Variant report

Variant	nsv549150
Chromosome Location	chr1:212999701-213011812
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	chr1:213001095..213003639-chr1:213003692..213005660,2	K562	blood:
2	chr1:212984776..212986773-chr1:212997927..213000551,2	K562	blood:
3	chr1:213002092..213003822-chr1:213040039..213042148,2	K562	blood:
4	chr1:212782226..212783823-chr1:212998854..213001770,2	K562	blood:
5	chr1:213001095..213003639-chr1:213003692..213005660,2	K562	blood:
6	chr1:213001465..213003584-chr1:213040615..213043476,2	MCF-7	breast:
7	chr1:213000835..213002742-chr1:213006925..213009621,2	K562	blood:
8	chr1:212782138..212783676-chr1:213005899..213008453,2	K562	blood:
9	chr1:213000835..213002742-chr1:213006925..213009621,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162772	chromatin interactions

Extended variants
information (count: 396 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10746436	chr1:212999701-212999702	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541780937	chr1:212999741-212999742	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146294190	chr1:212999742-212999743	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181429884	chr1:212999763-212999764	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111758085	chr1:212999768-212999769	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535135276	chr1:212999776-212999777	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142257229	chr1:212999794-212999795	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577760653	chr1:212999827-212999828	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538853609	chr1:212999831-212999832	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556957917	chr1:212999839-212999840	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543757190	chr1:212999852-212999853	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs151251180	chr1:212999856-212999857	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113322329	chr1:212999865-212999866	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs71646184	chr1:212999935-212999936	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560553795	chr1:212999984-212999985	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374446481	chr1:213000056-213000057	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185736097	chr1:213000058-213000059	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12750172	chr1:213000062-213000063	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565037998	chr1:213000074-213000075	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs59362226	chr1:213000120-213000121	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs71147033	chr1:213000126-213000127	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12734406	chr1:213000131-213000132	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs551967538	chr1:213000148-213000149	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112455517	chr1:213000149-213000150	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531234965	chr1:213000159-213000160	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113788606	chr1:213000168-213000169	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs181067137	chr1:213000180-213000181	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185909874	chr1:213000227-213000228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs191552697	chr1:213000235-213000236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112794913	chr1:213000274-213000275	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs142153834	chr1:213000276-213000277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113870964	chr1:213000295-213000296	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs185590597	chr1:213000296-213000297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12133429	chr1:213000339-213000340	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs12133430	chr1:213000342-213000343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374205146	chr1:213000348-213000349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536150223	chr1:213000376-213000377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs542162018	chr1:213000380-213000381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs572500819	chr1:213000381-213000382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540259299	chr1:213000396-213000397	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564795058	chr1:213000416-213000417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576894339	chr1:213000419-213000420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545225141	chr1:213000424-213000425	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563884465	chr1:213000426-213000427	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372969454	chr1:213000432-213000433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139647681	chr1:213000433-213000434	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs577802818	chr1:213000460-213000461	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs55750014	chr1:213000463-213000464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs74737937	chr1:213000466-213000467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190696598	chr1:213000474-213000475	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212979600-213001000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:212980800-213001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:212997200-213000200	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr1:212998600-212999800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:212998600-212999800	ZNF genes & repeats	HepG2	liver
6	chr1:212998600-212999800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr1:212998800-212999800	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr1:212998800-212999800	ZNF genes & repeats	Stomach Mucosa	stomach
9	chr1:212999000-212999800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:212999400-213009400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:212999800-213000400	Weak transcription	HepG2	liver
12	chr1:212999800-213000600	Weak transcription	Stomach Mucosa	stomach
13	chr1:212999800-213003600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:212999800-213005000	Weak transcription	Adipose Nuclei	Adipose
15	chr1:212999800-213005000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:213000200-213000400	Weak transcription	Fetal Intestine Small	intestine
17	chr1:213000400-213000800	Enhancers	HepG2	liver
18	chr1:213000400-213002800	Enhancers	Fetal Intestine Small	intestine
19	chr1:213000600-213001000	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr1:213000600-213001800	Enhancers	Stomach Mucosa	stomach
21	chr1:213000600-213002200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr1:213000600-213002600	Enhancers	Duodenum Mucosa	Duodenum
23	chr1:213000600-213002800	Enhancers	Fetal Intestine Large	intestine
24	chr1:213000800-213001000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr1:213000800-213002400	Flanking Active TSS	HepG2	liver
26	chr1:213001000-213001400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:213001000-213001400	Enhancers	A549	lung
28	chr1:213001000-213001600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:213001000-213005800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:213001400-213004600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:213001400-213005800	Weak transcription	A549	lung
32	chr1:213001600-213002200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr1:213001800-213008400	Weak transcription	Stomach Mucosa	stomach
34	chr1:213002200-213002600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:213002200-213006200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:213002400-213002800	Enhancers	HepG2	liver
37	chr1:213002600-213002800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr1:213002600-213006000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:213002800-213005800	Weak transcription	Fetal Intestine Small	intestine
40	chr1:213002800-213006000	Weak transcription	Fetal Intestine Large	intestine
41	chr1:213002800-213006000	Weak transcription	HepG2	liver
42	chr1:213002800-213006400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:213004600-213005000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:213004600-213005000	Enhancers	GM12878-XiMat	blood
45	chr1:213004600-213005400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:213004600-213005600	Enhancers	Primary B cells from peripheral blood	blood
47	chr1:213004800-213005000	Enhancers	Primary B cells from cord blood	blood
48	chr1:213004800-213005200	Enhancers	Primary hematopoietic stem cells	blood
49	chr1:213004800-213005800	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr1:213005000-213005200	Enhancers	Primary neutrophils fromperipheralblood	blood

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