Variant report

Variant	nsv159271
Chromosome Location	chr1:212926246-212928111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212867492..212870204-chr1:212923902..212926371,2	K562	blood:
2	chr1:212926276..212926792-chr1:213168366..213168980,2	K562	blood:
3	chr1:212924762..212928442-chr1:212932501..212935953,4	K562	blood:
4	chr1:212903656..212906475-chr1:212923448..212926257,3	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552368942	chr1:212926249-212926250	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs141543487	chr1:212926253-212926254	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs143646724	chr1:212926264-212926265	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs147047311	chr1:212926271-212926272	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs550651095	chr1:212926304-212926305	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs17019657	chr1:212926389-212926390	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs145077876	chr1:212926406-212926407	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs7538853	chr1:212926426-212926427	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs528780356	chr1:212926490-212926491	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs181242218	chr1:212926505-212926506	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs559136943	chr1:212926517-212926518	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs142616014	chr1:212926598-212926599	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568324162	chr1:212926636-212926637	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs201768445	chr1:212926669-212926670	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs537165795	chr1:212926725-212926726	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs187109633	chr1:212926765-212926766	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs561149790	chr1:212926777-212926778	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs544365311	chr1:212926789-212926790	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs76288249	chr1:212926837-212926838	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs188850201	chr1:212926922-212926923	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs78801658	chr1:212926938-212926939	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs559863042	chr1:212926955-212926956	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs12404618	chr1:212927009-212927010	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs78015280	chr1:212927039-212927040	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs74473682	chr1:212927065-212927066	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs531399971	chr1:212927164-212927165	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs12404885	chr1:212927167-212927168	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs569019143	chr1:212927171-212927172	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs370722121	chr1:212927231-212927232	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs181437362	chr1:212927292-212927293	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs548586749	chr1:212927300-212927301	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs78572574	chr1:212927301-212927302	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs186305592	chr1:212927323-212927324	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs190713632	chr1:212927346-212927347	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs577563280	chr1:212927352-212927353	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs538446986	chr1:212927391-212927392	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs369746672	chr1:212927403-212927404	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs564388408	chr1:212927427-212927428	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs574604352	chr1:212927487-212927488	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs76031447	chr1:212927498-212927499	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs553763791	chr1:212927517-212927518	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs571936210	chr1:212927535-212927536	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs546124664	chr1:212927668-212927669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs543422245	chr1:212927674-212927675	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs564226588	chr1:212927675-212927676	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs74138636	chr1:212927679-212927680	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543230204	chr1:212927725-212927726	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs545254719	chr1:212927735-212927736	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs561518574	chr1:212927752-212927753	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs149120014	chr1:212927798-212927799	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212895400-212926400	Weak transcription	Esophagus	oesophagus
2	chr1:212895400-212964600	Weak transcription	Pancreas	Pancrea
3	chr1:212895600-212964600	Weak transcription	Gastric	stomach
4	chr1:212898800-212934000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:212899800-212926400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:212900400-212927600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:212900400-212932600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:212900400-212936200	Weak transcription	Aorta	Aorta
9	chr1:212901400-212954000	Weak transcription	NH-A	brain
10	chr1:212902200-212941800	Weak transcription	Fetal Kidney	kidney
11	chr1:212902600-212943600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:212903600-212926400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:212908000-212933200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:212912000-212935800	Weak transcription	K562	blood
15	chr1:212915400-212932600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:212915400-212933400	Weak transcription	Ovary	ovary
17	chr1:212915400-212934400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:212915400-212936000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:212915400-212942000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:212917400-212926400	Weak transcription	Thymus	Thymus
21	chr1:212917600-212931200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:212918400-212929400	Weak transcription	Fetal Stomach	stomach
23	chr1:212918800-212930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:212919600-212926400	Weak transcription	Right Atrium	heart
25	chr1:212920000-212929200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:212920600-212929400	Weak transcription	Fetal Intestine Small	intestine
27	chr1:212921000-212929400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:212922200-212939600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:212923400-212928600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:212923600-212927600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:212923600-212927800	Weak transcription	Left Ventricle	heart
32	chr1:212923600-212932800	Weak transcription	Fetal Intestine Large	intestine
33	chr1:212923600-212935400	Weak transcription	Lung	lung
34	chr1:212923600-212956200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:212923600-212963800	Weak transcription	Brain Angular Gyrus	brain
36	chr1:212923600-212964400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:212923800-212926400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:212923800-212926400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:212923800-212926400	Weak transcription	Fetal Thymus	thymus
40	chr1:212923800-212926400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:212923800-212926400	Weak transcription	HSMM	muscle
42	chr1:212923800-212926600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:212923800-212926600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:212923800-212927200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:212923800-212927200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:212923800-212927400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:212923800-212927400	Enhancers	Primary T cells from cord blood	blood
48	chr1:212923800-212928000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:212923800-212931000	Weak transcription	Dnd41	blood
50	chr1:212923800-212932600	Weak transcription	Spleen	Spleen

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