Variant report

Variant	rs11234445
Chromosome Location	chr11:85565961-85565962
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	CHD2	chr11:85565524-85566158	HepG2	liver:	n/a	n/a
2	YY1	chr11:85565448-85566143	ECC-1	luminal epithelium:	n/a	chr11:85566015-85566029 chr11:85566101-85566112 chr11:85566015-85566024 chr11:85566018-85566027 chr11:85565688-85565698
3	ETS1	chr11:85565825-85566075	K562	blood:	n/a	chr11:85565969-85565978
4	ZMIZ1	chr11:85565655-85566349	K562	blood:	n/a	n/a
5	YY1	chr11:85565499-85566240	SK-N-SH	brain:	n/a	chr11:85566015-85566029 chr11:85566101-85566112 chr11:85566015-85566024 chr11:85566018-85566027 chr11:85565688-85565698
6	RFX5	chr11:85565793-85566310	Hela-S3	cervix:	n/a	chr11:85566133-85566148 chr11:85566133-85566148 chr11:85566133-85566148
7	TCF12	chr11:85565784-85566186	GM12878	blood:	n/a	chr11:85565948-85565955 chr11:85565944-85565954
8	CHD1	chr11:85565504-85566008	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:85565645-85566052	GM12878	blood:	n/a	n/a
10	EP300	chr11:85565878-85566183	SK-N-SH_RA	brain:	n/a	chr11:85566149-85566165
11	MYC	chr11:85565960-85565967	MCF-7	breast:	n/a	n/a
12	YY1	chr11:85565522-85566284	K562	blood:	n/a	chr11:85566015-85566029 chr11:85566101-85566112 chr11:85566015-85566024 chr11:85566018-85566027 chr11:85565688-85565698
13	CTCF	chr11:85565898-85566283	Fibrobl	skin:	n/a	chr11:85566059-85566069 chr11:85566056-85566077 chr11:85566057-85566070 chr11:85566055-85566071 chr11:85566054-85566072 chr11:85566057-85566070
14	MYBL2	chr11:85565692-85566339	HepG2	liver:	n/a	n/a
15	SP1	chr11:85565797-85566247	GM12878	blood:	n/a	chr11:85565980-85565994
16	CTCF	chr11:85565892-85566322	ProgFib	skin:	n/a	chr11:85566059-85566069 chr11:85566056-85566077 chr11:85566057-85566070 chr11:85566055-85566071 chr11:85566054-85566072 chr11:85566057-85566070
17	POLR2A	chr11:85565769-85565978	SK-N-SH	brain:	n/a	n/a
18	NFIC	chr11:85565797-85566136	HepG2	liver:	n/a	n/a
19	TCF12	chr11:85565667-85566263	ECC-1	luminal epithelium:	n/a	chr11:85565948-85565955 chr11:85565944-85565954
20	JUND	chr11:85565730-85566365	K562	blood:	n/a	n/a
21	CTCF	chr11:85565758-85566320	A549	lung:	n/a	chr11:85566059-85566069 chr11:85566056-85566077 chr11:85566057-85566070 chr11:85566055-85566071 chr11:85566054-85566072 chr11:85566057-85566070
22	MAFK	chr11:85565449-85566219	HepG2	liver:	n/a	n/a
23	POLR2A	chr11:85565808-85566033	HepG2	liver:	n/a	n/a
24	BHLHE40	chr11:85565767-85566349	HepG2	liver:	n/a	n/a
25	MAX	chr11:85565476-85566410	HepG2	liver:	n/a	chr11:85566134-85566143
26	CTCF	chr11:85565960-85566110	GM12875	blood:	n/a	chr11:85566059-85566069 chr11:85566056-85566077 chr11:85566057-85566070 chr11:85566055-85566071 chr11:85566054-85566072 chr11:85566057-85566070
27	GABPA	chr11:85565545-85566421	MCF-7	breast:	n/a	n/a
28	E2F6	chr11:85565676-85566229	Hela-S3	cervix:	n/a	chr11:85565985-85565996 chr11:85566018-85566027 chr11:85565984-85565996
29	POLR2A	chr11:85565675-85566279	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr11:85565706-85566215	MCF10A-Er-Src	breast:	n/a	n/a
31	CTCF	chr11:85565903-85566318	Lung_OC	lung:	n/a	chr11:85566059-85566069 chr11:85566056-85566077 chr11:85566057-85566070 chr11:85566055-85566071 chr11:85566054-85566072 chr11:85566057-85566070
32	ZBTB33	chr11:85565659-85566117	A549	lung:	n/a	n/a
33	ELF1	chr11:85565843-85566409	K562	blood:	n/a	chr11:85566015-85566024
34	PML	chr11:85565539-85566234	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:85565639-85566113	ECC-1	luminal epithelium:	n/a	n/a
36	SMC3	chr11:85565715-85566339	K562	blood:	n/a	chr11:85566056-85566063 chr11:85566056-85566070
37	CTCF	chr11:85565927-85566240	GM20000	blood:	n/a	chr11:85566059-85566069 chr11:85566056-85566077 chr11:85566057-85566070 chr11:85566055-85566071 chr11:85566054-85566072 chr11:85566057-85566070
38	EP300	chr11:85565769-85566343	H1-hESC	embryonic stem cell:	n/a	chr11:85566149-85566165
39	TBP	chr11:85565709-85566380	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr11:85565603-85566095	H1-hESC	embryonic stem cell:	n/a	n/a
41	IRF4	chr11:85565810-85566154	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:85565672-85566395	Gliobla	brain:	n/a	n/a
