Variant report

Variant	nsv946539
Chromosome Location	chr1:184793020-184794837
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	CTCF	chr1:184793100-184793250	Caco-2	colon:	n/a	n/a
2	EBF1	chr1:184793894-184794360	GM12878	blood:	n/a	chr1:184794014-184794025
3	EBF1	chr1:184793130-184793344	GM12878	blood:	n/a	chr1:184793286-184793296 chr1:184793285-184793296 chr1:184793287-184793296 chr1:184793285-184793298
4	FAM48A	chr1:184794079-184794198	GM12878	blood:	n/a	n/a
5	FOS	chr1:184793883-184794147	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr1:184793966-184794080	MCF10A-Er-Src	breast:	n/a	n/a
7	NFE2	chr1:184794535-184794603	GM12878	blood:	n/a	n/a
8	NFIC	chr1:184793764-184794235	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:184790701-184794355	K562	blood:	n/a	n/a
10	POLR2A	chr1:184793265-184793306	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr1:184794826-184795966	K562	blood:	n/a	n/a
12	RELA	chr1:184793849-184794254	GM12878	blood:	n/a	n/a
13	RELA	chr1:184793710-184794415	GM12891	blood:	n/a	n/a
14	RUNX3	chr1:184793803-184794230	GM12878	blood:	n/a	n/a
15	RUNX3	chr1:184794683-184795663	GM12878	blood:	n/a	n/a
16	SPI1	chr1:184794688-184795195	HL-60	blood:	n/a	chr1:184794942-184794955
17	SPI1	chr1:184794804-184794977	K562	blood:	n/a	chr1:184794942-184794955
18	SPI1	chr1:184794115-184794363	K562	blood:	n/a	chr1:184794303-184794312
19	SPI1	chr1:184794093-184794380	GM12878	blood:	n/a	chr1:184794303-184794312
20	SPI1	chr1:184794116-184794388	GM12891	blood:	n/a	chr1:184794303-184794312
21	SPI1	chr1:184793981-184794461	GM12891	blood:	n/a	chr1:184794002-184794011 chr1:184794303-184794312 chr1:184794003-184794010 chr1:184794000-184794013
22	SPI1	chr1:184794009-184794489	HL-60	blood:	n/a	chr1:184794303-184794312
23	SPI1	chr1:184794731-184795111	GM12891	blood:	n/a	chr1:184794942-184794955
24	STAT3	chr1:184793861-184794283	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr1:184793872-184794146	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr1:184793787-184794445	MCF10A-Er-Src	breast:	n/a	chr1:184793815-184793822
27	STAT3	chr1:184793868-184794184	MCF10A-Er-Src	breast:	n/a	n/a
28	WRNIP1	chr1:184793405-184793708	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:184789487..184792296-chr1:184793827..184795341,2	K562	blood:
2	chr1:184794140..184796874-chr1:184950845..184952866,2	MCF-7	breast:
3	chr1:184792419..184794231-chr1:184807595..184809855,2	K562	blood:

Variant related genes	Relation type
RNU7-13P	TF binding region
ENSG00000252222	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556468233	chr1:184793038-184793039	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs574380463	chr1:184793092-184793093	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs140492447	chr1:184793095-184793096	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs554566170	chr1:184793126-184793127	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs113423985	chr1:184793147-184793148	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs540757312	chr1:184793149-184793150	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs565215019	chr1:184793150-184793151	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs373781314	chr1:184793178-184793179	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs577416065	chr1:184793223-184793224	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs558386682	chr1:184793225-184793226	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs77454357	chr1:184793274-184793275	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs180784032	chr1:184793330-184793331	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs148165508	chr1:184793331-184793332	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs76457634	chr1:184793336-184793337	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs117250112	chr1:184793346-184793347	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs150247237	chr1:184793354-184793355	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs567498	chr1:184793404-184793405	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570451058	chr1:184793433-184793434	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs12564543	chr1:184793449-184793450	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs28509313	chr1:184793460-184793461	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs549712962	chr1:184793483-184793484	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs541843521	chr1:184793504-184793505	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs535377673	chr1:184793523-184793524	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs184950386	chr1:184793578-184793579	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs572932422	chr1:184793600-184793601	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs533939278	chr1:184793615-184793616	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs79656000	chr1:184793637-184793638	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs78497257	chr1:184793639-184793640	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs78232826	chr1:184793647-184793648	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs563094742	chr1:184793651-184793652	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs138860268	chr1:184793652-184793653	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs542572494	chr1:184793707-184793708	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs76374190	chr1:184793744-184793745	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs569842247	chr1:184793745-184793746	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs143541634	chr1:184793752-184793753	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs191120432	chr1:184793771-184793772	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs531329422	chr1:184793801-184793802	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs549432068	chr1:184793805-184793806	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs181944030	chr1:184793826-184793827	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs529033917	chr1:184793834-184793835	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs547336252	chr1:184793917-184793918	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs563946676	chr1:184793918-184793919	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs528245675	chr1:184793929-184793930	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs368152396	chr1:184793931-184793932	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs565630856	chr1:184793943-184793944	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs187634299	chr1:184793955-184793956	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs191566406	chr1:184793986-184793987	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs568578291	chr1:184794044-184794045	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs570793734	chr1:184794086-184794087	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs533846277	chr1:184794163-184794164	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Bladder cancer	19088036	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
Urothelial carcinoma	21177765	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184756800-184794000	Weak transcription	Thymus	Thymus
2	chr1:184768000-184809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:184772400-184801800	Weak transcription	Primary T cells from cord blood	blood
4	chr1:184773200-184809400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:184775600-184796800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:184775800-184794000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:184781200-184793400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:184781600-184793400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:184783000-184807800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:184783200-184796400	Weak transcription	NHLF	lung
11	chr1:184783200-184796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:184783200-184796800	Weak transcription	NHDF-Ad	bronchial
13	chr1:184783200-184809200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:184783400-184803200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:184784000-184793200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:184784200-184794000	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:184785400-184801200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:184786000-184797800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:184786600-184796000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:184786600-184805200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:184786800-184793600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:184787400-184794200	Strong transcription	Stomach Smooth Muscle	stomach
23	chr1:184787800-184796800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:184787800-184799000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:184788000-184797400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:184788200-184796200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:184788600-184796800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:184789400-184793800	Genic enhancers	Fetal Muscle Leg	muscle
29	chr1:184789600-184793600	Genic enhancers	Colon Smooth Muscle	Colon
30	chr1:184789800-184802000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:184790000-184793400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:184790200-184809600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:184790400-184793600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:184790800-184793800	Genic enhancers	Fetal Heart	heart
35	chr1:184791000-184793800	Genic enhancers	Left Ventricle	heart
36	chr1:184791000-184795400	Enhancers	Psoas Muscle	Psoas
37	chr1:184791000-184797000	Enhancers	Right Atrium	heart
38	chr1:184791200-184793400	Strong transcription	Esophagus	oesophagus
39	chr1:184791200-184793600	Weak transcription	Fetal Thymus	thymus
40	chr1:184791400-184795000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:184791400-184795200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:184791600-184796800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:184791800-184796000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr1:184791800-184796800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:184792000-184793400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:184792000-184793600	Genic enhancers	Rectal Smooth Muscle	rectum
47	chr1:184792200-184793400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:184792200-184793400	Genic enhancers	Monocytes-CD14+_RO01746	blood
49	chr1:184792200-184795200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:184792200-184795800	Enhancers	Primary monocytes fromperipheralblood	blood

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