Variant report

Variant	nsv522670
Chromosome Location	chr11:75885321-75896572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75877596..75879712-chr11:75888366..75889930,2	K562	blood:
2	chr11:75892849..75895759-chr11:75897789..75899434,2	K562	blood:
3	chr11:75878808..75880535-chr11:75885544..75887523,2	K562	blood:
4	chr11:75886596..75888940-chr11:75889618..75892110,2	MCF-7	breast:
5	chr11:75891012..75893171-chr11:75895940..75897806,2	K562	blood:
6	chr11:75895025..75897686-chr11:75910991..75913944,2	K562	blood:
7	chr11:75892849..75895480-chr11:75897932..75899434,2	K562	blood:
8	chr11:75888382..75891358-chr11:75893738..75896231,2	MCF-7	breast:
9	chr11:75888382..75891358-chr11:75893738..75896231,2	MCF-7	breast:
10	chr11:75886596..75888940-chr11:75889618..75892110,2	MCF-7	breast:
11	chr11:75887769..75890550-chr11:75903812..75906303,2	K562	blood:
12	chr11:75526830..75528448-chr11:75885826..75888721,2	K562	blood:
13	chr11:75895372..75898295-chr11:75906346..75908229,2	K562	blood:
14	chr11:75891012..75893171-chr11:75895940..75897806,2	K562	blood:
15	chr11:75896186..75898075-chr11:75909574..75912491,2	K562	blood:
16	chr11:75886513..75888497-chr11:75907057..75909283,2	MCF-7	breast:

No data

Extended variants
information (count: 476 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7945646	chr11:75885321-75885322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7945655	chr11:75885339-75885340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557222108	chr11:75885373-75885374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574299863	chr11:75885375-75885376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77528086	chr11:75885415-75885416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553250529	chr11:75885422-75885423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573401713	chr11:75885445-75885446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113148413	chr11:75885471-75885472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528371788	chr11:75885502-75885503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77996117	chr11:75885516-75885517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530199762	chr11:75885539-75885540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185342650	chr11:75885541-75885542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532705724	chr11:75885553-75885554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201419071	chr11:75885560-75885561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544661079	chr11:75885579-75885580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563598418	chr11:75885585-75885586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561837054	chr11:75885589-75885590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529132840	chr11:75885591-75885592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199757380	chr11:75885593-75885594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368688712	chr11:75885597-75885598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59306142	chr11:75885600-75885601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2508778	chr11:75885601-75885602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2508777	chr11:75885607-75885608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2508776	chr11:75885612-75885613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142300481	chr11:75885615-75885616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56767436	chr11:75885669-75885670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529111325	chr11:75885683-75885684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61459796	chr11:75885714-75885715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs376824538	chr11:75885717-75885718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189819828	chr11:75885770-75885771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368986990	chr11:75885802-75885803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536646604	chr11:75885805-75885806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556636862	chr11:75885868-75885869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567264112	chr11:75885883-75885884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371752491	chr11:75885887-75885888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536511782	chr11:75885888-75885889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181136328	chr11:75885891-75885892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573337388	chr11:75885893-75885894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550650437	chr11:75885902-75885903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568971137	chr11:75885909-75885910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147577651	chr11:75885927-75885928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559087186	chr11:75885936-75885937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575856830	chr11:75885937-75885938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185490066	chr11:75885940-75885941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12275556	chr11:75885967-75885968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532926722	chr11:75885977-75885978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12281500	chr11:75886015-75886016	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542533685	chr11:75886070-75886071	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs559632834	chr11:75886071-75886072	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs589149	chr11:75886083-75886084	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:98)

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
Melanoma	18172304	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
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75877600-75887200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr11:75879800-75886600	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:75881000-75887200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:75883600-75897000	Weak transcription	Fetal Intestine Small	intestine
5	chr11:75886000-75887000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr11:75886000-75887400	Bivalent Enhancer	Fetal Stomach	stomach
7	chr11:75886200-75887800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:75886400-75888000	Enhancers	HepG2	liver
9	chr11:75886600-75887000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr11:75886600-75888200	Enhancers	Fetal Muscle Leg	muscle
11	chr11:75886600-75888800	Enhancers	Fetal Lung	lung
12	chr11:75886800-75887200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:75886800-75887600	Enhancers	Placenta	Placenta
14	chr11:75887000-75887600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:75887000-75887800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:75887000-75888000	Enhancers	GM12878-XiMat	blood
17	chr11:75887000-75888200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr11:75887000-75888800	Enhancers	Fetal Muscle Trunk	muscle
19	chr11:75887200-75887400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:75887200-75888000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr11:75887200-75888000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:75887200-75888200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:75887400-75888600	Enhancers	Fetal Stomach	stomach
24	chr11:75887600-75888200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:75887600-75892000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:75887800-75896400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:75888000-75888800	Flanking Active TSS	HepG2	liver
28	chr11:75888200-75888400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:75888200-75889400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:75888200-75895200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:75888400-75889600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:75888600-75889000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:75888800-75889000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:75888800-75889600	Enhancers	HepG2	liver
35	chr11:75888800-75894800	Weak transcription	Fetal Lung	lung
36	chr11:75889400-75889600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:75889400-75889600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:75889600-75889800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:75889600-75889800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:75889600-75889800	Bivalent Enhancer	Fetal Stomach	stomach
41	chr11:75889600-75890600	Weak transcription	HepG2	liver
42	chr11:75889600-75891000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:75889800-75890000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:75889800-75890000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:75889800-75890800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:75890600-75890800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:75890600-75891400	Flanking Active TSS	HepG2	liver
48	chr11:75890600-75897000	Weak transcription	Gastric	stomach
49	chr11:75890800-75891800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:75890800-75895200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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