Variant report

Variant	esv4734
Chromosome Location	chr11:51567297-51591315
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:205090687..205091190-chr11:51572148..51572834,2	MCF-7	breast:
2	chr11:51590843..51591840-chr2:513508..514508,2	MCF-7	breast:
3	chr11:51570648..51572733-chr18:74448847..74450348,2	K562	blood:
4	chr11:51571654..51572156-chrX:61838804..61839307,2	MCF-7	breast:
5	chr11:51570628..51572150-chr6:149317397..149318917,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C46-2	chr11:51569667-51570142	NONHSAT021350
2	lnc-OR4C46-2	chr11:51575662-51575709	NONHSAT021350
3	lnc-OR4C46-2	chr11:51573408-51573440	NONHSAT021350
4	lnc-OR4A5-3	chr11:51578567-51578806	FPKM1_group_4638_transcript_1
5	lnc-OR4C46-2	chr11:51571014-51571024	NONHSAT021350
6	lnc-OR4A5-3	chr11:51578567-51578806	NONHSAT021351

No data

Variant related genes	Relation type
ENSG00000117222	chromatin interactions

Extended variants
information (count: 4721 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:4721 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7481561	chr11:51567297-51567298	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs573397652	chr11:51567300-51567301	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs61892662	chr11:51567306-51567307	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs61892663	chr11:51567311-51567312	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs76372259	chr11:51567333-51567334	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs61892664	chr11:51567338-51567339	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs540789515	chr11:51567339-51567340	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs562370524	chr11:51567340-51567341	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs74586554	chr11:51567343-51567344	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs574382997	chr11:51567356-51567357	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs147743281	chr11:51567360-51567361	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs150094285	chr11:51567370-51567371	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs146650054	chr11:51567375-51567376	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs530398973	chr11:51567381-51567382	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs61892665	chr11:51567383-51567384	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs372464929	chr11:51567384-51567385	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs74571814	chr11:51567386-51567387	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs563985132	chr11:51567387-51567388	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs528277259	chr11:51567389-51567390	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs7479278	chr11:51567392-51567393	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs7483815	chr11:51567400-51567401	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs7479965	chr11:51567406-51567407	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs550724308	chr11:51567408-51567409	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs569253497	chr11:51567421-51567422	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs146691877	chr11:51567422-51567423	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs558239108	chr11:51567423-51567424	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs573328423	chr11:51567427-51567428	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs534441411	chr11:51567429-51567430	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs71484856	chr11:51567435-51567436	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs80067396	chr11:51567437-51567438	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs78509869	chr11:51567443-51567444	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs112355901	chr11:51567450-51567451	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs574418345	chr11:51567456-51567457	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs11525501	chr11:51567459-51567460	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs11525502	chr11:51567467-51567468	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs151221309	chr11:51567471-51567472	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs575205970	chr11:51567477-51567478	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs112583290	chr11:51567478-51567479	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs564256834	chr11:51567482-51567483	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs61892666	chr11:51567483-51567484	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs11525524	chr11:51567491-51567492	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs139223287	chr11:51567493-51567494	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs185071007	chr11:51567495-51567496	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs35896866	chr11:51567506-51567507	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs11525503	chr11:51567510-51567511	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs61892667	chr11:51567511-51567512	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs61892668	chr11:51567524-51567525	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs200785216	chr11:51567539-51567540	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs529024883	chr11:51567540-51567541	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs201304916	chr11:51567543-51567544	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:799 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:51567200-51567400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:51567200-51567400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:51567200-51567400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
4	chr11:51567200-51567400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:51567200-51567400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
6	chr11:51567200-51567400	ZNF genes & repeats	Aorta	Aorta
7	chr11:51567200-51567400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
8	chr11:51567200-51567400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
9	chr11:51567200-51567400	ZNF genes & repeats	Brain Substantia Nigra	brain
10	chr11:51567200-51567400	ZNF genes & repeats	Esophagus	oesophagus
11	chr11:51567200-51567400	ZNF genes & repeats	Fetal Kidney	kidney
12	chr11:51567200-51567400	ZNF genes & repeats	Placenta	Placenta
13	chr11:51567200-51567400	ZNF genes & repeats	Fetal Thymus	thymus
14	chr11:51567200-51567400	ZNF genes & repeats	Gastric	stomach
15	chr11:51567200-51567400	ZNF genes & repeats	Lung	lung
16	chr11:51567200-51567400	ZNF genes & repeats	Ovary	ovary
17	chr11:51567200-51567400	ZNF genes & repeats	Pancreas	Pancrea
18	chr11:51567200-51567400	Flanking Bivalent TSS/Enh	Right Atrium	heart
19	chr11:51567200-51567400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
20	chr11:51567200-51567400	ZNF genes & repeats	Thymus	Thymus
21	chr11:51567200-51567400	ZNF genes & repeats	Spleen	Spleen
22	chr11:51567200-51567400	ZNF genes & repeats	A549	lung
23	chr11:51567200-51567400	ZNF genes & repeats	GM12878-XiMat	blood
24	chr11:51567200-51567400	ZNF genes & repeats	HSMMtube	muscle
25	chr11:51567200-51567400	ZNF genes & repeats	K562	blood
26	chr11:51567200-51567400	ZNF genes & repeats	NHDF-Ad	bronchial
27	chr11:51567200-51567400	ZNF genes & repeats	NHEK	skin
28	chr11:51567200-51567400	ZNF genes & repeats	NHLF	lung
29	chr11:51567200-51567400	ZNF genes & repeats	Osteobl	bone
30	chr11:51567200-51567600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:51567200-51567600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:51567200-51567600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:51567200-51567600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
34	chr11:51567200-51567600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:51567200-51567600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:51567200-51567600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
37	chr11:51567200-51567600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
38	chr11:51567200-51567600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:51567200-51567600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
40	chr11:51567200-51567600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
41	chr11:51567200-51567600	ZNF genes & repeats	Brain Anterior Caudate	brain
42	chr11:51567200-51567600	ZNF genes & repeats	Brain Hippocampus Middle	brain
43	chr11:51567200-51567600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:51567200-51567600	ZNF genes & repeats	Colonic Mucosa	Colon
45	chr11:51567200-51567600	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr11:51567200-51567600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
47	chr11:51567200-51567600	ZNF genes & repeats	Fetal Heart	heart
48	chr11:51567200-51567600	ZNF genes & repeats	Fetal Lung	lung
49	chr11:51567200-51567600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
50	chr11:51567200-51567600	ZNF genes & repeats	Fetal Muscle Leg	muscle

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