Variant report

Variant	esv3399706
Chromosome Location	chr11:3856534-3857089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:3855670-3856589	K562	blood:	n/a	n/a
2	ATF1	chr11:3855828-3856648	K562	blood:	n/a	n/a
3	BHLHE40	chr11:3855725-3856592	K562	blood:	n/a	n/a
4	CBX3	chr11:3855475-3856829	K562	blood:	n/a	n/a
5	CCNT2	chr11:3855670-3856653	K562	blood:	n/a	chr11:3856009-3856018
6	CEBPB	chr11:3855798-3856595	K562	blood:	n/a	n/a
7	CEBPB	chr11:3856343-3856585	IMR90	lung:	n/a	n/a
8	CEBPD	chr11:3855638-3856719	K562	blood:	n/a	n/a
9	CHD2	chr11:3856444-3856751	K562	blood:	n/a	n/a
10	CUX1	chr11:3855724-3856558	K562	blood:	n/a	n/a
11	E2F4	chr11:3856721-3856877	MCF10A-Er-Src	breast:	n/a	n/a
12	ELF1	chr11:3855614-3856887	K562	blood:	n/a	n/a
13	EP300	chr11:3855592-3857135	K562	blood:	n/a	chr11:3855691-3855704
14	EP300	chr11:3856993-3856999	GM12878	blood:	n/a	n/a
15	FOS	chr11:3856350-3856600	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:3856363-3856642	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr11:3856381-3856608	MCF10A-Er-Src	breast:	n/a	n/a
18	GATA1	chr11:3855488-3856579	PBDE	blood:	n/a	chr11:3855851-3855859 chr11:3856032-3856045
19	GATA2	chr11:3855762-3856589	K562	blood:	n/a	chr11:3855851-3855859 chr11:3856032-3856045
20	GATA2	chr11:3856331-3856805	HUVEC	blood vessel:	n/a	n/a
21	GATA2	chr11:3855678-3856594	K562	blood:	n/a	chr11:3855851-3855859 chr11:3856032-3856045
22	HCFC1	chr11:3855711-3856633	K562	blood:	n/a	n/a
23	IRF1	chr11:3855712-3856863	K562	blood:	n/a	chr11:3855790-3855799
24	IRF1	chr11:3855432-3856651	K562	blood:	n/a	chr11:3855790-3855799
25	JUN	chr11:3855666-3856968	K562	blood:	n/a	n/a
26	JUND	chr11:3855665-3856924	K562	blood:	n/a	n/a
27	MAFK	chr11:3855598-3856660	K562	blood:	n/a	n/a
28	MAX	chr11:3856843-3857296	K562	blood:	n/a	n/a
29	MAX	chr11:3856186-3856608	K562	blood:	n/a	n/a
30	MAX	chr11:3855724-3856629	K562	blood:	n/a	n/a
31	MAX	chr11:3857048-3857272	NB4	blood:	n/a	n/a
32	MAZ	chr11:3855600-3856709	K562	blood:	n/a	n/a
33	MTA3	chr11:3856103-3857039	GM12878	blood:	n/a	n/a
34	MYC	chr11:3855509-3856682	K562	blood:	n/a	n/a
35	MYC	chr11:3857044-3857300	NB4	blood:	n/a	n/a
36	MYC	chr11:3855689-3856733	K562	blood:	n/a	n/a
37	NR2F2	chr11:3855379-3857159	K562	blood:	n/a	n/a
38	NR2F2	chr11:3855692-3856579	K562	blood:	n/a	n/a
39	PML	chr11:3855672-3856556	K562	blood:	n/a	n/a
40	PML	chr11:3855619-3856917	K562	blood:	n/a	n/a
41	POLR2A	chr11:3855444-3857066	K562	blood:	n/a	n/a
42	POLR2A	chr11:3855391-3857384	HL-60	blood:	n/a	n/a
43	POLR2A	chr11:3856222-3856832	K562	blood:	n/a	n/a
44	POLR2A	chr11:3856129-3856690	GM12892	blood:	n/a	n/a
45	POLR2A	chr11:3856682-3857021	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:3856754-3856762	HepG2	liver:	n/a	n/a
47	POLR2A	chr11:3855271-3857405	HL-60	blood:	n/a	n/a
48	POLR2A	chr11:3855265-3857252	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:3856362-3856687	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr11:3855363-3857271	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:3856690..3859651-chr11:3923487..3926429,2	K562	blood:
2	chr11:3856690..3859651-chr11:3923487..3926429,3	K562	blood:
3	chr11:3855651..3858581-chr11:3874528..3876405,2	K562	blood:
4	chr11:3855085..3856960-chr11:3875832..3877363,2	K562	blood:
5	chr11:3856228..3857746-chr11:4093226..4096203,2	K562	blood:
6	chr11:3830424..3832547-chr11:3854238..3857029,2	K562	blood:
7	chr11:3853798..3856714-chr11:3858547..3860187,2	MCF-7	breast:
8	chr11:3815959..3820545-chr11:3854514..3864703,12	K562	blood:
9	chr11:3855443..3857782-chr11:3869074..3871909,2	K562	blood:
10	chr11:3856186..3858258-chr11:3896154..3898858,2	K562	blood:
11	chr11:3815959..3818805-chr11:3854907..3857637,4	K562	blood:

