Variant report

Variant	esv16880
Chromosome Location	chr11:51571810-51574251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C46-2	chr11:51573408-51573440	NONHSAT021350

Variant related genes	Relation type
ENSG00000117222	chromatin interactions

Extended variants
information (count: 540 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376751207	chr11:51571810-51571811	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371351056	chr11:51571811-51571812	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148715821	chr11:51571812-51571813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368713614	chr11:51571815-51571816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371422350	chr11:51571816-51571817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374121804	chr11:51571817-51571818	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369865618	chr11:51571819-51571820	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371200865	chr11:51571821-51571822	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7480625	chr11:51571822-51571823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373454804	chr11:51571823-51571824	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559440929	chr11:51571826-51571827	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184512581	chr11:51571830-51571831	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79754712	chr11:51571841-51571842	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542037406	chr11:51571843-51571844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201331256	chr11:51571856-51571857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75635512	chr11:51571858-51571859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370526431	chr11:51571872-51571873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560133797	chr11:51571873-51571874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376467950	chr11:51571879-51571880	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530584697	chr11:51571880-51571881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369251763	chr11:51571881-51571882	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373927791	chr11:51571883-51571884	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376788147	chr11:51571885-51571886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369714428	chr11:51571887-51571888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374538574	chr11:51571896-51571897	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532466787	chr11:51571897-51571898	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180871706	chr11:51571899-51571900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570411146	chr11:51571905-51571906	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368045394	chr11:51571907-51571908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552652354	chr11:51571909-51571910	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111386513	chr11:51571918-51571919	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372039631	chr11:51571923-51571924	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77198430	chr11:51571933-51571934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138899364	chr11:51571936-51571937	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150638040	chr11:51571938-51571939	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568566339	chr11:51571941-51571942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535595917	chr11:51571944-51571945	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144485139	chr11:51571945-51571946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375136408	chr11:51571957-51571958	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200905602	chr11:51571958-51571959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150945235	chr11:51571963-51571964	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569479769	chr11:51571966-51571967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147008767	chr11:51571968-51571969	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141461705	chr11:51571969-51571970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372161862	chr11:51571972-51571973	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139886313	chr11:51571974-51571975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77684386	chr11:51571975-51571976	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147783500	chr11:51571981-51571982	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150150307	chr11:51571982-51571983	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200787881	chr11:51571985-51571986	ZNF genes & repeats Weak transcription	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:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:51567200-51573600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
2	chr11:51567200-51573600	ZNF genes & repeats	Liver	Liver
3	chr11:51567200-51573800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr11:51567200-51575800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:51567200-51576400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:51567200-51576600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr11:51567200-51581200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr11:51567200-51581200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:51567200-51581200	ZNF genes & repeats	Primary T cells from cord blood	blood
10	chr11:51567200-51581200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr11:51567200-51581200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr11:51567200-51581400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:51567200-51583200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr11:51567200-51584000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:51567200-51584000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr11:51567200-51584200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr11:51567200-51584400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr11:51569000-51573600	ZNF genes & repeats	Fetal Stomach	stomach
19	chr11:51570200-51572000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:51570200-51572000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:51570200-51572000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:51570200-51572000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:51570200-51572000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:51570200-51572000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:51570200-51572000	Weak transcription	Aorta	Aorta
26	chr11:51570200-51572000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:51570200-51572000	Weak transcription	Esophagus	oesophagus
28	chr11:51570200-51572000	Weak transcription	Gastric	stomach
29	chr11:51570200-51572000	Weak transcription	Lung	lung
30	chr11:51570200-51572000	Weak transcription	Ovary	ovary
31	chr11:51570200-51572000	Weak transcription	Pancreas	Pancrea
32	chr11:51570200-51572000	Weak transcription	Psoas Muscle	Psoas
33	chr11:51570200-51572000	Weak transcription	Right Atrium	heart
34	chr11:51570200-51572000	Weak transcription	Right Ventricle	heart
35	chr11:51570200-51572000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:51570200-51572000	Weak transcription	Small Intestine	intestine
37	chr11:51570200-51572000	Weak transcription	Stomach Mucosa	stomach
38	chr11:51570200-51572000	Weak transcription	Thymus	Thymus
39	chr11:51570200-51572000	Weak transcription	Spleen	Spleen
40	chr11:51570200-51572000	Weak transcription	GM12878-XiMat	blood
41	chr11:51570200-51572000	Weak transcription	Hela-S3	cervix
42	chr11:51570200-51572000	Weak transcription	HSMM	muscle
43	chr11:51570200-51572000	Weak transcription	HSMMtube	muscle
44	chr11:51570200-51572000	Weak transcription	K562	blood
45	chr11:51570200-51572000	Weak transcription	NHDF-Ad	bronchial
46	chr11:51570200-51572000	Weak transcription	NHLF	lung
47	chr11:51570200-51573200	Weak transcription	NHEK	skin
48	chr11:51570400-51572000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:51570400-51572000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:51570400-51572000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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