Variant report

Variant	nsv1007919
Chromosome Location	chr1:191281316-191622430
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:96)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:96 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:191605237..191607003-chr1:191610030..191611864,2	K562	blood:
2	chr1:191576107..191578198-chr1:191578864..191580845,2	K562	blood:
3	chr1:76262387..76264305-chr1:191498781..191500281,2	K562	blood:
4	chr1:191371943..191373778-chr1:191427254..191429182,2	K562	blood:
5	chr1:191532249..191535067-chr1:191535515..191537308,2	K562	blood:
6	chr1:191389236..191392425-chr1:191392487..191394511,3	K562	blood:
7	chr1:191391455..191393247-chr1:191395809..191398618,2	K562	blood:
8	chr1:191401913..191403539-chr1:191421067..191423069,2	K562	blood:
9	chr1:191592940..191595945-chr1:191597443..191599181,3	K562	blood:
10	chr1:191424584..191426458-chr1:191426540..191428604,2	MCF-7	breast:
11	chr1:191616602..191619321-chr1:191633804..191636058,2	K562	blood:
12	chr1:191576107..191578198-chr1:191578864..191580845,2	K562	blood:
13	chr1:191531038..191532932-chr1:191533224..191534815,2	MCF-7	breast:
14	chr1:191461107..191464086-chr1:191468254..191471199,3	K562	blood:
15	chr1:191580900..191582708-chr1:191592956..191594970,2	K562	blood:
16	chr1:191446579..191448734-chr1:191448967..191451024,2	MCF-7	breast:
17	chr1:191476619..191478729-chr1:191489630..191491476,2	K562	blood:
18	chr1:191433727..191435829-chr1:191471858..191473427,2	K562	blood:
19	chr1:191466190..191469106-chr1:191473353..191475090,2	K562	blood:
20	chr1:191389236..191391019-chr1:191392844..191394511,2	K562	blood:
21	chr1:191371943..191373778-chr1:191427254..191429182,2	K562	blood:
22	chr1:191285545..191288478-chr1:191311947..191313590,2	MCF-7	breast:
23	chr1:191285545..191288478-chr1:191311947..191313590,2	MCF-7	breast:
24	chr1:191332317..191334180-chr1:191337399..191339945,2	K562	blood:
25	chr1:191367727..191369748-chr1:191373061..191374879,2	K562	blood:
26	chr1:191235053..191236832-chr1:191299467..191301857,2	MCF-7	breast:
27	chr1:191576250..191579114-chr1:191581438..191583705,3	MCF-7	breast:
28	chr1:191502483..191504253-chr17:56707440..56709288,2	MCF-7	breast:
29	chr1:191311585..191313743-chr1:191315163..191316847,2	K562	blood:
30	chr1:191332317..191334180-chr1:191337399..191339945,2	K562	blood:
31	chr1:191277227..191279088-chr1:191280511..191283131,2	K562	blood:
32	chr1:191421290..191423528-chr1:191424366..191426251,2	K562	blood:
33	chr1:191446579..191448734-chr1:191448967..191451024,2	MCF-7	breast:
34	chr1:191533124..191535603-chr12:13731082..13733492,2	MCF-7	breast:
35	chr1:191618527..191620299-chr1:191625178..191627507,2	K562	blood:
36	chr1:191334925..191337085-chr1:191337771..191340212,3	K562	blood:
37	chr1:191401913..191403539-chr1:191421067..191423069,2	K562	blood:
38	chr1:191507022..191509468-chr1:191509511..191511062,2	K562	blood:
39	chr1:191473798..191475673-chr1:191477416..191479078,2	K562	blood:
40	chr1:191532249..191535067-chr1:191535515..191537308,2	K562	blood:
41	chr1:191433727..191435829-chr1:191471858..191473427,2	K562	blood:
42	chr1:191605237..191607003-chr1:191610030..191611864,2	K562	blood:
43	chr1:191368248..191370695-chr1:191372787..191374561,2	K562	blood:
44	chr1:191501593..191503372-chr1:191505633..191507558,2	K562	blood:
45	chr1:191368248..191370695-chr1:191372787..191374561,2	K562	blood:
46	chr1:191530245..191535067-chr1:191535376..191537861,5	K562	blood:
47	chr1:191357719..191359865-chr1:191368131..191370717,2	K562	blood:
48	chr1:191367727..191369748-chr1:191373061..191374879,2	K562	blood:
49	chr1:191389236..191392425-chr1:191392487..191394511,3	K562	blood:
50	chr1:191488913..191492156-chr1:191496270..191498298,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-13	chr1:191487184-191487423	predAs_chen_BG220711_1
2	lnc-RGS18-9	chr1:191586857-191586992	NONHSAT008519
3	lnc-RGS18-9	chr1:191601401-191601706	NONHSAT008519
4	lnc-RGS18-9	chr1:191540498-191540691	NONHSAT008519
5	lnc-RGS18-10	chr1:191494155-191494355	expReg_chr1_21196_+
6	lnc-RGS18-9	chr1:191584886-191585028	NONHSAT008519

