Variant report

Variant	nsv947163
Chromosome Location	chr1:227448485-227455052
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	ARID3A	chr1:227448086-227448709	K562	blood:	n/a	n/a
2	CBX3	chr1:227448012-227448616	K562	blood:	n/a	n/a
3	CCNT2	chr1:227448099-227448516	K562	blood:	n/a	chr1:227448339-227448359
4	CEBPB	chr1:227448026-227448660	K562	blood:	n/a	n/a
5	CEBPD	chr1:227447950-227448584	K562	blood:	n/a	n/a
6	CEBPD	chr1:227447955-227448536	K562	blood:	n/a	n/a
7	EP300	chr1:227450141-227450173	K562	blood:	n/a	n/a
8	EP300	chr1:227448014-227448566	K562	blood:	n/a	chr1:227448019-227448029
9	EP300	chr1:227450244-227450256	GM12878	blood:	n/a	n/a
10	GATA1	chr1:227447596-227448841	PBDE	blood:	n/a	chr1:227448479-227448489 chr1:227448480-227448489 chr1:227448350-227448360 chr1:227448347-227448359 chr1:227448612-227448628 chr1:227448478-227448490 chr1:227448480-227448487 chr1:227448339-227448356 chr1:227448526-227448536 chr1:227448478-227448491 chr1:227448612-227448628 chr1:227448350-227448357
11	GATA2	chr1:227448060-227448551	K562	blood:	n/a	chr1:227448479-227448489 chr1:227448480-227448489 chr1:227448350-227448360 chr1:227448347-227448359 chr1:227448478-227448490 chr1:227448480-227448487 chr1:227448339-227448356 chr1:227448526-227448536 chr1:227448478-227448491 chr1:227448350-227448357
12	GATA3	chr1:227454758-227455446	SK-N-SH	brain:	n/a	chr1:227455042-227455049 chr1:227455042-227455049 chr1:227455192-227455204 chr1:227455191-227455198 chr1:227455042-227455049
13	GATA3	chr1:227452110-227452141	SH-SY5Y	brain:	n/a	n/a
14	GATA3	chr1:227454805-227455472	SK-N-SH	brain:	n/a	chr1:227455042-227455049 chr1:227455042-227455049 chr1:227455192-227455204 chr1:227455191-227455198 chr1:227455042-227455049
15	GATA3	chr1:227454950-227455058	SH-SY5Y	brain:	n/a	chr1:227455042-227455049 chr1:227455042-227455049 chr1:227455042-227455049
16	GATA3	chr1:227454209-227454467	SH-SY5Y	brain:	n/a	n/a
17	HMGN3	chr1:227448162-227448516	K562	blood:	n/a	chr1:227448481-227448488
18	IRF1	chr1:227447557-227448532	K562	blood:	n/a	chr1:227447958-227447972 chr1:227448452-227448466 chr1:227447956-227447969 chr1:227447919-227447929 chr1:227448452-227448465 chr1:227447915-227447929 chr1:227447958-227447968
19	IRF1	chr1:227453808-227453821	K562	blood:	n/a	n/a
20	JUND	chr1:227448148-227448531	K562	blood:	n/a	n/a
21	KAP1	chr1:227454727-227454903	K562	blood:	n/a	n/a
22	MXI1	chr1:227448108-227448488	K562	blood:	n/a	chr1:227448202-227448211
23	MYC	chr1:227448114-227448544	K562	blood:	n/a	n/a
24	NFYB	chr1:227448089-227448494	K562	blood:	n/a	n/a
25	POLR2A	chr1:227453109-227453274	A549	lung:	n/a	n/a
26	RCOR1	chr1:227448039-227448641	K562	blood:	n/a	n/a
27	STAT5A	chr1:227447995-227448566	K562	blood:	n/a	chr1:227448184-227448192
28	TAL1	chr1:227448027-227448778	K562	blood:	n/a	chr1:227448339-227448357
29	TBL1XR1	chr1:227451937-227451956	K562	blood:	n/a	n/a
30	TBL1XR1	chr1:227447985-227448518	K562	blood:	n/a	n/a
31	TEAD4	chr1:227447960-227448525	K562	blood:	n/a	n/a
32	TEAD4	chr1:227447976-227448555	K562	blood:	n/a	n/a
33	UBTF	chr1:227448060-227448492	K562	blood:	n/a	n/a
34	ZNF384	chr1:227453773-227453854	GM12878	blood:	n/a	n/a
35	ZNF384	chr1:227448070-227448807	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:227454247..227456630-chr1:227461574..227463571,2	K562	blood:
2	chr1:227441285..227444497-chr1:227452902..227455834,3	K562	blood:
3	chr1:227447102..227448619-chr1:227452855..227454756,2	K562	blood:
4	chr1:227453182..227454826-chr1:227468013..227470218,2	MCF-7	breast:
5	chr1:227447057..227450743-chr1:227504946..227508409,3	MCF-7	breast:
6	chr1:227446907..227449535-chr1:227450206..227452004,2	K562	blood:
7	chr1:227446907..227449535-chr1:227450206..227452004,2	K562	blood:
8	chr1:227453649..227455713-chr1:227502343..227504921,2	K562	blood:

