Variant report

Variant	rs2028807
Chromosome Location	chr11:85565397-85565398
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	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
2	RAD21	chr11:85565322-85566814	SK-N-SH	brain:	n/a	chr11:85566055-85566074 chr11:85566056-85566070
3	POLR2A	chr11:85564787-85565411	Hela-S3	cervix:	n/a	n/a
4	CHD1	chr11:85565350-85566949	IMR90	lung:	n/a	n/a
5	TCF12	chr11:85565318-85566369	A549	lung:	n/a	chr11:85565948-85565955 chr11:85565944-85565954
6	POLR2A	chr11:85565343-85566440	PANC-1	pancreas:	n/a	n/a
7	E2F6	chr11:85565360-85566319	A549	lung:	n/a	chr11:85565985-85565996 chr11:85566018-85566027 chr11:85565984-85565996
8	SIN3AK20	chr11:85565337-85566596	MCF-7	breast:	n/a	n/a
9	SMC3	chr11:85565372-85567017	SK-N-SH	brain:	n/a	chr11:85566056-85566063 chr11:85566414-85566422 chr11:85566056-85566070
10	MAZ	chr11:85565216-85566775	IMR90	lung:	n/a	chr11:85566134-85566143
11	MAX	chr11:85565282-85566483	A549	lung:	n/a	chr11:85566134-85566143
12	POLR2A	chr11:85565275-85566315	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr11:85565382-85566040	HL-60	blood:	n/a	chr11:85566027-85566040
14	MXI1	chr11:85565352-85566622	IMR90	lung:	n/a	chr11:85566132-85566147 chr11:85566134-85566149
15	FOSL2	chr11:85565286-85566168	A549	lung:	n/a	chr11:85565520-85565529
16	HCFC1	chr11:85565376-85566416	Hela-S3	cervix:	n/a	n/a
17	YY1	chr11:85565353-85565847	GM12892	blood:	n/a	chr11:85565688-85565698
18	YY1	chr11:85565368-85566031	HepG2	liver:	n/a	chr11:85566015-85566029 chr11:85566015-85566024 chr11:85566018-85566027 chr11:85565688-85565698
19	YY1	chr11:85565317-85566308	GM12878	blood:	n/a	chr11:85566015-85566029 chr11:85566101-85566112 chr11:85566015-85566024 chr11:85566018-85566027 chr11:85565688-85565698

No.	Distal block	Cell Line	Cell type
1	chr11:85564358..85567668-chr11:85954757..85957283,3	MCF-7	breast:
2	chr11:85519803..85521941-chr11:85564201..85565920,2	MCF-7	breast:
3	chr11:85555610..85557343-chr11:85563252..85565662,2	MCF-7	breast:
4	chr11:85520161..85523649-chr11:85564385..85567428,4	MCF-7	breast:

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

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10501598	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11606818	0.88[ASN][1000 genomes]
rs3862785	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4944539	0.88[ASN][1000 genomes]
rs67821335	0.92[AFR][1000 genomes];0.92[ASN][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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85556600-85565400	Weak transcription	Hela-S3	cervix
2	chr11:85561800-85565400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:85562000-85565600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:85563600-85565600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:85563600-85565600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:85563600-85565600	Weak transcription	Pancreas	Pancrea
7	chr11:85564200-85565400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:85564200-85565400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:85564200-85565600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:85564400-85565400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:85564800-85565400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:85564800-85565400	Weak transcription	Esophagus	oesophagus
13	chr11:85564800-85566200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:85565000-85565400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr11:85565000-85565400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:85565000-85565400	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr11:85565000-85565400	Enhancers	Dnd41	blood
18	chr11:85565000-85565400	Active TSS	HSMM	muscle
19	chr11:85565000-85566000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:85565000-85566400	Active TSS	Fetal Lung	lung
21	chr11:85565000-85566400	Active TSS	Ovary	ovary
22	chr11:85565000-85566400	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr11:85565000-85566800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:85565200-85565400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:85565200-85565400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:85565200-85565400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr11:85565200-85565400	Enhancers	Primary B cells from cord blood	blood
28	chr11:85565200-85565400	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:85565200-85565400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:85565200-85565400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:85565200-85565400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:85565200-85565400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr11:85565200-85565400	Active TSS	Muscle Satellite Cultured Cells	--
34	chr11:85565200-85565400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr11:85565200-85565400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:85565200-85565400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:85565200-85565400	Active TSS	Adipose Nuclei	Adipose
38	chr11:85565200-85565400	Enhancers	Liver	Liver
39	chr11:85565200-85565400	Enhancers	Brain Cingulate Gyrus	brain
40	chr11:85565200-85565400	Active TSS	GM12878-XiMat	blood
41	chr11:85565200-85565400	Enhancers	K562	blood
42	chr11:85565200-85565400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr11:85565200-85565400	Enhancers	NHEK	skin
44	chr11:85565200-85565600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr11:85565200-85565600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr11:85565200-85565600	Flanking Active TSS	Osteobl	bone
47	chr11:85565200-85565800	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr11:85565200-85565800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr11:85565200-85565800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr11:85565200-85565800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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