Variant report

Variant	nsv982981
Chromosome Location	chr11:9115563-9121351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:207)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:207 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:9121165-9121443	K562	blood:	n/a	n/a
2	BHLHE40	chr11:9118076-9118298	K562	blood:	n/a	n/a
3	BHLHE40	chr11:9121342-9121417	K562	blood:	n/a	n/a
4	CCNT2	chr11:9121300-9121539	K562	blood:	n/a	n/a
5	CEBPB	chr11:9121240-9121382	K562	blood:	n/a	n/a
6	CEBPB	chr11:9120038-9120281	K562	blood:	n/a	n/a
7	CTCF	chr11:9117080-9117319	Fibrobl	skin:	n/a	n/a
8	CTCF	chr11:9116800-9116950	GM12873	blood:	n/a	n/a
9	CTCF	chr11:9117141-9117285	GM10248	blood:	n/a	n/a
10	CTCF	chr11:9117140-9117290	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr11:9117120-9117270	GM12871	blood:	n/a	n/a
12	CTCF	chr11:9117140-9117290	GM12864	blood:	n/a	n/a
13	CTCF	chr11:9117160-9117310	GM12865	blood:	n/a	n/a
14	CTCF	chr11:9117120-9117270	RPTEC	kidney:	n/a	n/a
15	CTCF	chr11:9117100-9117250	HVMF	connective:	n/a	n/a
16	CTCF	chr11:9117160-9117310	RPTEC	kidney:	n/a	n/a
17	CTCF	chr11:9117140-9117290	K562	blood:	n/a	n/a
18	CTCF	chr11:9117074-9117325	GM19239	blood:	n/a	n/a
19	CTCF	chr11:9117489-9117580	GM10266	blood:	n/a	n/a
20	CTCF	chr11:9117100-9117250	A549	lung:	n/a	n/a
21	CTCF	chr11:9117120-9117270	GM12873	blood:	n/a	n/a
22	CTCF	chr11:9117140-9117290	HEK293	kidney:	n/a	n/a
23	CTCF	chr11:9117042-9117345	K562	blood:	n/a	n/a
24	CTCF	chr11:9117067-9117359	GM12892	blood:	n/a	n/a
25	CTCF	chr11:9117097-9117305	GM13977	blood:	n/a	n/a
26	CTCF	chr11:9117072-9117329	Gliobla	brain:	n/a	n/a
27	CTCF	chr11:9117064-9117320	A549	lung:	n/a	n/a
28	CTCF	chr11:9117120-9117270	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr11:9117020-9117170	GM12866	blood:	n/a	n/a
30	CTCF	chr11:9117060-9117210	SAEC	small airway:	n/a	n/a
31	CTCF	chr11:9117140-9117290	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr11:9117103-9117295	MCF-7	breast:	n/a	n/a
33	CTCF	chr11:9117120-9117270	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr11:9117080-9117230	AG09319	gingival:	n/a	n/a
35	CTCF	chr11:9117080-9117230	AG09309	skin:	n/a	n/a
36	CTCF	chr11:9117120-9117270	NHLF	lung:	n/a	n/a
37	CTCF	chr11:9117120-9117270	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr11:9117144-9117246	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr11:9117200-9117470	WI-38	lung:	n/a	n/a
40	CTCF	chr11:9116995-9117338	K562	blood:	n/a	n/a
41	CTCF	chr11:9119708-9119740	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr11:9116994-9117373	K562	blood:	n/a	n/a
43	CTCF	chr11:9117120-9117270	GM12878	blood:	n/a	n/a
44	CTCF	chr11:9117099-9117292	MCF-7	breast:	n/a	n/a
45	CTCF	chr11:9117160-9117310	HVMF	connective:	n/a	n/a
46	CTCF	chr11:9117053-9117359	GM12891	blood:	n/a	n/a
