Variant report

Variant	rs61138172
Chromosome Location	chr11:17411677-17411678
allele	A/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	BHLHE40	chr11:17411578-17411679	K562	blood:	n/a	n/a
2	YY1	chr11:17410981-17411904	H1-hESC	embryonic stem cell:	n/a	chr11:17411820-17411842 chr11:17411823-17411831 chr11:17411820-17411830 chr11:17411148-17411159 chr11:17411126-17411135 chr11:17411818-17411837
3	CTCF	chr11:17410055-17411834	SK-N-SH	brain:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
4	E2F6	chr11:17410098-17411860	H1-hESC	embryonic stem cell:	n/a	chr11:17410936-17410945 chr11:17410858-17410870
5	POLR2A	chr11:17410456-17411801	Raji	blood:	n/a	n/a
6	MAX	chr11:17410218-17411798	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:17373205..17377100-chr11:17409140..17413152,4	K562	blood:
2	chr11:17411217..17412789-chr11:17465893..17468748,2	MCF-7	breast:
3	chr11:17407664..17411994-chr11:17495609..17498712,4	MCF-7	breast:
4	chr11:17405950..17408117-chr11:17411030..17412540,2	K562	blood:
5	chr11:17409155..17411686-chr11:17415958..17417919,2	MCF-7	breast:
6	chr11:17411046..17413083-chr11:17494986..17496697,2	K562	blood:

Variant related genes	Relation type
KCNJ11	TF binding region
ENSG00000188211	Chromatin interaction
ENSG00000006071	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16934019	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16934040	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57778283	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57988393	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59387171	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60748921	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7112244	0.89[AMR][1000 genomes];1.00[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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467712	chr11:17393644-17418477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv553583	chr11:17393644-17418477	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv517772	chr11:17401134-17427862	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv897018	chr11:17403639-17417337	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv528959	chr11:17403639-17435214	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv540951	chr11:17404438-17422755	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv540952	chr11:17407913-17422755	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv467713	chr11:17408025-17440473	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv553584	chr11:17408025-17440473	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17405200-17412000	Enhancers	Fetal Brain Male	brain
2	chr11:17409600-17411800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:17410200-17411800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:17410400-17411800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:17410400-17411800	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr11:17410400-17411800	Active TSS	Brain Germinal Matrix	brain
7	chr11:17410600-17411800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:17410600-17411800	Active TSS	Brain Hippocampus Middle	brain
9	chr11:17410800-17417200	Weak transcription	Gastric	stomach
10	chr11:17411000-17411800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:17411000-17411800	Flanking Active TSS	Dnd41	blood
12	chr11:17411200-17411800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr11:17411200-17411800	Enhancers	Esophagus	oesophagus
14	chr11:17411200-17411800	Bivalent Enhancer	Placenta	Placenta
15	chr11:17411200-17411800	Enhancers	Lung	lung
16	chr11:17411200-17411800	Flanking Active TSS	Pancreas	Pancrea
17	chr11:17411200-17411800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr11:17411400-17411800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr11:17411400-17411800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:17411400-17411800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:17411400-17411800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr11:17411400-17411800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:17411400-17411800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:17411400-17411800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
25	chr11:17411400-17411800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr11:17411400-17411800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:17411400-17411800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr11:17411400-17411800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:17411400-17411800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:17411400-17411800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:17411400-17411800	Enhancers	Brain Cingulate Gyrus	brain
32	chr11:17411400-17411800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr11:17411400-17411800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr11:17411400-17411800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr11:17411400-17411800	Enhancers	GM12878-XiMat	blood
36	chr11:17411400-17411800	Flanking Active TSS	Hela-S3	cervix
37	chr11:17411400-17411800	Flanking Bivalent TSS/Enh	HepG2	liver
38	chr11:17411400-17411800	Bivalent Enhancer	NHEK	skin
39	chr11:17411400-17412000	Enhancers	Fetal Thymus	thymus
40	chr11:17411400-17416200	Weak transcription	Brain Anterior Caudate	brain
41	chr11:17411400-17422600	Weak transcription	Right Atrium	heart
42	chr11:17411600-17411800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
43	chr11:17411600-17411800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:17411600-17411800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
45	chr11:17411600-17411800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:17411600-17411800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
47	chr11:17411600-17411800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr11:17411600-17411800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:17411600-17411800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr11:17411600-17411800	Enhancers	Primary B cells from cord blood	blood

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