Variant report

Variant	nsv975948
Chromosome Location	chr11:73630093-73635600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr11:73633623-73633798	K562	blood:	n/a	n/a
2	MAFF	chr11:73632381-73632443	K562	blood:	n/a	n/a
3	MAFK	chr11:73632315-73632546	IMR90	lung:	n/a	n/a
4	MYC	chr11:73633523-73633554	H1-hESC	embryonic stem cell:	n/a	n/a
5	STAT3	chr11:73630778-73630977	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr11:73633899-73634295	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:73627908..73629424-chr11:73633704..73636649,2	K562	blood:
2	chr11:73629846..73633013-chr11:73635127..73638678,4	K562	blood:
3	chr11:73629846..73633013-chr11:73635127..73638678,4	K562	blood:
4	chr11:73634489..73636517-chr11:73653187..73655422,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256360	TF binding region
ENSG00000256898	TF binding region

Extended variants
information (count: 212 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:212 , 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	rs574374430	chr11:73630106-73630107	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60965741	chr11:73630143-73630144	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536208609	chr11:73630177-73630178	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371075483	chr11:73630193-73630194	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561214756	chr11:73630208-73630209	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs540260241	chr11:73630221-73630222	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs553869533	chr11:73630226-73630227	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs577128388	chr11:73630280-73630281	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs531545505	chr11:73630320-73630321	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs17132495	chr11:73630337-73630338	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs114467183	chr11:73630366-73630367	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs148061252	chr11:73630367-73630368	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs191708588	chr11:73630391-73630392	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs562393602	chr11:73630405-73630406	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs527984762	chr11:73630485-73630486	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs531987970	chr11:73630549-73630550	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs546618472	chr11:73630569-73630570	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs183847696	chr11:73630585-73630586	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs141765642	chr11:73630587-73630588	Strong transcription Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs367760244	chr11:73630614-73630615	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116967011	chr11:73630619-73630620	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568579770	chr11:73630659-73630660	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566907180	chr11:73630664-73630665	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537685044	chr11:73630682-73630683	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116022224	chr11:73630751-73630752	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566272222	chr11:73630769-73630770	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371764877	chr11:73630796-73630797	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565481899	chr11:73630798-73630799	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117372893	chr11:73630814-73630815	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117784517	chr11:73630885-73630886	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs935988	chr11:73630929-73630930	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs12790445	chr11:73631053-73631054	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs1792188	chr11:73631060-73631061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539785570	chr11:73631074-73631075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537316650	chr11:73631083-73631084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190324995	chr11:73631095-73631096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372294739	chr11:73631117-73631118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs935987	chr11:73631150-73631151	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs181644457	chr11:73631190-73631191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562260307	chr11:73631266-73631267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568972790	chr11:73631272-73631273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541366746	chr11:73631312-73631313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564775661	chr11:73631321-73631322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150151107	chr11:73631327-73631328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552135442	chr11:73631348-73631349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138585730	chr11:73631350-73631351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531303891	chr11:73631351-73631352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185819755	chr11:73631499-73631500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190343556	chr11:73631547-73631548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533961055	chr11:73631561-73631562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17142309	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73588800-73630200	Weak transcription	HUVEC	blood vessel
2	chr11:73589000-73630200	Weak transcription	Fetal Brain Male	brain
3	chr11:73596000-73640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:73601000-73640400	Weak transcription	Stomach Mucosa	stomach
5	chr11:73602400-73644800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:73606800-73638200	Weak transcription	NHLF	lung
7	chr11:73611600-73630200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:73613000-73640600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:73615400-73640800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:73615800-73633400	Strong transcription	Primary T cells from cord blood	blood
11	chr11:73615800-73633600	Strong transcription	Fetal Muscle Leg	muscle
12	chr11:73615800-73641400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:73616000-73633400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr11:73617600-73646000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:73618000-73646400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:73618400-73641600	Strong transcription	Placenta	Placenta
17	chr11:73618800-73635200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:73618800-73638800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:73619200-73636800	Strong transcription	Fetal Thymus	thymus
20	chr11:73619600-73633200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:73619600-73639800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr11:73620200-73631000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:73620200-73631000	Strong transcription	Ovary	ovary
24	chr11:73620200-73631200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:73620200-73631200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:73620200-73632000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:73620200-73633000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr11:73620200-73633200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:73620200-73633400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:73620200-73633400	Strong transcription	GM12878-XiMat	blood
31	chr11:73620200-73633600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr11:73620200-73634200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr11:73620200-73640800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:73620200-73641400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:73620400-73630800	Strong transcription	Brain Cingulate Gyrus	brain
36	chr11:73620400-73631000	Strong transcription	Brain Hippocampus Middle	brain
37	chr11:73620400-73631200	Strong transcription	Adipose Nuclei	Adipose
38	chr11:73620400-73631200	Strong transcription	Fetal Brain Female	brain
39	chr11:73620400-73631200	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr11:73620400-73631400	Strong transcription	Primary B cells from cord blood	blood
41	chr11:73620400-73633000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:73620400-73633600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:73620400-73641000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr11:73621600-73631200	Strong transcription	HSMM	muscle
45	chr11:73622600-73630800	Strong transcription	Left Ventricle	heart
46	chr11:73622800-73633600	Strong transcription	Lung	lung
47	chr11:73624200-73631000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:73624800-73631000	Strong transcription	Osteobl	bone
49	chr11:73624800-73631200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:73624800-73633000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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