Variant report

Variant	nsv555201
Chromosome Location	chr11:64408058-64409064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr11:64408786-64408878	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:64408612-64408648	ProgFib	skin:	n/a	n/a
3	POLR2A	chr11:64408543-64408606	ProgFib	skin:	n/a	n/a
4	POLR2A	chr11:64408525-64408537	ProgFib	skin:	n/a	n/a
5	SPI1	chr11:64408373-64408595	GM12891	blood:	n/a	chr11:64408464-64408477 chr11:64408467-64408476 chr11:64408464-64408477 chr11:64408465-64408478
6	SPI1	chr11:64409051-64409517	HL-60	blood:	n/a	chr11:64409258-64409267 chr11:64409255-64409268 chr11:64409255-64409268
7	SPI1	chr11:64408307-64408642	GM12891	blood:	n/a	chr11:64408464-64408477 chr11:64408467-64408476 chr11:64408464-64408477 chr11:64408465-64408478
8	SPI1	chr11:64408349-64408596	K562	blood:	n/a	chr11:64408464-64408477 chr11:64408467-64408476 chr11:64408464-64408477 chr11:64408465-64408478
9	SPI1	chr11:64408254-64408712	HL-60	blood:	n/a	chr11:64408632-64408645 chr11:64408464-64408477 chr11:64408467-64408476 chr11:64408464-64408477 chr11:64408465-64408478
10	SUZ12	chr11:64408665-64408984	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64408561-64408611	HepG2	liver:	n/a
2	chr11:64408561-64408611	HUVEC	blood vessel:	n/a
3	chr11:64408561-64408611	K562	blood:	n/a
4	chr11:64408561-64408611	PrEC	prostate:	n/a
5	chr11:64408561-64408611	PANC-1	pancreas:	n/a
6	chr11:64408561-64408611	NB4	blood:	n/a
7	chr11:64408561-64408611	A549	lung:	n/a
8	chr11:64408561-64408611	GM12892	blood:	n/a
9	chr11:64408561-64408611	ProgFib	skin:	n/a
10	chr11:64408561-64408611	HCPEpiC	choroid plexus:	n/a
11	chr11:64408561-64408611	GM06990	blood:	n/a
12	chr11:64408561-64408611	CMK	blood:	n/a
13	chr11:64408561-64408611	HRE	kidney:	n/a
14	chr11:64408561-64408611	HAEpiC	amniotic membrane:	n/a
15	chr11:64408561-64408611	LNCaP	prostate:	n/a
16	chr11:64408561-64408611	NH-A	brain:	n/a
17	chr11:64408561-64408611	SAEC	small airway:	n/a
18	chr11:64408561-64408611	HEK293	kidney:	embryo
19	chr11:64408561-64408611	PFSK-1	brain:	n/a
20	chr11:64408561-64408611	Hela-S3	cervix:	n/a
21	chr11:64408561-64408611	ovcar-3	ovarian:	n/a
22	chr11:64408561-64408611	NT2-D1	testis:	n/a
23	chr11:64408561-64408611	Caco-2	colon:	n/a
24	chr11:64408561-64408611	NHBE	bronchial:	n/a
25	chr11:64408561-64408611	HCM	heart:	n/a
26	chr11:64408561-64408611	GM19239	blood:	n/a
27	chr11:64408561-64408611	U87	brain:	n/a
28	chr11:64408561-64408611	HMEC	breast:	n/a
29	chr11:64408561-64408611	NHDF-neo	bronchial:	n/a
30	chr11:64408561-64408611	SKMC	muscle:	n/a
31	chr11:64408561-64408611	AG04450	lung:	fetal
32	chr11:64408561-64408611	AG04449	skin:	fetal
33	chr11:64408561-64408611	BJ	skin:	n/a
34	chr11:64408561-64408611	T-47D	breast:	n/a
35	chr11:64408561-64408611	SK-N-MC	brain:	n/a
36	chr11:64408561-64408611	MCF-7	breast:	n/a
37	chr11:64408561-64408611	HCF	heart:	n/a
38	chr11:64408561-64408611	GM12891	blood:	n/a
39	chr11:64408561-64408611	HPAEpiC	pulmonary alveolar:	n/a
40	chr11:64408561-64408611	HL-60	blood:	n/a
41	chr11:64408561-64408611	ECC-1	luminal epithelium:	n/a
42	chr11:64408561-64408611	AG10803	skin:	n/a
43	chr11:64408561-64408611	HIPEpiC	eye:	n/a
44	chr11:64408561-64408611	GM12878	blood:	n/a
45	chr11:64408561-64408611	HRCEpiC	kidney:	n/a
46	chr11:64408561-64408611	SK-N-SH	brain:	n/a
47	chr11:64408561-64408611	AG09319	gingival:	n/a
48	chr11:64408561-64408611	H1-hESC	embryonic stem cell:	embryo
49	chr11:64408561-64408611	IMR90	lung:	fetal
50	chr11:64408561-64408611	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64407781..64409296-chr11:64410548..64412915,2	K562	blood:
2	chr11:64406905..64410003-chr11:64415676..64418425,3	K562	blood:
3	11:64187725-64189071..11:64402707-64415880	K562	blood:

Variant related genes	Relation type
NRXN2	TF binding region
ENSG00000237410	TF binding region
NRXN2	CpG island
ENSG00000237410	CpG island
ENSG00000110076	chromatin interactions
ENSG00000231492	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12574866	chr11:64408058-64408059	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs71471955	chr11:64408080-64408081	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs140275123	chr11:64408099-64408100	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529109453	chr11:64408121-64408122	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs548654500	chr11:64408146-64408147	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs537535152	chr11:64408269-64408270	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs150328365	chr11:64408377-64408378	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs117675863	