Variant report

Variant	nsv945322
Chromosome Location	chr1:224484496-224486865
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	CEBPB	chr1:224486309-224486603	K562	blood:	n/a	chr1:224486419-224486428 chr1:224486481-224486492 chr1:224486480-224486493
2	CEBPB	chr1:224486355-224486554	IMR90	lung:	n/a	chr1:224486419-224486428 chr1:224486481-224486492 chr1:224486480-224486493
3	CEBPB	chr1:224486333-224486541	HepG2	liver:	n/a	chr1:224486419-224486428 chr1:224486481-224486492 chr1:224486480-224486493
4	CEBPB	chr1:224486324-224486556	A549	lung:	n/a	chr1:224486419-224486428 chr1:224486481-224486492 chr1:224486480-224486493
5	CTCF	chr1:224485485-224485505	GM10266	blood:	n/a	n/a
6	EP300	chr1:224486668-224487187	MCF-7	breast:	n/a	n/a
7	FOS	chr1:224486389-224486523	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:224486393-224486529	MCF10A-Er-Src	breast:	n/a	n/a
9	GATA2	chr1:224486693-224486893	SH-SY5Y	brain:	n/a	chr1:224486867-224486880
10	GATA3	chr1:224486481-224487046	SH-SY5Y	brain:	n/a	chr1:224486659-224486666 chr1:224486657-224486667 chr1:224486654-224486670 chr1:224486867-224486880 chr1:224486657-224486666
11	GATA3	chr1:224486583-224487115	MCF-7	breast:	n/a	chr1:224486659-224486666 chr1:224486657-224486667 chr1:224486654-224486670 chr1:224486867-224486880 chr1:224486657-224486666
12	GATA3	chr1:224486634-224487170	MCF-7	breast:	n/a	chr1:224486659-224486666 chr1:224486657-224486667 chr1:224486654-224486670 chr1:224486867-224486880 chr1:224486657-224486666
13	GATA3	chr1:224486563-224487193	MCF-7	breast:	n/a	chr1:224486659-224486666 chr1:224486657-224486667 chr1:224486654-224486670 chr1:224486867-224486880 chr1:224486657-224486666
14	GATA3	chr1:224486674-224487044	MCF-7	breast:	n/a	chr1:224486867-224486880
15	GATA3	chr1:224486605-224486987	T-47D	breast:	n/a	chr1:224486659-224486666 chr1:224486657-224486667 chr1:224486654-224486670 chr1:224486867-224486880 chr1:224486657-224486666
16	NR2F2	chr1:224486695-224487197	MCF-7	breast:	n/a	n/a
17	SIN3AK20	chr1:224486564-224487487	MCF-7	breast:	n/a	n/a
18	STAT3	chr1:224486344-224486581	MCF10A-Er-Src	breast:	n/a	chr1:224486420-224486428
19	TCF7L2	chr1:224486724-224487032	MCF-7	breast:	n/a	n/a
20	ZNF217	chr1:224486714-224487071	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:224485304..224486995-chr1:224491805..224493803,2	MCF-7	breast:
2	chr1:224300765..224303424-chr1:224486514..224488208,2	MCF-7	breast:
3	chr1:224485820..224488215-chr1:224499700..224501830,2	MCF-7	breast:
4	chr1:224486717..224491165-chr1:224492044..224494340,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNIH4-2	chr1:224485348-224485467	NONHSAT009790
2	lnc-CNIH4-2	chr1:224485949-224486302	NONHSAT009790

