Variant report

Variant	nsv519924
Chromosome Location	chr1:212631393-212638725
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212632499..212634395-chr1:212641047..212642647,2	K562	blood:
2	chr1:212634490..212636091-chr1:212645524..212647172,2	K562	blood:
3	chr1:212606261..212607831-chr1:212629678..212631842,2	K562	blood:
4	chr1:212634967..212638975-chr1:212780720..212784132,4	K562	blood:
5	chr1:212631286..212631786-chr1:212838659..212839233,2	K562	blood:
6	chr1:212630980..212631781-chr1:212955510..212956087,2	K562	blood:
7	chr1:212626698..212637479-chr1:212779685..212784714,19	K562	blood:
8	chr1:212629922..212631691-chr1:212659895..212661692,2	K562	blood:
9	chr1:212636838..212639720-chr1:212643460..212645324,2	K562	blood:
10	chr1:212630558..212633496-chr1:212671302..212673120,2	K562	blood:
11	chr1:212606882..212608476-chr1:212631103..212632696,2	MCF-7	breast:
12	chr1:212589362..212592084-chr1:212630605..212632407,2	K562	blood:
13	chr1:212630808..212631798-chr1:213168552..213169259,4	K562	blood:
14	chr1:212548749..212550698-chr1:212631997..212633826,2	K562	blood:
15	chr1:212313138..212314989-chr1:212629911..212632338,2	K562	blood:
16	chr1:212631376..212634349-chr1:213167249..213169058,2	K562	blood:
17	chr1:212634664..212637460-chr1:212638255..212640310,2	MCF-7	breast:
18	chr1:212635707..212638056-chr1:212640059..212642694,3	K562	blood:
19	chr1:212628599..212634071-chr1:212780005..212784953,9	K562	blood:
20	chr1:212635848..212638507-chr1:212642034..212643626,2	MCF-7	breast:
21	chr1:212632904..212637583-chr1:212637604..212642982,9	K562	blood:
22	chr1:212634664..212637460-chr1:212638255..212640310,2	MCF-7	breast:
23	chr1:212230913..212233313-chr1:212635726..212638248,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224535	chromatin interactions
ENSG00000237980	chromatin interactions
ENSG00000162772	chromatin interactions
ENSG00000117691	chromatin interactions

Extended variants
information (count: 277 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6657001	chr1:212631393-212631394	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145320202	chr1:212631397-212631398	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs570275347	chr1:212631462-212631463	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs73088542	chr1:212631466-212631467	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552423019	chr1:212631509-212631510	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs370369845	chr1:212631587-212631588	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs374856165	chr1:212631588-212631589	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs76645865	chr1:212631662-212631663	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs147611513	chr1:212631683-212631684	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs115583854	chr1:212631713-212631714	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs557010023	chr1:212631714-212631715	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs80319129	chr1:212631745-212631746	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs140846435	chr1:212631785-212631786	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs538657403	chr1:212631826-212631827	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs73088546	chr1:212631834-212631835	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528500692	chr1:212631860-212631861	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575117908	chr1:212631883-212631884	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542938467	chr1:212631895-212631896	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190189695	chr1:212631922-212631923	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs572744433	chr1:212631940-212631941	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs540000492	chr1:212631975-212631976	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs76999027	chr1:212631994-212631995	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs116058519	chr1:212632020-212632021	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371037230	chr1:212632023-212632024	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs145521779	chr1:212632059-212632060	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs61830683	chr1:212632079-212632080	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10863969	chr1:212632118-212632119	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs376654790	chr1:212632157-212632158	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567916554	chr1:212632227-212632228	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537139409	chr1:212632263-212632264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549952901	chr1:212632322-212632323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs377740358	chr1:212632339-212632340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs75115717	chr1:212632366-212632367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs634296	chr1:212632381-212632382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs547185363	chr1:212632388-212632389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571377331	chr1:212632420-212632421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs145247228	chr1:212632449-212632450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs538951448	chr1:212632488-212632489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs137908759	chr1:212632537-212632538	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs182019395	chr1:212632542-212632543	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs558927514	chr1:212632545-212632546	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs575249999	chr1:212632623-212632624	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs142236561	chr1:212632701-212632702	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs145913795	chr1:212632816-212632817	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs372822991	chr1:212632824-212632825	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs540059747	chr1:212632836-212632837	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs184683314	chr1:212632841-212632842	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs188156088	chr1:212632852-212632853	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs572350868	chr1:212632930-212632931	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs180695484	chr1:212632997-212632998	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212614400-212636800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:212619600-212636800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:212620200-212631400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:212627400-212631600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:212627400-212631600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:212627400-212631800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:212628400-212631800	Enhancers	Brain Hippocampus Middle	brain
8	chr1:212628800-212632600	Enhancers	Brain Anterior Caudate	brain
9	chr1:212629000-212631400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:212629400-212631400	Weak transcription	Dnd41	blood
11	chr1:212629400-212631800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:212629400-212631800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:212629800-212631400	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:212629800-212640000	Weak transcription	Pancreas	Pancrea
15	chr1:212629800-212642600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:212629800-212643200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:212630000-212631400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:212630000-212632000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:212630600-212631800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:212630800-212631600	Weak transcription	Brain Angular Gyrus	brain
21	chr1:212631000-212632000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:212631200-212631400	Weak transcription	Brain Substantia Nigra	brain
23	chr1:212631200-212632800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:212631400-212631600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:212631400-212632000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:212631400-212632000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
27	chr1:212631400-212632000	ZNF genes & repeats	Brain Substantia Nigra	brain
28	chr1:212631400-212632800	Enhancers	Dnd41	blood
29	chr1:212631400-212633600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:212631600-212632000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:212631600-212632000	Enhancers	Brain Angular Gyrus	brain
32	chr1:212631600-212632400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:212631600-212632400	Enhancers	Fetal Thymus	thymus
34	chr1:212631800-212632000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:212631800-212632000	Enhancers	Fetal Muscle Trunk	muscle
36	chr1:212631800-212632200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr1:212631800-212632200	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr1:212631800-212632400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:212632000-212632200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:212632000-212632200	Weak transcription	Brain Angular Gyrus	brain
41	chr1:212632000-212632200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:212632000-212632400	Weak transcription	Brain Substantia Nigra	brain
43	chr1:212632000-212634200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:212632000-212635200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:212632000-212636400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:212632200-212636400	Enhancers	Brain Angular Gyrus	brain
47	chr1:212632200-212637400	Enhancers	Brain Cingulate Gyrus	brain
48	chr1:212632200-212637400	Enhancers	Brain Hippocampus Middle	brain
49	chr1:212632400-212632600	Enhancers	Brain Substantia Nigra	brain
50	chr1:212632400-212633200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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