47	CTCF	chr11:9117113-9117309	GM10266	blood:	n/a	n/a
48	CTCF	chr11:9117105-9117273	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr11:9117056-9117257	A549	lung:	n/a	n/a
50	CTCF	chr11:9117120-9117270	HPF	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:9119437-9119487	HRPEpiC	eye:	n/a
2	chr11:9116583-9116633	AG09319	gingival:	n/a
3	chr11:9119437-9119487	PrEC	prostate:	n/a
4	chr11:9119437-9119487	Hepatocyte	liver:	n/a
5	chr11:9116583-9116633	GM12891	blood:	n/a
6	chr11:9116583-9116633	NHBE	bronchial:	n/a
7	chr11:9119437-9119487	AoSMC	blood vessel:	n/a
8	chr11:9119437-9119487	HepG2	liver:	n/a
9	chr11:9119437-9119487	AG09309	skin:	n/a
10	chr11:9116583-9116633	HEEpiC	esophagus:	n/a
11	chr11:9119437-9119487	HCM	heart:	n/a
12	chr11:9119437-9119487	HPAEpiC	pulmonary alveolar:	n/a
13	chr11:9119437-9119487	GM06990	blood:	n/a
14	chr11:9119437-9119487	SKMC	muscle:	n/a
15	chr11:9116583-9116633	K562	blood:	n/a
16	chr11:9119437-9119487	GM12892	blood:	n/a
17	chr11:9119437-9119487	NHBE	bronchial:	n/a
18	chr11:9116583-9116633	GM12878	blood:	n/a
19	chr11:9116583-9116633	AG09309	skin:	n/a
20	chr11:9119437-9119487	SAEC	small airway:	n/a
21	chr11:9116583-9116633	NH-A	brain:	n/a
22	chr11:9116583-9116633	HMEC	breast:	n/a
23	chr11:9119437-9119487	AG09319	gingival:	n/a
24	chr11:9119437-9119487	HAEpiC	amniotic membrane:	n/a
25	chr11:9119437-9119487	PFSK-1	brain:	n/a
26	chr11:9116583-9116633	IMR90	lung:	fetal
27	chr11:9116583-9116633	PFSK-1	brain:	n/a
28	chr11:9116583-9116633	Jurkat	blood:	n/a
29	chr11:9116583-9116633	GM06990	blood:	n/a
30	chr11:9116583-9116633	CMK	blood:	n/a
31	chr11:9119437-9119487	SK-N-SH_RA	brain:	n/a
32	chr11:9116583-9116633	RPTEC	kidney:	n/a
33	chr11:9119437-9119487	HL-60	blood:	n/a
34	chr11:9119437-9119487	H1-hESC	embryonic stem cell:	embryo
35	chr11:9119437-9119487	U87	brain:	n/a
36	chr11:9116583-9116633	T-47D	breast:	n/a
37	chr11:9119437-9119487	HEK293	kidney:	embryo
38	chr11:9116583-9116633	HRPEpiC	eye:	n/a
39	chr11:9116583-9116633	HCT-116	colon:	n/a
40	chr11:9119437-9119487	HRCEpiC	kidney:	n/a
41	chr11:9116583-9116633	SK-N-MC	brain:	n/a
42	chr11:9119437-9119487	HIPEpiC	eye:	n/a
43	chr11:9116583-9116633	NT2-D1	testis:	n/a
44	chr11:9116583-9116633	SKMC	muscle:	n/a
45	chr11:9116583-9116633	ovcar-3	ovarian:	n/a
46	chr11:9116583-9116633	AG04449	skin:	fetal
47	chr11:9116583-9116633	HRE	kidney:	n/a
48	chr11:9119437-9119487	HCPEpiC	choroid plexus:	n/a
49	chr11:9119437-9119487	CMK	blood:	n/a
50	chr11:9119437-9119487	HMEC	breast:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9108004..9116385-chr11:9156452..9162678,21	MCF-7	breast:
2	chr11:9109432..9111291-chr11:9117498..9119505,2	K562	blood:
3	chr11:9109535..9113708-chr11:9115640..9120311,8	MCF-7	breast:
4	chr11:9109700..9116224-chr11:9155740..9163743,14	MCF-7	breast:

