Variant report

Variant	nsv526723
Chromosome Location	chr11:127671315-127796350
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:127720354..127722060-chr11:127726130..127727656,2	K562	blood:
2	chr10:6150764..6151388-chr11:127773981..127774481,2	MCF-7	breast:
3	chr11:127759181..127761723-chr11:127762599..127765012,2	K562	blood:
4	chr11:127759181..127761723-chr11:127762599..127765012,2	K562	blood:
5	chr11:127760355..127762160-chr11:127765085..127767755,2	K562	blood:
6	chr11:127760355..127762160-chr11:127765085..127767755,2	K562	blood:
7	chr11:127767096..127768788-chr11:127772501..127775332,2	K562	blood:
8	chr11:127767096..127768788-chr11:127772501..127775332,2	K562	blood:
9	chr11:127720354..127722060-chr11:127726130..127727656,2	K562	blood:

No data

Extended variants
information (count: 4042 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:4042 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1425220	chr11:127671315-127671316	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115201300	chr11:127671422-127671423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561540763	chr11:127671440-127671441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574888178	chr11:127671472-127671473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114347639	chr11:127671473-127671474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370854189	chr11:127671560-127671561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560610903	chr11:127671587-127671588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114699611	chr11:127671629-127671630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552633448	chr11:127671657-127671658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564770182	chr11:127671658-127671659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562843271	chr11:127671688-127671689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530852043	chr11:127671689-127671690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550563620	chr11:127671738-127671739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567460652	chr11:127671740-127671741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536106365	chr11:127671749-127671750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186133065	chr11:127671775-127671776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566256093	chr11:127671776-127671777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74383686	chr11:127671796-127671797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10893752	chr11:127671814-127671815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs77201761	chr11:127671845-127671846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538533502	chr11:127671897-127671898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555008361	chr11:127672022-127672023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143537116	chr11:127672079-127672080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182614844	chr11:127672119-127672120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560648116	chr11:127672122-127672123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1364789	chr11:127672153-127672154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs35744471	chr11:127672161-127672162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546288476	chr11:127672168-127672169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185721949	chr11:127672170-127672171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10893753	chr11:127672208-127672209	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs548561604	chr11:127672211-127672212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190430205	chr11:127672236-127672237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116839990	chr11:127672299-127672300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113049885	chr11:127672328-127672329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183768141	chr11:127672343-127672344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10790920	chr11:127672354-127672355	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs79917979	chr11:127672369-127672370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188751508	chr11:127672408-127672409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568929428	chr11:127672414-127672415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537483492	chr11:127672435-127672436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554535885	chr11:127672481-127672482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146304389	chr11:127672539-127672540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148518518	chr11:127672591-127672592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554422341	chr11:127672627-127672628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369292745	chr11:127672637-127672638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372251307	chr11:127672651-127672652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530905841	chr11:127672730-127672731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546325463	chr11:127672808-127672809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193292903	chr11:127672838-127672839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376685167	chr11:127672842-127672843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	20729466	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
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Multiple myeloma	17550852	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	20823134	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19571808	CNVD
Multiple myeloma	16616336	CNVD
Myelodysplastic syndrome	18663149	CNVD
Autism	20858243	CNVD
Cancer	20164919	CNVD
Autism	20531469	CNVD
Urothelial carcinoma	21177765	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21045282	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Retinoblastoma	19183342	CNVD
Non-syndromic sensorineural hearing loss	22037309	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	chr11:127670800-127671400	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr11:127671400-127673800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr11:127672200-127674600	Enhancers	Fetal Intestine Large	intestine
4	chr11:127672400-127678800	Enhancers	Fetal Intestine Small	intestine
5	chr11:127673800-127674000	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr11:127673800-127674000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr11:127674000-127674400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:127674200-127675400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:127674400-127674800	Enhancers	Fetal Kidney	kidney
10	chr11:127674400-127676200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr11:127674600-127675000	Weak transcription	Fetal Intestine Large	intestine
12	chr11:127674600-127675200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:127674600-127675400	Enhancers	Liver	Liver
14	chr11:127674600-127676600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:127674800-127675200	Enhancers	Colon Smooth Muscle	Colon
16	chr11:127674800-127675600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:127674800-127675800	Weak transcription	Fetal Kidney	kidney
18	chr11:127674800-127676200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr11:127675000-127675400	Active TSS	Rectal Smooth Muscle	rectum
20	chr11:127675000-127675600	Enhancers	Fetal Stomach	stomach
21	chr11:127675000-127676800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr11:127675000-127678800	Enhancers	Fetal Intestine Large	intestine
23	chr11:127675200-127675800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:127675200-127676600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:127675400-127675600	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr11:127675400-127675800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr11:127675400-127676800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:127675400-127677200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr11:127675600-127676200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:127675600-127676600	Weak transcription	Fetal Stomach	stomach
31	chr11:127675600-127676800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:127675800-127676600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:127675800-127677000	Enhancers	Fetal Kidney	kidney
34	chr11:127676200-127678000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:127676200-127684200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:127676400-127676800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr11:127676600-127676800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:127676600-127677600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:127676600-127679400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:127676800-127677000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:127676800-127677000	Enhancers	Fetal Stomach	stomach
42	chr11:127676800-127678800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:127677000-127677200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:127677200-127678200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:127677600-127677800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:127677600-127678000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:127677600-127678200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr11:127677800-127678000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:127677800-127678200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:127677800-127678200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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