No data

Variant related genes	Relation type
RHOG	TF binding region
ENSG00000263421	chromatin interactions
ENSG00000110713	chromatin interactions
ENSG00000229368	chromatin interactions
ENSG00000148985	chromatin interactions
ENSG00000177105	chromatin interactions
ENSG00000228661	chromatin interactions
ENSG00000167323	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1451722	chr11:3856553-3856554	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs1451723	chr11:3856593-3856594	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551682340	chr11:3856663-3856664	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs567137554	chr11:3856664-3856665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs1451724	chr11:3856668-3856669	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs117640293	chr11:3856743-3856744	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs112287451	chr11:3856773-3856774	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs74050302	chr11:3856810-3856811	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11029997	chr11:3856876-3856877	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs539710346	chr11:3856892-3856893	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs55633079	chr11:3856928-3856929	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs571285485	chr11:3856944-3856945	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs538812770	chr11:3856963-3856964	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs187576600	chr11:3856964-3856965	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs114721964	chr11:3856974-3856975	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs542947476	chr11:3856975-3856976	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs555758721	chr11:3856984-3856985	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs574099801	chr11:3857000-3857001	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs544689478	chr11:3857023-3857024	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs113087943	chr11:3857045-3857046	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs527821779	chr11:3857065-3857066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs141968264	chr11:3857067-3857068	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs370779446	chr11:3857068-3857069	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs545573384	chr11:3857074-3857075	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs143297597	chr11:3857080-3857081	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs76905884	chr11:3857087-3857088	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3830600-3861000	Weak transcription	Fetal Kidney	kidney
2	chr11:3844000-3857000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:3844800-3857000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:3848400-3861000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:3848600-3858200	Weak transcription	NHDF-Ad	bronchial
6	chr11:3849400-3859000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:3849600-3861000	Weak transcription	HSMMtube	muscle
8	chr11:3851600-3857200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:3852000-3856600	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr11:3852000-3858600	Enhancers	Brain Anterior Caudate	brain
11	chr11:3852200-3857000	Genic enhancers	Spleen	Spleen
12	chr11:3852200-3859800	Enhancers	Right Ventricle	heart
13	chr11:3852200-3860800	Enhancers	Small Intestine	intestine
14	chr11:3852400-3857200	Genic enhancers	Fetal Thymus	thymus
15	chr11:3852400-3859800	Weak transcription	Fetal Brain Female	brain
16	chr11:3852600-3857800	Transcr. at gene 5' and 3'	K562	blood
17	chr11:3852600-3860400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
18	chr11:3852800-3856800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr11:3853000-3858200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:3853000-3858200	Enhancers	Brain Cingulate Gyrus	brain
21	chr11:3853600-3859000	Genic enhancers	Fetal Intestine Small	intestine
22	chr11:3853600-3860800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:3853800-3856600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
24	chr11:3854200-3860000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:3854600-3857000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr11:3854600-3858800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
27	chr11:3854600-3860200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr11:3854600-3860800	Enhancers	Placenta	Placenta
29	chr11:3854800-3857200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:3854800-3857400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
31	chr11:3854800-3857600	Strong transcription	NHLF	lung
32	chr11:3854800-3857800	Genic enhancers	Dnd41	blood
33	chr11:3855000-3857000	Enhancers	Right Atrium	heart
34	chr11:3855000-3857200	Genic enhancers	NHEK	skin
35	chr11:3855000-3857400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:3855000-3857400	Enhancers	Fetal Intestine Large	intestine
37	chr11:3855000-3860600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr11:3855200-3856800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:3855200-3857200	Enhancers	Psoas Muscle	Psoas
40	chr11:3855200-3857200	Genic enhancers	HMEC	breast
41	chr11:3855200-3859400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:3855200-3860600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr11:3855200-3860800	Enhancers	Brain Angular Gyrus	brain
44	chr11:3855200-3862000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:3855400-3857000	Genic enhancers	Lung	lung
46	chr11:3855400-3857200	Enhancers	H9 Cell Line	embryonic stem cell
47	chr11:3855400-3857800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr11:3855400-3857800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells	blood
49	chr11:3855400-3860600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr11:3855400-3861000	Enhancers	HUES6 Cell Line	embryonic stem cell

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