No data

Variant related genes	Relation type
MIR5691	TF binding region
KRT8P41	TF binding region
SCUBE2	TF binding region
MIR5691	CpG island
KRT8P41	CpG island
SCUBE2	CpG island
ENSG00000175356	chromatin interactions
ENSG00000264984	chromatin interactions

Extended variants
information (count: 249 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183057359	chr11:9115609-9115610	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs150834099	chr11:9115610-9115611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529370401	chr11:9115611-9115612	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373869264	chr11:9115612-9115613	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12785363	chr11:9115614-9115615	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
6	rs80166680	chr11:9115615-9115616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs117211057	chr11:9115640-9115641	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs551368987	chr11:9115682-9115683	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs139242711	chr11:9115689-9115690	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs75089415	chr11:9115725-9115726	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs546758731	chr11:9115759-9115760	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs4910441	chr11:9115771-9115772	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs564101249	chr11:9115783-9115784	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs555215012	chr11:9115812-9115813	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs546962310	chr11:9115815-9115816	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs575423076	chr11:9115864-9115865	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs12578071	chr11:9115918-9115919	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs74444167	chr11:9115924-9115925	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs373945084	chr11:9116012-9116013	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs578240807	chr11:9116019-9116020	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs187689149	chr11:9116086-9116087	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs554317623	chr11:9116105-9116106	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs560468058	chr11:9116145-9116146	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs529141919	chr11:9116176-9116177	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs574199716	chr11:9116196-9116197	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs543097849	chr11:9116201-9116202	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs539385032	chr11:9116219-9116220	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs2133214	chr11:9116224-9116225	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531714461	chr11:9116271-9116272	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs111656681	chr11:9116290-9116291	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs544969468	chr11:9116303-9116304	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs527579809	chr11:9116327-9116328	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs564972884	chr11:9116347-9116348	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs11042176	chr11:9116358-9116359	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs376721636	chr11:9116375-9116376	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs192579970	chr11:9116407-9116408	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs145100240	chr11:9116410-9116411	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs16914802	chr11:9116442-9116443	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568942453	chr11:9116444-9116445	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs183527720	chr11:9116446-9116447	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs570557592	chr11:9116459-9116460	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs557769048	chr11:9116464-9116465	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs571288694	chr11:9116469-9116470	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs539436085	chr11:9116474-9116475	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs534503334	chr11:9116482-9116483	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs186708856	chr11:9116501-9116502	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs574284111	chr11:9116513-9116514	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs542806040	chr11:9116571-9116572	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs556356623	chr11:9116580-9116581	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs552906425	chr11:9116583-9116584	Weak transcription Enhancers	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9113600-9116200	Enhancers	Pancreas	Pancrea
2	chr11:9113600-9118600	Weak transcription	Right Atrium	heart
3	chr11:9113600-9159800	Weak transcription	Right Ventricle	heart
4	chr11:9114200-9122000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:9114200-9136200	Weak transcription	Fetal Heart	heart
6	chr11:9114800-9117000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:9115000-9141800	Weak transcription	HSMM	muscle
8	chr11:9115200-9134400	Weak transcription	Fetal Stomach	stomach
9	chr11:9115400-9115600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:9115600-9117200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:9115800-9121800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:9116200-9116800	Enhancers	Spleen	Spleen
13	chr11:9116200-9118400	Weak transcription	Pancreas	Pancrea
14	chr11:9117000-9117200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:9117200-9117600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:9117600-9119200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:9118400-9119000	Enhancers	Pancreas	Pancrea
18	chr11:9118400-9119200	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr11:9118600-9119000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:9118600-9119400	Enhancers	Stomach Mucosa	stomach
21	chr11:9119000-9124800	Weak transcription	Pancreas	Pancrea
22	chr11:9119200-9119400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:9120600-9121800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:9121200-9121800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:9121200-9121800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr11:9121200-9121800	Flanking Active TSS	K562	blood

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