Variant report

Variant	nsv982988
Chromosome Location	chr11:17213952-17215900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:17213986-17214143	K562	blood:	n/a	n/a
2	POLR2A	chr11:17214384-17214392	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:17215556-17215666	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:17214202-17214381	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:17215664-17215680	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:17214253-17214298	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr11:17215482-17215830	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17207589..17210389-chr11:17212889..17214960,2	MCF-7	breast:
2	chr11:17214868..17217658-chr11:17229098..17231108,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUCB2-5	chr11:17215468-17215855	NONHSAT018217
2	lnc-NUCB2-5	chr11:17215036-17215101	NONHSAT018217

No data

Variant related genes	Relation type
ENSG00000213779	TF binding region
ENSG00000011405	chromatin interactions
ENSG00000070081	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527966194	chr11:17213994-17213995	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs552875140	chr11:17213996-17213997	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs570954163	chr11:17214125-17214126	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs150052100	chr11:17214199-17214200	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs560026152	chr11:17214222-17214223	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs556255137	chr11:17214267-17214268	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs568176146	chr11:17214284-17214285	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs535413237	chr11:17214309-17214310	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs556392210	chr11:17214366-17214367	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs572041897	chr11:17214419-17214420	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs34587780	chr11:17214422-17214423	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs145412008	chr11:17214450-17214451	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs34042388	chr11:17214455-17214456	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs558077701	chr11:17214520-17214521	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs181367198	chr11:17214528-17214529	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs576107913	chr11:17214536-17214537	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs138933480	chr11:17214547-17214548	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs61879754	chr11:17214552-17214553	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs61879755	chr11:17214556-17214557	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs562616949	chr11:17214568-17214569	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs530114879	chr11:17214574-17214575	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs541957259	chr11:17214578-17214579	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs560107299	chr11:17214588-17214589	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs527731224	chr11:17214636-17214637	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs552547972	chr11:17214662-17214663	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs376936900	chr11:17214667-17214668	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs571133658	chr11:17214702-17214703	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs531779185	chr11:17214708-17214709	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs550417882	chr11:17214764-17214765	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs184102054	chr11:17214767-17214768	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs535528264	chr11:17214851-17214852	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs371273325	chr11:17214854-17214855	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs553950397	chr11:17214868-17214869	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs565534286	chr11:17214885-17214886	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs539420051	chr11:17214889-17214890	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs188433596	chr11:17214898-17214899	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs180861176	chr11:17214899-17214900	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs187182162	chr11:17214914-17214915	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs555128971	chr11:17214925-17214926	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs512852	chr11:17214929-17214930	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs556161886	chr11:17215011-17215012	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs192113164	chr11:17215016-17215017	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs572309888	chr11:17215075-17215076	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs546196044	chr11:17215115-17215116	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs511119	chr11:17215117-17215118	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs532019670	chr11:17215166-17215167	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs550529235	chr11:17215177-17215178	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs568122726	chr11:17215195-17215196	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs529555819	chr11:17215224-17215225	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs541812044	chr11:17215248-17215249	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
2	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:17165200-17215200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
5	chr11:17172600-17214600	Weak transcription	Fetal Brain Female	brain
6	chr11:17184800-17228800	Weak transcription	Esophagus	oesophagus
7	chr11:17187000-17228000	Weak transcription	Colonic Mucosa	Colon
8	chr11:17187200-17214000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:17187200-17214200	Weak transcription	Right Ventricle	heart
10	chr11:17187200-17226800	Weak transcription	Small Intestine	intestine
11	chr11:17191000-17220600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:17191200-17227800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:17191400-17214400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:17192000-17214400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:17192400-17214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:17192400-17217800	Weak transcription	Stomach Mucosa	stomach
17	chr11:17194000-17215400	Weak transcription	A549	lung
18	chr11:17194200-17214400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:17194200-17228000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:17197000-17215600	Weak transcription	Brain Germinal Matrix	brain
21	chr11:17197600-17228000	Weak transcription	Brain Angular Gyrus	brain
22	chr11:17198600-17214400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:17199600-17215400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:17202400-17214200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:17203000-17228800	Weak transcription	Spleen	Spleen
26	chr11:17204600-17214200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:17205400-17220200	Weak transcription	Aorta	Aorta
28	chr11:17206400-17214000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:17207400-17228200	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:17207800-17214200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:17207800-17215000	Weak transcription	Gastric	stomach
32	chr11:17208600-17215600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:17208800-17227400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:17209400-17228000	Weak transcription	K562	blood
35	chr11:17209800-17217400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:17210000-17220200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:17210200-17220400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:17210400-17214400	Strong transcription	Fetal Intestine Small	intestine
39	chr11:17210400-17227400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:17210600-17214400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:17210600-17214400	Weak transcription	Brain Anterior Caudate	brain
42	chr11:17210600-17228200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:17210600-17228200	Weak transcription	Brain Substantia Nigra	brain
44	chr11:17210800-17214000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:17210800-17222400	Weak transcription	Psoas Muscle	Psoas
46	chr11:17210800-17228000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:17211000-17214400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr11:17211000-17214400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:17211200-17214600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:17211200-17216600	Strong transcription	Fetal Stomach	stomach

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