43	CTCF	chr11:85565940-85566090	SAEC	small airway:	n/a	chr11:85566059-85566069 chr11:85566056-85566077 chr11:85566057-85566070 chr11:85566055-85566071 chr11:85566054-85566072 chr11:85566057-85566070
44	PAX5	chr11:85565834-85566185	GM12878	blood:	n/a	chr11:85566022-85566031
45	POLR2A	chr11:85565768-85566061	GM12878	blood:	n/a	n/a
46	CTCF	chr11:85565889-85566216	A549	lung:	n/a	chr11:85566059-85566069 chr11:85566056-85566077 chr11:85566057-85566070 chr11:85566055-85566071 chr11:85566054-85566072 chr11:85566057-85566070
47	POLR2A	chr11:85565779-85566044	A549	lung:	n/a	n/a
48	CTCF	chr11:85565312-85566601	A549	lung:	n/a	chr11:85566059-85566069 chr11:85566056-85566077 chr11:85566057-85566070 chr11:85566055-85566071 chr11:85566054-85566072 chr11:85566057-85566070
49	CTCF	chr11:85565787-85566444	H1-hESC	embryonic stem cell:	n/a	chr11:85566059-85566069 chr11:85566056-85566077 chr11:85566057-85566070 chr11:85566055-85566071 chr11:85566054-85566072 chr11:85566057-85566070
50	SIN3AK20	chr11:85565849-85566127	PFSK-1	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:85565930-85565980	GM12892	blood:	n/a
2	chr11:85565930-85565980	SKMC	muscle:	n/a
3	chr11:85565930-85565980	H1-hESC	embryonic stem cell:	embryo
4	chr11:85565930-85565980	Caco-2	colon:	n/a
5	chr11:85565930-85565980	K562	blood:	n/a
6	chr11:85565930-85565980	AoSMC	blood vessel:	n/a
7	chr11:85565930-85565980	SK-N-MC	brain:	n/a
8	chr11:85565930-85565980	BJ	skin:	n/a
9	chr11:85565930-85565980	Hela-S3	cervix:	n/a
10	chr11:85565930-85565980	RPTEC	kidney:	n/a
11	chr11:85565930-85565980	SAEC	small airway:	n/a
12	chr11:85565930-85565980	HPAEpiC	pulmonary alveolar:	n/a
13	chr11:85565930-85565980	Jurkat	blood:	n/a
14	chr11:85565930-85565980	Hepatocyte	liver:	n/a
15	chr11:85565930-85565980	AG04449	skin:	fetal
16	chr11:85565930-85565980	ECC-1	luminal epithelium:	n/a
17	chr11:85565930-85565980	NB4	blood:	n/a
18	chr11:85565930-85565980	GM12878	blood:	n/a
19	chr11:85565930-85565980	SK-N-SH_RA	brain:	n/a
20	chr11:85565930-85565980	NHDF-neo	bronchial:	n/a
21	chr11:85565930-85565980	GM19239	blood:	n/a
22	chr11:85565930-85565980	HRE	kidney:	n/a
23	chr11:85565930-85565980	HepG2	liver:	n/a
24	chr11:85565930-85565980	HCPEpiC	choroid plexus:	n/a
25	chr11:85565930-85565980	HEEpiC	esophagus:	n/a
26	chr11:85565930-85565980	HAEpiC	amniotic membrane:	n/a
27	chr11:85565930-85565980	NH-A	brain:	n/a
28	chr11:85565930-85565980	T-47D	breast:	n/a
29	chr11:85565930-85565980	GM06990	blood:	n/a
30	chr11:85565930-85565980	PANC-1	pancreas:	n/a
31	chr11:85565930-85565980	HRCEpiC	kidney:	n/a
32	chr11:85565930-85565980	PFSK-1	brain:	n/a
33	chr11:85565930-85565980	AG09309	skin:	n/a
34	chr11:85565930-85565980	AG09319	gingival:	n/a
35	chr11:85565930-85565980	AG10803	skin:	n/a
36	chr11:85565930-85565980	ProgFib	skin:	n/a
37	chr11:85565930-85565980	HNPCEpiC	eye:	n/a
38	chr11:85565930-85565980	HEK293	kidney:	embryo
39	chr11:85565930-85565980	MCF10A-Er-Src	breast:	n/a
40	chr11:85565930-85565980	PrEC	prostate:	n/a
41	chr11:85565930-85565980	SK-N-SH	brain:	n/a
42	chr11:85565930-85565980	HIPEpiC	eye:	n/a
43	chr11:85565930-85565980	BE2_C	brain:	n/a
44	chr11:85565930-85565980	AG04450	lung:	fetal
45	chr11:85565930-85565980	GM12891	blood:	n/a
46	chr11:85565930-85565980	HCF	heart:	n/a
47	chr11:85565930-85565980	HRPEpiC	eye:	n/a
48	chr11:85565930-85565980	HCM	heart:	n/a
49	chr11:85565930-85565980	MCF-7	breast:	n/a
50	chr11:85565930-85565980	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85564358..85567668-chr11:85954757..85957283,3	MCF-7	breast:
2	chr11:85520161..85523649-chr11:85564385..85567428,4	MCF-7	breast:

Variant related genes	Relation type
CCDC83	TF binding region
CCDC83	CpG island
ENSG00000074266	Chromatin interaction
ENSG00000137501	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10898422	0.95[EUR][1000 genomes]
rs11234436	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11234437	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11234442	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11234448	0.88[EUR][1000 genomes]
rs11234455	0.91[AMR][1000 genomes]
