Variant report

Variant	rs6578933
Chromosome Location	chr11:8162022-8162023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10839983	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11041759	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12098876	0.82[AMR][1000 genomes]
rs1406093	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2272384	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3750954	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3750956	0.89[ASN][1000 genomes]
rs3930849	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4758043	0.80[AMR][1000 genomes]
rs4758045	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4758295	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56391723	0.80[AMR][1000 genomes]
rs57845267	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59123180	0.96[ASN][1000 genomes]
rs68084728	0.82[AMR][1000 genomes]
rs68154852	0.82[AMR][1000 genomes]
rs7113581	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9783349	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1048537	chr11:8137353-8196203	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv896981	chr11:8152080-8227964	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1054339	chr11:8153582-8263173	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8128800-8162600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:8132600-8172200	Weak transcription	Pancreas	Pancrea
3	chr11:8133600-8162800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr11:8148400-8169200	Weak transcription	Brain Anterior Caudate	brain
5	chr11:8148800-8170200	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:8149400-8162200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:8149800-8179600	Weak transcription	Brain Substantia Nigra	brain
8	chr11:8150800-8162600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr11:8152200-8162400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:8155200-8166800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:8155800-8163600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:8156000-8189800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:8156400-8163200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:8156600-8163600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:8157800-8162400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:8157800-8162400	Weak transcription	Ovary	ovary
17	chr11:8158000-8169600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:8158200-8162200	Weak transcription	Brain Hippocampus Middle	brain
19	chr11:8158200-8162400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:8158200-8162400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:8158200-8162400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:8158200-8162400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:8158200-8163200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:8158200-8163600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:8158400-8163400	Weak transcription	Brain Angular Gyrus	brain
26	chr11:8158400-8166800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:8159600-8166800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:8160200-8162400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr11:8160600-8162200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:8160800-8166800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:8160800-8168000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:8160800-8188600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:8161800-8167000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:8162000-8162200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr11:8162000-8172400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:8162000-8189400	Weak transcription	Primary B cells from peripheral blood	blood

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