Variant report

Variant	nsv947323
Chromosome Location	chr1:151956610-151960426
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
2	chr1:151958312..151964069-chr1:151964449..151968550,6	K562	blood:
3	chr1:151955991..151958464-chr1:151959511..151962330,2	K562	blood:
4	chr1:151957747..151960576-chr1:152018452..152020674,2	MCF-7	breast:
5	chr1:151861526..151864344-chr1:151954395..151956791,2	MCF-7	breast:
6	chr1:151906698..151908862-chr1:151958837..151961038,2	K562	blood:
7	chr1:151951145..151953064-chr1:151955721..151958103,2	K562	blood:
8	chr1:151903606..151908213-chr1:151959560..151963672,4	MCF-7	breast:
9	chr1:151906693..151908513-chr1:151954832..151956959,2	K562	blood:
10	chr1:151958341..151960703-chr1:152042436..152044270,2	MCF-7	breast:
11	chr1:151953443..151955255-chr1:151956966..151958733,2	K562	blood:
12	chr1:151512000..151514294-chr1:151960120..151963735,4	MCF-7	breast:
13	chr1:151740883..151742430-chr1:151959978..151962175,2	MCF-7	breast:
14	chr1:151957047..151958820-chr1:151961380..151963425,2	K562	blood:
15	chr1:151951212..151953064-chr1:151955112..151957221,2	K562	blood:
16	chr1:151937625..151940407-chr1:151960051..151962208,2	K562	blood:
17	chr1:151955991..151958464-chr1:151959511..151962330,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143367	chromatin interactions
ENSG00000163191	chromatin interactions
ENSG00000249602	chromatin interactions
ENSG00000232536	chromatin interactions
ENSG00000197747	chromatin interactions
ENSG00000229021	chromatin interactions
ENSG00000159445	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534443252	chr1:151956637-151956638	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530731586	chr1:151956643-151956644	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550545286	chr1:151956719-151956720	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184397463	chr1:151956789-151956790	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536265249	chr1:151956790-151956791	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558704772	chr1:151956807-151956808	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs2338019	chr1:151956814-151956815	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs144004921	chr1:151956833-151956834	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs535113922	chr1:151956907-151956908	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs189154031	chr1:151956944-151956945	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs150927990	chr1:151956985-151956986	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs141120701	chr1:151956989-151956990	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs557279970	chr1:151957027-151957028	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs574286515	chr1:151957036-151957037	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs577563409	chr1:151957059-151957060	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs150270442	chr1:151957075-151957076	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs2932589	chr1:151957118-151957119	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs145815015	chr1:151957122-151957123	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs184225084	chr1:151957157-151957158	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs372807126	chr1:151957202-151957203	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs535383349	chr1:151957233-151957234	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs562204906	chr1:151957325-151957326	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs188872111	chr1:151957374-151957375	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs148970863	chr1:151957383-151957384	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs570333906	chr1:151957390-151957391	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs533024635	chr1:151957432-151957433	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs181825701	chr1:151957488-151957489	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566457543	chr1:151957512-151957513	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs535427604	chr1:151957554-151957555	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs555109015	chr1:151957557-151957558	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs147066585	chr1:151957607-151957608	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs186518175	chr1:151957632-151957633	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs138418145	chr1:151957735-151957736	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs577526684	chr1:151957765-151957766	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143904883	chr1:151957766-151957767	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs117299273	chr1:151957767-151957768	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573621598	chr1:151957837-151957838	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs542170206	chr1:151957886-151957887	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs561944432	chr1:151957893-151957894	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575665174	chr1:151957903-151957904	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372751670	chr1:151957922-151957923	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189743242	chr1:151957935-151957936	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs72993621	chr1:151957950-151957951	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs532939085	chr1:151957969-151957970	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146442284	chr1:151957976-151957977	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200817591	chr1:151957999-151958000	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs180714565	chr1:151958011-151958012	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529182941	chr1:151958044-151958045	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548914283	chr1:151958048-151958049	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs148297993	chr1:151958073-151958074	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151941600-151961200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:151946600-151957000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:151946600-151958800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:151949200-151963200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:151949800-151957200	Weak transcription	Stomach Mucosa	stomach
6	chr1:151951000-151961800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:151951600-151960800	Weak transcription	Fetal Thymus	thymus
8	chr1:151951800-151961800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:151952400-151959600	Genic enhancers	NHDF-Ad	bronchial
10	chr1:151952400-151960800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:151952600-151957800	Genic enhancers	Fetal Intestine Small	intestine
12	chr1:151952600-151960400	Genic enhancers	NHEK	skin
13	chr1:151952800-151957200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr1:151952800-151957400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:151952800-151959400	Strong transcription	Primary T cells from cord blood	blood
16	chr1:151953000-151957200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:151953000-151958400	Strong transcription	Lung	lung
18	chr1:151953000-151958400	Strong transcription	Spleen	Spleen
19	chr1:151953000-151958600	Genic enhancers	Rectal Mucosa Donor 31	rectum
20	chr1:151953000-151958800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr1:151953200-151957000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:151953200-151958800	Strong transcription	Fetal Lung	lung
23	chr1:151953400-151956800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:151953400-151958600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:151953400-151958600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:151953400-151958600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:151953400-151958800	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr1:151953400-151959200	Genic enhancers	Placenta Amnion	Placenta Amnion
29	chr1:151953400-151959200	Strong transcription	Dnd41	blood
30	chr1:151953400-151959400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:151953400-151959400	Strong transcription	Psoas Muscle	Psoas
32	chr1:151953400-151959400	Genic enhancers	HSMM	muscle
33	chr1:151953600-151957600	Strong transcription	Gastric	stomach
34	chr1:151953600-151958000	Genic enhancers	Hela-S3	cervix
35	chr1:151953600-151959000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:151953600-151959400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:151953600-151959400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:151953600-151959400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:151953600-151959400	Strong transcription	Liver	Liver
40	chr1:151953800-151957600	Weak transcription	Fetal Kidney	kidney
41	chr1:151953800-151958200	Strong transcription	Rectal Smooth Muscle	rectum
42	chr1:151953800-151958400	Strong transcription	Right Ventricle	heart
43	chr1:151953800-151958600	Strong transcription	Colonic Mucosa	Colon
44	chr1:151953800-151959400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:151954000-151956800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:151954000-151957000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:151954000-151957200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr1:151954000-151958200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:151954000-151958800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:151954000-151958800	Strong transcription	Fetal Muscle Trunk	muscle

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