Variant related genes	Relation type
NVL	TF binding region
ENSG00000229742	TF binding region
ENSG00000143756	chromatin interactions
ENSG00000206887	chromatin interactions
ENSG00000143748	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188535286	chr1:224484498-224484499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368781694	chr1:224484556-224484557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540741528	chr1:224484559-224484560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs16846244	chr1:224484599-224484600	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs574312305	chr1:224484608-224484609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541416492	chr1:224484618-224484619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181038026	chr1:224484619-224484620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531088597	chr1:224484623-224484624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77740939	chr1:224484664-224484665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78638944	chr1:224484665-224484666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552390474	chr1:224484682-224484683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146367379	chr1:224484728-224484729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184369379	chr1:224484737-224484738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546733352	chr1:224484756-224484757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568529898	chr1:224484775-224484776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138564883	chr1:224484960-224484961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535894988	chr1:224484967-224484968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58910009	chr1:224485012-224485013	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569998824	chr1:224485022-224485023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149277488	chr1:224485026-224485027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558737168	chr1:224485046-224485047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188800107	chr1:224485076-224485077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114194978	chr1:224485079-224485080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181948042	chr1:224485116-224485117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574473315	chr1:224485280-224485281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368285259	chr1:224485307-224485308	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541453551	chr1:224485311-224485312	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187273157	chr1:224485469-224485470	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575549968	chr1:224485510-224485511	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs190907852	chr1:224485520-224485521	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564708549	chr1:224485521-224485522	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528717025	chr1:224485577-224485578	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs10916582	chr1:224485588-224485589	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555197249	chr1:224485593-224485594	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs79474924	chr1:224485616-224485617	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs551009297	chr1:224485674-224485675	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73130462	chr1:224485705-224485706	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs180844739	chr1:224485728-224485729	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs115523035	chr1:224485778-224485779	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs570716068	chr1:224485793-224485794	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534561867	chr1:224485830-224485831	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs553112412	chr1:224485835-224485836	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs148398450	chr1:224485842-224485843	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs535146552	chr1:224485911-224485912	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs556562763	chr1:224485979-224485980	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs574849909	chr1:224486027-224486028	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs375238830	chr1:224486114-224486115	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs558210358	chr1:224486122-224486123	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs186519967	chr1:224486148-224486149	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs190292214	chr1:224486149-224486150	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224431200-224490400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224433400-224516200	Weak transcription	Fetal Heart	heart
3	chr1:224439800-224501600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:224461200-224505600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr1:224465000-224487600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:224465000-224488000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:224465000-224504400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:224465000-224504400	Strong transcription	Liver	Liver
9	chr1:224465000-224505200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:224465000-224505600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:224465200-224487000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:224465400-224505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:224466200-224487800	Strong transcription	NH-A	brain
14	chr1:224466400-224505400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr1:224466400-224505400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:224466400-224505600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:224466600-224505600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:224466800-224499200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:224467600-224484600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:224468000-224505200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:224468200-224496000	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:224468600-224500000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:224469800-224485600	Strong transcription	Fetal Intestine Large	intestine
24	chr1:224469800-224493200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:224473000-224496200	Strong transcription	Dnd41	blood
26	chr1:224473200-224497400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:224473600-224505400	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:224473600-224505400	Strong transcription	Fetal Thymus	thymus
29	chr1:224474000-224488000	Strong transcription	Primary B cells from cord blood	blood
30	chr1:224474400-224497200	Weak transcription	Stomach Mucosa	stomach
31	chr1:224474600-224496000	Strong transcription	Adipose Nuclei	Adipose
32	chr1:224474600-224498000	Strong transcription	Primary T cells from cord blood	blood
33	chr1:224475600-224505800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:224476000-224496200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:224476000-224505600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:224476000-224506200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:224476400-224505600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:224476600-224500000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:224476600-224505600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:224476600-224506200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:224477400-224486000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:224477400-224505800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:224478000-224499600	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr1:224478400-224496000	Strong transcription	K562	blood
45	chr1:224478400-224501000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr1:224478400-224504800	Strong transcription	Fetal Muscle Trunk	muscle
47	chr1:224478400-224505400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:224478600-224488000	Strong transcription	Osteobl	bone
49	chr1:224478600-224496000	Strong transcription	Primary hematopoietic stem cells	blood
50	chr1:224478600-224498200	Strong transcription	Fetal Brain Female	brain

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