Variant related genes	Relation type
ENSG00000236636	TF binding region
ENSG00000236636	chromatin interactions
ENSG00000143776	chromatin interactions

Extended variants
information (count: 235 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536561602	chr1:227448501-227448502	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs192455315	chr1:227448519-227448520	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs569862702	chr1:227448526-227448527	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs537286648	chr1:227448533-227448534	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs558355600	chr1:227448535-227448536	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs576206627	chr1:227448585-227448586	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs142345801	chr1:227448628-227448629	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184016807	chr1:227448658-227448659	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552946957	chr1:227448683-227448684	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs386417862	chr1:227448825-227448826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs10670010	chr1:227448826-227448827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9426618	chr1:227448829-227448830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs386369874	chr1:227448833-227448834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs397729082	chr1:227448834-227448835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78876865	chr1:227448835-227448836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2718212	chr1:227448837-227448838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138733857	chr1:227448843-227448844	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542913681	chr1:227448976-227448977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561290857	chr1:227449067-227449068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs150763842	chr1:227449074-227449075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112904864	chr1:227449076-227449077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs543642285	chr1:227449082-227449083	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs188951088	chr1:227449086-227449087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs532658814	chr1:227449154-227449155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540405022	chr1:227449217-227449218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11806482	chr1:227449227-227449228	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529455705	chr1:227449229-227449230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559701046	chr1:227449319-227449320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369491306	chr1:227449330-227449331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563009354	chr1:227449403-227449404	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530164225	chr1:227449434-227449435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs34770953	chr1:227449508-227449509	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542708139	chr1:227449589-227449590	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs572586755	chr1:227449590-227449591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548494123	chr1:227449686-227449687	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372898359	chr1:227449726-227449727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs531600286	chr1:227449740-227449741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs146080152	chr1:227449748-227449749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539868468	chr1:227449775-227449776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs35310698	chr1:227449788-227449789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs144601497	chr1:227449789-227449790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs570003163	chr1:227449812-227449813	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537223931	chr1:227449874-227449875	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372476444	chr1:227449888-227449889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs141952145	chr1:227449910-227449911	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs35707565	chr1:227449911-227449912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs368263213	chr1:227449912-227449913	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200499079	chr1:227449913-227449914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs184371976	chr1:227449951-227449952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs554964816	chr1:227449998-227449999	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	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
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227414000-227459200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:227414200-227453800	Weak transcription	HSMM	muscle
3	chr1:227415800-227456800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:227431600-227486200	Weak transcription	NHDF-Ad	bronchial
5	chr1:227432000-227459200	Weak transcription	Fetal Lung	lung
6	chr1:227432200-227455400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:227432800-227455600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:227433000-227469000	Weak transcription	Aorta	Aorta
9	chr1:227433200-227452800	Weak transcription	Ovary	ovary
10	chr1:227434000-227453400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:227434200-227455400	Weak transcription	Left Ventricle	heart
12	chr1:227434200-227455400	Weak transcription	Right Ventricle	heart
13	chr1:227434200-227455800	Weak transcription	Adipose Nuclei	Adipose
14	chr1:227434600-227468800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:227434800-227458400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:227435000-227457000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:227435600-227453600	Weak transcription	Fetal Intestine Small	intestine
18	chr1:227438800-227449400	Weak transcription	Right Atrium	heart
19	chr1:227440000-227456600	Weak transcription	HepG2	liver
20	chr1:227440200-227456800	Weak transcription	HUVEC	blood vessel
21	chr1:227441200-227450000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:227441800-227449600	Weak transcription	A549	lung
23	chr1:227441800-227452000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:227442400-227449600	Weak transcription	Brain Angular Gyrus	brain
25	chr1:227443400-227474000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:227445800-227458400	Weak transcription	NHEK	skin
27	chr1:227446000-227448600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:227446600-227448600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:227447000-227456800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:227447200-227452600	Weak transcription	Brain Substantia Nigra	brain
31	chr1:227447200-227473600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:227447400-227452800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:227447400-227455000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:227448000-227448800	Flanking Active TSS	K562	blood
35	chr1:227448400-227448600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:227448400-227452400	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:227448400-227453600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:227448400-227456400	Weak transcription	Psoas Muscle	Psoas
39	chr1:227448600-227457200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:227448800-227449800	Enhancers	K562	blood
41	chr1:227449400-227449600	Enhancers	Brain Anterior Caudate	brain
42	chr1:227449400-227449600	Enhancers	Right Atrium	heart
43	chr1:227449400-227449600	Enhancers	NH-A	brain
44	chr1:227449600-227450000	Enhancers	A549	lung
45	chr1:227449600-227450200	Enhancers	Brain Angular Gyrus	brain
46	chr1:227449600-227452800	Weak transcription	Brain Anterior Caudate	brain
47	chr1:227449600-227473600	Weak transcription	NH-A	brain
48	chr1:227449800-227453600	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:227449800-227465200	Weak transcription	K562	blood
50	chr1:227450200-227451200	Weak transcription	Brain Angular Gyrus	brain

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