chr11:64408529-64408530	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs138245572	chr11:64408540-64408541	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs571102066	chr11:64408615-64408616	Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs539713277	chr11:64408625-64408626	Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs191867297	chr11:64408692-64408693	Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs370512765	chr11:64408698-64408699	Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs184103431	chr11:64408703-64408704	Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs57387921	chr11:64408716-64408717	Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555043878	chr11:64408830-64408831	Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs4930571	chr11:64408833-64408834	Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs575037752	chr11:64408874-64408875	Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs544181027	chr11:64408910-64408911	Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs367736469	chr11:64408926-64408927	Bivalent Enhancer Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs371785995	chr11:64409008-64409009	Strong transcription Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64400200-64408200	Weak transcription	HSMM	muscle
2	chr11:64403000-64410400	Weak transcription	Aorta	Aorta
3	chr11:64405400-64408800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:64406000-64409600	Weak transcription	HSMMtube	muscle
5	chr11:64406000-64409800	Weak transcription	Right Atrium	heart
6	chr11:64406600-64409400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr11:64406600-64410800	Active TSS	Brain Angular Gyrus	brain
8	chr11:64406800-64408400	Enhancers	Fetal Brain Male	brain
9	chr11:64406800-64411400	Active TSS	Brain Anterior Caudate	brain
10	chr11:64407000-64408200	Weak transcription	Fetal Kidney	kidney
11	chr11:64407000-64408200	Genic enhancers	Fetal Stomach	stomach
12	chr11:64407000-64408600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:64407000-64408800	Active TSS	Brain Cingulate Gyrus	brain
14	chr11:64407200-64408200	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:64407200-64408400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:64407400-64408400	Weak transcription	Ovary	ovary
17	chr11:64407400-64409400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
18	chr11:64407800-64409200	Strong transcription	Osteobl	bone
19	chr11:64407800-64409400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:64407800-64409400	Active TSS	Brain Hippocampus Middle	brain
21	chr11:64407800-64409400	Bivalent Enhancer	Fetal Lung	lung
22	chr11:64408000-64408400	Active TSS	Fetal Brain Female	brain
23	chr11:64408000-64409400	Weak transcription	Spleen	Spleen
24	chr11:64408200-64408400	Enhancers	Fetal Stomach	stomach
25	chr11:64408200-64408600	Enhancers	Colon Smooth Muscle	Colon
26	chr11:64408200-64408600	Enhancers	Fetal Kidney	kidney
27	chr11:64408200-64409800	Strong transcription	HSMM	muscle
28	chr11:64408400-64408600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr11:64408400-64409200	Bivalent Enhancer	Fetal Stomach	stomach
30	chr11:64408400-64409600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:64408400-64409600	Flanking Active TSS	Fetal Brain Female	brain
32	chr11:64408400-64409800	Enhancers	Ovary	ovary
33	chr11:64408400-64410000	Flanking Active TSS	Fetal Brain Male	brain
34	chr11:64408600-64408800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
35	chr11:64408600-64409000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:64408600-64409000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:64408600-64409400	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr11:64408600-64409400	Bivalent Enhancer	Fetal Kidney	kidney
39	chr11:64408600-64409600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
40	chr11:64408800-64409000	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr11:64408800-64409000	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
42	chr11:64408800-64409200	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr11:64408800-64409400	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:64408800-64411400	Weak transcription	Gastric	stomach
45	chr11:64409000-64409200	Active TSS	Brain Cingulate Gyrus	brain
46	chr11:64409000-64409200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
47	chr11:64409000-64409200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
48	chr11:64409000-64409400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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