Variant report

Variant	nsv549171
Chromosome Location	chr1:213005877-213009657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212782138..212783676-chr1:213005899..213008453,2	K562	blood:
2	chr1:213000835..213002742-chr1:213006925..213009621,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572915250	chr1:213005896-213005897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541219814	chr1:213005927-213005928	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs6697507	chr1:213005941-213005942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs75787376	chr1:213005958-213005959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556257282	chr1:213006006-213006007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533614281	chr1:213006012-213006013	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs17019770	chr1:213006058-213006059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183975606	chr1:213006061-213006062	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530894093	chr1:213006063-213006064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs549382706	chr1:213006076-213006077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567608463	chr1:213006081-213006082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528597983	chr1:213006249-213006250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546822486	chr1:213006271-213006272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144413617	chr1:213006323-213006324	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs6700410	chr1:213006397-213006398	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs78943858	chr1:213006456-213006457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564321664	chr1:213006462-213006463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535815779	chr1:213006504-213006505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554552464	chr1:213006532-213006533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs572809200	chr1:213006536-213006537	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs148770134	chr1:213006538-213006539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs6689604	chr1:213006597-213006598	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs578206990	chr1:213006686-213006687	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545634179	chr1:213006704-213006705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563945688	chr1:213006723-213006724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12036054	chr1:213006727-213006728	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs187248984	chr1:213006767-213006768	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541095506	chr1:213006785-213006786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs6689799	chr1:213006805-213006806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs528521412	chr1:213006818-213006819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189760517	chr1:213006821-213006822	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35760900	chr1:213006846-213006847	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528696904	chr1:213006925-213006926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs565071168	chr1:213006956-213006957	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs7553276	chr1:213006957-213006958	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs182062215	chr1:213006977-213006978	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs75541945	chr1:213007040-213007041	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549872372	chr1:213007058-213007059	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568763875	chr1:213007070-213007071	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536556933	chr1:213007078-213007079	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs548228270	chr1:213007079-213007080	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7545535	chr1:213007158-213007159	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566441060	chr1:213007210-213007211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs113493711	chr1:213007242-213007243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533587237	chr1:213007257-213007258	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7548112	chr1:213007296-213007297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs577036428	chr1:213007302-213007303	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187174431	chr1:213007321-213007322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569770507	chr1:213007343-213007344	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs374669233	chr1:213007355-213007356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212999400-213009400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:213001800-213008400	Weak transcription	Stomach Mucosa	stomach
3	chr1:213002200-213006200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:213002600-213006000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:213002800-213006000	Weak transcription	Fetal Intestine Large	intestine
6	chr1:213002800-213006000	Weak transcription	HepG2	liver
7	chr1:213002800-213006400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:213005400-213006600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:213005400-213007800	Enhancers	GM12878-XiMat	blood
10	chr1:213005600-213006600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:213005800-213006600	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr1:213005800-213007400	Enhancers	A549	lung
13	chr1:213005800-213009800	Enhancers	Fetal Intestine Small	intestine
14	chr1:213006000-213006800	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:213006000-213007000	Enhancers	HepG2	liver
16	chr1:213006000-213008200	Enhancers	Fetal Intestine Large	intestine
17	chr1:213006200-213007400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:213006400-213006600	Enhancers	Colonic Mucosa	Colon
19	chr1:213006400-213007800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr1:213006600-213007000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:213006600-213008000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:213006800-213007000	Enhancers	Primary B cells from peripheral blood	blood
23	chr1:213006800-213007400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr1:213006800-213007800	Weak transcription	Colonic Mucosa	Colon
25	chr1:213006800-213007800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:213007000-213007200	Flanking Active TSS	HepG2	liver
27	chr1:213007000-213007400	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr1:213007200-213007400	Enhancers	HepG2	liver
29	chr1:213007400-213007600	Flanking Active TSS	HepG2	liver
30	chr1:213007400-213007800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:213007400-213007800	Flanking Active TSS	A549	lung
32	chr1:213007600-213008200	Enhancers	HepG2	liver
33	chr1:213007800-213008200	Enhancers	Colonic Mucosa	Colon
34	chr1:213007800-213008400	Enhancers	A549	lung
35	chr1:213008000-213008200	Enhancers	Duodenum Mucosa	Duodenum
36	chr1:213008400-213008600	Enhancers	Stomach Mucosa	stomach
37	chr1:213008600-213009000	Weak transcription	Stomach Mucosa	stomach
38	chr1:213009000-213009400	Enhancers	Stomach Mucosa	stomach
39	chr1:213009400-213009600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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