oesophagus
7	chr11:5712600-5730200	Weak transcription	NHEK	skin
8	chr11:5712600-5732000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:5712600-5732600	Weak transcription	Colonic Mucosa	Colon
10	chr11:5713000-5734600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:5713600-5730800	Weak transcription	Brain Anterior Caudate	brain
12	chr11:5713600-5734800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:5713600-5745800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:5713800-5729800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:5713800-5731200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:5714000-5732600	Weak transcription	Brain Substantia Nigra	brain
17	chr11:5715200-5733000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:5715800-5729200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:5717400-5732400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:5717400-5734400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:5717600-5731200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr11:5717600-5732600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:5718000-5728800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:5718000-5734600	Weak transcription	HUVEC	blood vessel
25	chr11:5718400-5729000	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:5720000-5727000	Weak transcription	Ovary	ovary
27	chr11:5720000-5727600	Weak transcription	HSMMtube	muscle
28	chr11:5720000-5729200	Weak transcription	Aorta	Aorta
29	chr11:5720000-5729200	Weak transcription	Gastric	stomach
30	chr11:5720000-5729200	Weak transcription	Spleen	Spleen
31	chr11:5720000-5732600	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:5720200-5726600	Weak transcription	Fetal Thymus	thymus
33	chr11:5720200-5728800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:5720200-5729200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:5720200-5729200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:5720200-5730200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr11:5720200-5730600	Weak transcription	Placenta	Placenta
38	chr11:5720200-5731800	Weak transcription	Small Intestine	intestine
39	chr11:5720200-5731800	Weak transcription	NHLF	lung
40	chr11:5720200-5732600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:5720400-5728000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:5720400-5728000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:5720400-5729200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:5720400-5729200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:5720400-5732800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr11:5720600-5727000	Weak transcription	Lung	lung
47	chr11:5720600-5731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr11:5722000-5730400	Strong transcription	NHDF-Ad	bronchial
49	chr11:5722000-5732800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:5722600-5732600	Strong transcription	Primary B cells from peripheral blood	blood

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