Variant report

Variant	nsv897017
Chromosome Location	chr11:17318236-17343486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:145)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:145 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:17319739-17320323	GM12878	blood:	n/a	n/a
2	ATF2	chr11:17319713-17320319	GM12878	blood:	n/a	n/a
3	BATF	chr11:17319816-17320200	GM12878	blood:	n/a	n/a
4	BATF	chr11:17318396-17318651	GM12878	blood:	n/a	n/a
5	BATF	chr11:17318368-17318670	GM12878	blood:	n/a	n/a
6	BATF	chr11:17319777-17320285	GM12878	blood:	n/a	n/a
7	BCL11A	chr11:17319811-17320210	GM12878	blood:	n/a	n/a
8	BCL11A	chr11:17319838-17320210	GM12878	blood:	n/a	n/a
9	BCL3	chr11:17319744-17320237	GM12878	blood:	n/a	n/a
10	BCL3	chr11:17319803-17320138	GM12878	blood:	n/a	n/a
11	BCLAF1	chr11:17319783-17320311	GM12878	blood:	n/a	n/a
12	BCLAF1	chr11:17319803-17320210	GM12878	blood:	n/a	n/a
13	BHLHE40	chr11:17319916-17320153	GM12878	blood:	n/a	n/a
14	BHLHE40	chr11:17336006-17336007	HepG2	liver:	n/a	n/a
15	CEBPB	chr11:17320251-17320332	A549	lung:	n/a	n/a
16	CEBPB	chr11:17319749-17320358	GM12878	blood:	n/a	n/a
17	CEBPB	chr11:17327219-17327340	HepG2	liver:	n/a	chr11:17327224-17327235
18	CEBPB	chr11:17335796-17336042	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr11:17320225-17320412	K562	blood:	n/a	n/a
20	CEBPB	chr11:17319896-17320187	GM12878	blood:	n/a	n/a
21	CEBPB	chr11:17320213-17320404	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr11:17335538-17336126	IMR90	lung:	n/a	n/a
23	CHD1	chr11:17320060-17320072	GM12878	blood:	n/a	n/a
24	CHD2	chr11:17320004-17320060	GM12878	blood:	n/a	n/a
25	CREB1	chr11:17319819-17320336	GM12878	blood:	n/a	n/a
26	CTCF	chr11:17342683-17342701	Medullo	brain:	n/a	n/a
27	CTCF	chr11:17324170-17324234	MCF-7	breast:	n/a	n/a
28	CTCF	chr11:17324169-17324232	MCF-7	breast:	n/a	n/a
29	CTCF	chr11:17342705-17342750	Medullo	brain:	n/a	n/a
30	CTCF	chr11:17324179-17324191	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:17335420-17335570	GM12869	blood:	n/a	n/a
32	E2F4	chr11:17329360-17329562	MCF10A-Er-Src	breast:	n/a	n/a
33	EBF1	chr11:17319833-17320164	GM12878	blood:	n/a	n/a
34	EGR1	chr11:17319935-17320105	GM12878	blood:	n/a	n/a
35	EP300	chr11:17319816-17320163	GM12878	blood:	n/a	n/a
36	EP300	chr11:17319920-17320232	GM12878	blood:	n/a	n/a
37	EP300	chr11:17319896-17320244	GM12878	blood:	n/a	chr11:17320220-17320234
38	FOS	chr11:17335488-17336058	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr11:17335689-17336071	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr11:17329294-17329514	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr11:17329275-17329580	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr11:17335495-17336078	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr11:17329248-17329594	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr11:17335529-17336064	MCF10A-Er-Src	breast:	n/a	n/a
45	FOXM1	chr11:17319714-17320367	GM12878	blood:	n/a	n/a
46	FOXM1	chr11:17319606-17320372	GM12878	blood:	n/a	n/a
47	GATA2	chr11:17342777-17343027	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr11:17342707-17343475	SH-SY5Y	brain:	n/a	n/a
49	IKZF1	chr11:17318322-17319178	GM12878	blood:	n/a	n/a
50	IKZF1	chr11:17319791-17320295	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17325618..17327534-chr11:17329034..17330695,2	K562	blood:
2	chr11:17325618..17327534-chr11:17329034..17330695,2	K562	blood:
3	chr11:17336064..17337683-chr11:17338247..17340454,2	MCF-7	breast:
4	chr11:17326206..17329035-chr11:17373142..17375618,2	K562	blood:
5	chr11:17336111..17336712-chr4:31786899..31787441,2	MCF-7	breast:
6	chr11:17324227..17326282-chr11:17370624..17372568,2	K562	blood:
7	chr11:17336064..17337683-chr11:17338247..17340454,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNJ11-5	chr11:17328921-17329034	l_439_chr11:17315763-17328093_testes
2	lnc-KCNJ11-5	chr11:17329160-17329300	l_439_chr11:17315763-17328093_testes
3	lnc-KCNJ11-5	chr11:17327447-17328093	l_439_chr11:17315763-17328093_testes

