Variant report

Variant	rs5222
Chromosome Location	chr11:17410283-17410284
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	UBTF	chr11:17410204-17411373	K562	blood:	n/a	n/a
2	E2F6	chr11:17410175-17410953	K562	blood:	n/a	chr11:17410936-17410945 chr11:17410858-17410870
3	POLR2A	chr11:17410178-17410333	K562	blood:	n/a	n/a
4	MAZ	chr11:17410178-17411511	IMR90	lung:	n/a	n/a
5	CTCF	chr11:17410055-17411834	SK-N-SH	brain:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
6	MAX	chr11:17410249-17410406	K562	blood:	n/a	n/a
7	CTCF	chr11:17410232-17411175	MCF-7	breast:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
8	MAX	chr11:17410149-17411382	HepG2	liver:	n/a	n/a
9	MAX	chr11:17410143-17411389	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr11:17410098-17411860	H1-hESC	embryonic stem cell:	n/a	chr11:17410936-17410945 chr11:17410858-17410870
11	CTCF	chr11:17410220-17410370	HCT-116	colon:	n/a	n/a
12	ZBTB7A	chr11:17410114-17411122	ECC-1	luminal epithelium:	n/a	chr11:17410457-17410466
13	CTCF	chr11:17410122-17411572	A549	lung:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
14	E2F6	chr11:17410117-17410552	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr11:17410180-17410330	A549	lung:	n/a	n/a
16	CTCF	chr11:17410260-17410410	GM12872	blood:	n/a	n/a
17	CTCF	chr11:17410220-17410370	HRE	kidney:	n/a	n/a
18	CTCF	chr11:17410183-17410701	K562	blood:	n/a	n/a
19	CTCF	chr11:17410140-17410290	AG04449	skin:	n/a	n/a
20	MAX	chr11:17410218-17411798	MCF-7	breast:	n/a	n/a
21	CTCF	chr11:17410260-17410410	GM06990	blood:	n/a	n/a
22	RCOR1	chr11:17410168-17411540	IMR90	lung:	n/a	n/a
23	ZBTB7A	chr11:17410077-17410690	ECC-1	luminal epithelium:	n/a	chr11:17410457-17410466
24	MAZ	chr11:17410210-17411373	K562	blood:	n/a	n/a
25	E2F6	chr11:17410196-17411182	K562	blood:	n/a	chr11:17410936-17410945 chr11:17410858-17410870
26	MAX	chr11:17410216-17411424	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:17373205..17377100-chr11:17409140..17413152,4	K562	blood:
2	chr11:17407664..17411994-chr11:17495609..17498712,4	MCF-7	breast:
3	chr11:17407926..17410738-chr11:17427633..17429679,2	MCF-7	breast:
4	chr11:17409155..17411686-chr11:17415958..17417919,2	MCF-7	breast:

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

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1002227	0.91[ASN][1000 genomes]
rs10734253	0.94[ASN][1000 genomes]
rs10766392	0.90[ASN][1000 genomes]
rs10766393	0.91[ASN][1000 genomes]
rs10766395	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10766396	0.84[ASN][1000 genomes]
rs10832784	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10832785	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11024273	0.93[ASN][1000 genomes]
rs1557764	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2074313	0.94[ASN][1000 genomes]
rs2214295	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2285676	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35762444	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3741203	0.91[ASN][1000 genomes]
rs5210	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7112030	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7112138	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs886288	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9633836	0.91[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	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17395600-17410400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:17403000-17410400	Weak transcription	Aorta	Aorta
3	chr11:17403800-17410400	Weak transcription	HSMMtube	muscle
4	chr11:17405200-17412000	Enhancers	Fetal Brain Male	brain
5	chr11:17407800-17410400	Enhancers	Fetal Heart	heart
6	chr11:17409600-17411400	Active TSS	Brain Anterior Caudate	brain
7	chr11:17409600-17411800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:17409800-17411400	Active TSS	Psoas Muscle	Psoas
9	chr11:17410000-17410400	Enhancers	GM12878-XiMat	blood
10	chr11:17410000-17411400	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr11:17410000-17411600	Active TSS	Fetal Brain Female	brain
12	chr11:17410200-17410400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr11:17410200-17410400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:17410200-17410400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:17410200-17410400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:17410200-17410400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr11:17410200-17410400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr11:17410200-17410400	Enhancers	Primary B cells from cord blood	blood
19	chr11:17410200-17410400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
20	chr11:17410200-17410400	Active TSS	Primary hematopoietic stem cells	blood
21	chr11:17410200-17410400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr11:17410200-17410400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr11:17410200-17410400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr11:17410200-17410400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:17410200-17410400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:17410200-17410400	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr11:17410200-17410400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
28	chr11:17410200-17410400	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr11:17410200-17410400	Flanking Active TSS	Esophagus	oesophagus
30	chr11:17410200-17410400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr11:17410200-17410400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
32	chr11:17410200-17410400	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr11:17410200-17410400	Enhancers	Fetal Thymus	thymus
34	chr11:17410200-17410400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
35	chr11:17410200-17410400	Flanking Active TSS	Thymus	Thymus
36	chr11:17410200-17410400	Flanking Active TSS	A549	lung
37	chr11:17410200-17410400	Flanking Active TSS	Hela-S3	cervix
38	chr11:17410200-17410400	Flanking Active TSS	HepG2	liver
39	chr11:17410200-17410400	Enhancers	HMEC	breast
40	chr11:17410200-17410400	Enhancers	HUVEC	blood vessel
41	chr11:17410200-17410600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:17410200-17410600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:17410200-17410600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:17410200-17410600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
45	chr11:17410200-17410600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
46	chr11:17410200-17410600	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr11:17410200-17410600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr11:17410200-17410600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr11:17410200-17410600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr11:17410200-17410600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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