rs11234460	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11234461	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12360932	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12362209	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12363624	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17209169	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv832222	chr11:85405712-85603981	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1047147	chr11:85459235-85594800	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv541114	chr11:85459235-85594800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
10	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv898051	chr11:85554057-85620823	Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85564800-85566200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:85565000-85566000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:85565000-85566400	Active TSS	Fetal Lung	lung
4	chr11:85565000-85566400	Active TSS	Ovary	ovary
5	chr11:85565000-85566400	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr11:85565000-85566800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:85565200-85566200	Active TSS	Primary T cells from cord blood	blood
8	chr11:85565200-85566200	Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr11:85565200-85566200	Active TSS	Fetal Intestine Small	intestine
10	chr11:85565200-85566200	Active TSS	Fetal Muscle Leg	muscle
11	chr11:85565200-85566400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:85565200-85566400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:85565200-85566400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr11:85565200-85566400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:85565200-85566400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr11:85565200-85566400	Active TSS	Fetal Kidney	kidney
17	chr11:85565200-85566400	Active TSS	Fetal Stomach	stomach
18	chr11:85565200-85566400	Active TSS	A549	lung
19	chr11:85565200-85566400	Active TSS	NHLF	lung
20	chr11:85565200-85566600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr11:85565200-85566600	Flanking Active TSS	HMEC	breast
22	chr11:85565200-85566800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:85565400-85566000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:85565400-85566000	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr11:85565400-85566000	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr11:85565400-85566000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr11:85565400-85566000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:85565400-85566000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:85565400-85566000	ZNF genes & repeats	Fetal Brain Male	brain
30	chr11:85565400-85566000	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr11:85565400-85566000	Active TSS	Stomach Mucosa	stomach
32	chr11:85565400-85566000	Flanking Active TSS	Hela-S3	cervix
33	chr11:85565400-85566000	Flanking Active TSS	K562	blood
34	chr11:85565400-85566200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:85565400-85566200	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr11:85565400-85566200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:85565400-85566200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr11:85565400-85566200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:85565400-85566200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:85565400-85566200	Active TSS	Duodenum Mucosa	Duodenum
41	chr11:85565400-85566200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr11:85565400-85566200	Active TSS	Fetal Intestine Large	intestine
43	chr11:85565400-85566200	Active TSS	Fetal Muscle Trunk	muscle
44	chr11:85565400-85566200	Active TSS	Placenta	Placenta
45	chr11:85565400-85566200	Active TSS	Fetal Thymus	thymus
46	chr11:85565400-85566200	Active TSS	Placenta Amnion	Placenta Amnion
47	chr11:85565400-85566200	Active TSS	Stomach Smooth Muscle	stomach
48	chr11:85565400-85566400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:85565400-85566400	Active TSS	Aorta	Aorta
50	chr11:85565400-85566400	Active TSS	Brain Angular Gyrus	brain

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