No data

Variant related genes	Relation type
NUCB2	TF binding region
ENSG00000188211	chromatin interactions

Extended variants
information (count: 822 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:822 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12275573	chr11:17318236-17318237	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs60838059	chr11:17318307-17318308	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575441150	chr11:17318362-17318363	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192315158	chr11:17318387-17318388	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554288498	chr11:17318434-17318435	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572482287	chr11:17318510-17318511	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561015659	chr11:17318520-17318521	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183264971	chr11:17318528-17318529	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540255694	chr11:17318532-17318533	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538861217	chr11:17318558-17318559	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371235529	chr11:17318580-17318581	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367547461	chr11:17318761-17318762	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528670393	chr11:17318766-17318767	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187584439	chr11:17318789-17318790	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577022853	chr11:17318807-17318808	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544191875	chr11:17318810-17318811	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558469476	chr11:17318854-17318855	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562696158	chr11:17318914-17318915	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368732252	chr11:17318931-17318932	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529965203	chr11:17318953-17318954	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543122985	chr11:17318973-17318974	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374787242	chr11:17318979-17318980	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192173250	chr11:17318984-17318985	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184425025	chr11:17319008-17319009	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546946543	chr11:17319017-17319018	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35857434	chr11:17319022-17319023	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571554294	chr11:17319070-17319071	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532799351	chr11:17319084-17319085	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551028870	chr11:17319125-17319126	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569104314	chr11:17319146-17319147	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536475121	chr11:17319189-17319190	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546745227	chr11:17319202-17319203	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189917414	chr11:17319235-17319236	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566193929	chr11:17319243-17319244	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533669580	chr11:17319250-17319251	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540458479	chr11:17319316-17319317	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs57519658	chr11:17319318-17319319	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192989563	chr11:17319342-17319343	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184743335	chr11:17319353-17319354	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs214109	chr11:17319354-17319355	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71457871	chr11:17319355-17319356	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565136118	chr11:17319435-17319436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189464305	chr11:17319518-17319519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372592292	chr11:17319557-17319558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560411140	chr11:17319587-17319588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528539253	chr11:17319593-17319594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540379120	chr11:17319601-17319602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565271319	chr11:17319618-17319619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34329500	chr11:17319629-17319630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550975368	chr11:17319675-17319676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17299000-17320000	Weak transcription	Esophagus	oesophagus
2	chr11:17299000-17323200	Weak transcription	Ovary	ovary
3	chr11:17299000-17323400	Weak transcription	Aorta	Aorta
4	chr11:17299000-17357200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:17299000-17357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:17299000-17360600	Weak transcription	Small Intestine	intestine
7	chr11:17299200-17319800	Weak transcription	Fetal Intestine Small	intestine
8	chr11:17299200-17325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:17299200-17329600	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:17299200-17357000	Weak transcription	Brain Substantia Nigra	brain
11	chr11:17299400-17338200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:17299400-17355400	Weak transcription	Brain Angular Gyrus	brain
13	chr11:17299400-17357000	Weak transcription	Fetal Intestine Large	intestine
14	chr11:17299600-17335000	Weak transcription	Primary B cells from cord blood	blood
15	chr11:17299800-17327600	Weak transcription	HUVEC	blood vessel
16	chr11:17300200-17335000	Weak transcription	Fetal Brain Male	brain
17	chr11:17301600-17350400	Weak transcription	Fetal Heart	heart
18	chr11:17302200-17321800	Weak transcription	NHEK	skin
19	chr11:17302600-17329600	Weak transcription	K562	blood
20	chr11:17305800-17332400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:17306200-17353000	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:17307600-17328000	Weak transcription	Pancreas	Pancrea
23	chr11:17307800-17333600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:17308200-17323000	Weak transcription	Lung	lung
25	chr11:17308200-17335800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:17308200-17353600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:17308200-17357600	Weak transcription	HepG2	liver
28	chr11:17308200-17360800	Strong transcription	Fetal Thymus	thymus
29	chr11:17308200-17372600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:17308400-17335000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:17308400-17335000	Weak transcription	NHLF	lung
32	chr11:17308400-17356800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:17308400-17361600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:17308800-17331800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:17308800-17331800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:17309000-17324200	Weak transcription	Brain Germinal Matrix	brain
37	chr11:17309000-17327400	Weak transcription	Fetal Brain Female	brain
38	chr11:17309000-17331200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:17309000-17355600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:17309200-17323200	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:17309400-17335200	Weak transcription	Psoas Muscle	Psoas
42	chr11:17309600-17329600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:17310000-17320600	Weak transcription	Liver	Liver
44	chr11:17310800-17323400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:17311600-17321800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:17312200-17355400	Weak transcription	Fetal Kidney	kidney
47	chr11:17313800-17335400	Weak transcription	HSMMtube	muscle
48	chr11:17314200-17353400	Weak transcription	Stomach Mucosa	stomach
49	chr11:17314400-17335000	Strong transcription	Dnd41	blood
50	chr11:17315200-17335000	Weak transcription	Colonic Mucosa	Colon

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