No data

Variant related genes	Relation type
ENSG00000212195	chromatin interactions
ENSG00000057468	chromatin interactions
ENSG00000271187	chromatin interactions

Extended variants
information (count: 4237 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:4237 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559019223	chr1:191287000-191287001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570823005	chr1:191287007-191287008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139262004	chr1:191287082-191287083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564361434	chr1:191287096-191287097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533657696	chr1:191287124-191287125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143081792	chr1:191287139-191287140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574791475	chr1:191287161-191287162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547022893	chr1:191287162-191287163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540829137	chr1:191287166-191287167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147485013	chr1:191287255-191287256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114785590	chr1:191287259-191287260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527849709	chr1:191287270-191287271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546069720	chr1:191287277-191287278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139831113	chr1:191287322-191287323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531222002	chr1:191287359-191287360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547849174	chr1:191287361-191287362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568151368	chr1:191287364-191287365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560656012	chr1:191287376-191287377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549079164	chr1:191287439-191287440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570637779	chr1:191287442-191287443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539778315	chr1:191287521-191287522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113518439	chr1:191287523-191287524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556510061	chr1:191287565-191287566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529518570	chr1:191287578-191287579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114078263	chr1:191287594-191287595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554624987	chr1:191287615-191287616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574919717	chr1:191287640-191287641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540370504	chr1:191287665-191287666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79808505	chr1:191287715-191287716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149981185	chr1:191287767-191287768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182436395	chr1:191287808-191287809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76743102	chr1:191287821-191287822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562864507	chr1:191287847-191287848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576282868	chr1:191287880-191287881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541819106	chr1:191287888-191287889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374369475	chr1:191287901-191287902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368911735	chr1:191287961-191287962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527408622	chr1:191287976-191287977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547159934	chr1:191287982-191287983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570623490	chr1:191289201-191289202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373177444	chr1:191289222-191289223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539539185	chr1:191289244-191289245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143220806	chr1:191289302-191289303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146697613	chr1:191289354-191289355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188629596	chr1:191289379-191289380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs367863651	chr1:191289424-191289425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs193204078	chr1:191289444-191289445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572652156	chr1:191289462-191289463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541036866	chr1:191289483-191289484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557775598	chr1:191289505-191289506	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Lung adenocarcinoma	21935476	CNVD
Glioblastoma multiforme	21510904	CNVD
Intellectual disability	21811512	CNVD
Parathyroid adenoma	20824076	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191287000-191288000	Enhancers	Fetal Heart	heart
2	chr1:191289200-191289600	Enhancers	Dnd41	blood
3	chr1:191312600-191314000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:191312800-191313400	Enhancers	Placenta	Placenta
5	chr1:191312800-191313600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:191312800-191314000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:191320000-191320400	Enhancers	Esophagus	oesophagus
8	chr1:191334000-191334600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:191334200-191334600	Enhancers	K562	blood
10	chr1:191337800-191338600	Active TSS	Pancreas	Pancrea
11	chr1:191337800-191339600	Active TSS	K562	blood
12	chr1:191338000-191338200	Enhancers	Colon Smooth Muscle	Colon
13	chr1:191338000-191338600	Active TSS	Rectal Smooth Muscle	rectum
14	chr1:191338000-191339800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:191338200-191338400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:191338200-191338400	Enhancers	Stomach Smooth Muscle	stomach
17	chr1:191338200-191338800	Active TSS	A549	lung
18	chr1:191338200-191339000	Active TSS	Colon Smooth Muscle	Colon
19	chr1:191338200-191339400	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr1:191338200-191339600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:191338200-191339800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:191338400-191339200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:191338400-191339400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:191338400-191340600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:191338600-191339200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:191338600-191339600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:191338600-191340800	Weak transcription	Pancreas	Pancrea
28	chr1:191339000-191339200	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr1:191339000-191339800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:191339200-191339400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:191339200-191339400	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr1:191339200-191339600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:191339200-191340000	Enhancers	Colon Smooth Muscle	Colon
34	chr1:191339200-191340800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:191339400-191339600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr1:191339400-191339800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:191339400-191340000	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:191339600-191340800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:191340000-191340400	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:191340000-191340400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:191340400-191341400	Enhancers	Colon Smooth Muscle	Colon
42	chr1:191340400-191341400	Enhancers	Rectal Smooth Muscle	rectum
43	chr1:191340600-191340800	Enhancers	Stomach Smooth Muscle	stomach
44	chr1:191340800-191341200	Enhancers	Fetal Lung	lung
45	chr1:191340800-191341200	Enhancers	Gastric	stomach
46	chr1:191340800-191341200	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr1:191340800-191341400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr1:191340800-191341400	Enhancers	Pancreas	Pancrea
49	chr1:191341000-191341400	Enhancers	Fetal Muscle Leg	muscle
50	chr1:191341200-191341400	Enhancers	Stomach Smooth Muscle	stomach

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