Variant report

Variant	nsv511751
Chromosome Location	chr1:247026348-247029920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr1:247029256-247029578	HepG2	liver:	n/a	chr1:247029417-247029435 chr1:247029416-247029430
2	MAFF	chr1:247029291-247029600	K562	blood:	n/a	chr1:247029417-247029435 chr1:247029416-247029430
3	MAFK	chr1:247029252-247029576	IMR90	lung:	n/a	chr1:247029413-247029433 chr1:247029416-247029430 chr1:247029415-247029431
4	MAFK	chr1:247029263-247029593	HepG2	liver:	n/a	chr1:247029413-247029433 chr1:247029416-247029430 chr1:247029415-247029431
5	MAFK	chr1:247029287-247029573	K562	blood:	n/a	chr1:247029413-247029433 chr1:247029416-247029430 chr1:247029415-247029431
6	MAFK	chr1:247029244-247029597	HepG2	liver:	n/a	chr1:247029413-247029433 chr1:247029416-247029430 chr1:247029415-247029431
7	MAFK	chr1:247029373-247029573	H1-hESC	embryonic stem cell:	n/a	chr1:247029413-247029433 chr1:247029416-247029430 chr1:247029415-247029431
8	MAFK	chr1:247029320-247029539	Hela-S3	cervix:	n/a	chr1:247029413-247029433 chr1:247029416-247029430 chr1:247029415-247029431
9	POLR2A	chr1:247026999-247027243	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:247027249-247027256	HepG2	liver:	n/a	n/a
11	RFX5	chr1:247028995-247029400	K562	blood:	n/a	n/a
12	STAT3	chr1:247027427-247027708	MCF10A-Er-Src	breast:	n/a	n/a
13	TBL1XR1	chr1:247029883-247029909	GM12878	blood:	n/a	n/a
14	TCF7L2	chr1:247026133-247026465	HepG2	liver:	n/a	n/a
15	ZZZ3	chr1:247029839-247030329	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:247027725..247030371-chr1:247093774..247095818,2	MCF-7	breast:
2	chr1:247026865..247028618-chr1:247028960..247030926,2	MCF-7	breast:
3	chr1:247028600..247030122-chr1:247031520..247034371,2	K562	blood:
4	chr1:247029799..247031525-chr1:247058523..247060785,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-439E19.8.1-2	chr1:247027226-247027600	NONHSAT010745

Variant related genes	Relation type
AHCTF1	TF binding region
ENSG00000153207	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371688669	chr1:247026392-247026393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567474886	chr1:247026440-247026441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542206071	chr1:247026450-247026451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375354441	chr1:247026527-247026528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560680848	chr1:247026531-247026532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546883274	chr1:247026586-247026587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149437187	chr1:247026595-247026596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182436998	chr1:247026609-247026610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs36028619	chr1:247026625-247026626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545086786	chr1:247026676-247026677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570827268	chr1:247026774-247026775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571110488	chr1:247026799-247026800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144855018	chr1:247026839-247026840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148581930	chr1:247026900-247026901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575931393	chr1:247027084-247027085	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535405472	chr1:247027133-247027134	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187955343	chr1:247027147-247027148	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372046386	chr1:247027177-247027178	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144446615	chr1:247027184-247027185	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146607238	chr1:247027197-247027198	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12134528	chr1:247027204-247027205	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs193020663	chr1:247027209-247027210	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543414896	chr1:247027214-247027215	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373226573	chr1:247027240-247027241	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs572134617	chr1:247027256-247027257	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs371888208	chr1:247027286-247027287	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs563092117	chr1:247027301-247027302	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs377375258	chr1:247027302-247027303	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs369797943	chr1:247027306-247027307	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs142338484	chr1:247027321-247027322	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs548943647	chr1:247027327-247027328	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs372545499	chr1:247027335-247027336	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs373954182	chr1:247027358-247027359	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs562355764	chr1:247027371-247027372	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs527918600	chr1:247027374-247027375	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs139868397	chr1:247027382-247027383	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs375589160	chr1:247027386-247027387	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs13374054	chr1:247027434-247027435	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs539499022	chr1:247027481-247027482	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs535972925	chr1:247027513-247027514	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs555656253	chr1:247027521-247027522	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs114114245	chr1:247027547-247027548	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs534963381	chr1:247027565-247027566	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs143229745	chr1:247027588-247027589	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs555269712	chr1:247027646-247027647	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs10802451	chr1:247027650-247027651	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs534833665	chr1:247027664-247027665	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs557629134	chr1:247027680-247027681	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs577670378	chr1:247027683-247027684	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs543200628	chr1:247027684-247027685	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247002000-247038200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:247002200-247031400	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:247002200-247033800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:247002200-247034200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:247002200-247082400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:247002400-247081000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:247002800-247032600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:247002800-247043200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:247003200-247029200	Strong transcription	Fetal Thymus	thymus
10	chr1:247003200-247042200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:247003200-247042800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:247003400-247043000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:247003400-247044600	Strong transcription	Dnd41	blood
14	chr1:247004000-247040800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:247004000-247041200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr1:247004000-247042800	Strong transcription	Primary T cells from cord blood	blood
17	chr1:247004000-247053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:247004200-247042400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr1:247004200-247042800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:247004200-247043000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:247004200-247044400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:247004200-247044400	Strong transcription	Liver	Liver
23	chr1:247004200-247083400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:247004400-247043000	Strong transcription	Adipose Nuclei	Adipose
25	chr1:247004400-247044600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:247005200-247079800	Weak transcription	Stomach Mucosa	stomach
27	chr1:247006000-247029000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr1:247006600-247071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:247008800-247027800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:247009600-247031000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:247010000-247041200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:247010600-247029000	Strong transcription	Osteobl	bone
33	chr1:247013000-247032800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:247014000-247030800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:247014800-247030400	Strong transcription	Hela-S3	cervix
36	chr1:247015000-247029000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:247015400-247032600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:247018400-247056400	Weak transcription	Fetal Heart	heart
39	chr1:247018600-247033000	Weak transcription	Psoas Muscle	Psoas
40	chr1:247019400-247027800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:247020000-247029000	Strong transcription	HepG2	liver
42	chr1:247020400-247072800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:247020800-247034400	Weak transcription	Aorta	Aorta
44	chr1:247021800-247027000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:247022000-247043000	Strong transcription	A549	lung
46	chr1:247022400-247042800	Weak transcription	Gastric	stomach
47	chr1:247022800-247028400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:247023000-247027000	Weak transcription	NHEK	skin
49	chr1:247023000-247032800	Weak transcription	Fetal Brain Male	brain
50	chr1:247023400-247028400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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