Variant report

Variant	nsv945433
Chromosome Location	chr1:247012707-247015035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:247012945-247013122	GM12878	blood:	n/a	n/a
2	CTCF	chr1:247013849-247013884	GM10266	blood:	n/a	n/a
3	FOS	chr1:247013977-247014194	HUVEC	blood vessel:	n/a	n/a
4	MYC	chr1:247014071-247014076	MCF-7	breast:	n/a	n/a
5	MYC	chr1:247014083-247014110	MCF-7	breast:	n/a	n/a
6	POLR2A	chr1:247014000-247014004	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr1:247013969-247014083	MCF-7	breast:	n/a	n/a
8	POLR2A	chr1:247013892-247014046	ProgFib	skin:	n/a	n/a
9	POLR2A	chr1:247014057-247014089	K562	blood:	n/a	n/a
10	POLR2A	chr1:247014017-247014139	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:247014184-247014236	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr1:247014098-247014110	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr1:247011824-247013038	K562	blood:	n/a	n/a
14	POLR2A	chr1:247013304-247013603	K562	blood:	n/a	n/a
15	POLR2A	chr1:247013279-247013577	K562	blood:	n/a	n/a
16	POLR2A	chr1:247013298-247013604	K562	blood:	n/a	n/a
17	POLR2A	chr1:247014013-247014037	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr1:247013173-247013311	K562	blood:	n/a	n/a
19	POLR2A	chr1:247012995-247013061	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:247014021-247014034	K562	blood:	n/a	n/a
21	POLR2A	chr1:247013363-247013515	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:247012865-247012968	HepG2	liver:	n/a	n/a
23	STAT3	chr1:247013235-247013321	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:247014087..247017239-chr1:247019400..247022129,3	K562	blood:

No data

Variant related genes	Relation type
AHCTF1	TF binding region

Extended variants
information (count: 119 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6426183	chr1:247012724-247012725	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569266035	chr1:247012755-247012756	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184240348	chr1:247012763-247012764	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146002900	chr1:247012818-247012819	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548342591	chr1:247012819-247012820	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540500286	chr1:247012832-247012833	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139900720	chr1:247012887-247012888	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371095250	chr1:247012897-247012898	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200762494	chr1:247012904-247012905	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138284466	chr1:247012919-247012920	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371948895	chr1:247012939-247012940	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146913959	chr1:247012943-247012944	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375402511	chr1:247012960-247012961	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369507349	chr1:247012962-247012963	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs55794479	chr1:247012980-247012981	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546280276	chr1:247012985-247012986	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144318625	chr1:247013024-247013025	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs375362186	chr1:247013040-247013041	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs148103547	chr1:247013048-247013049	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs542190722	chr1:247013087-247013088	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs561860295	chr1:247013103-247013104	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs527553101	chr1:247013106-247013107	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs369759637	chr1:247013128-247013129	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs373496461	chr1:247013158-247013159	Strong transcription Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs547286727	chr1:247013188-247013189	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs150761910	chr1:247013191-247013192	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs142641898	chr1:247013202-247013203	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs41308156	chr1:247013203-247013204	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs375742788	chr1:247013251-247013252	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs201021519	chr1:247013258-247013259	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs145462531	chr1:247013261-247013262	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs532869215	chr1:247013291-247013292	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs142571678	chr1:247013340-247013341	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs368999735	chr1:247013366-247013367	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs142569004	chr1:247013384-247013385	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs373338270	chr1:247013387-247013388	Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs147968469	chr1:247013406-247013407	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs569404964	chr1:247013408-247013409	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs192835030	chr1:247013424-247013425	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs150394496	chr1:247013445-247013446	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs267598462	chr1:247013453-247013454	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs143303729	chr1:247013492-247013493	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs376171651	chr1:247013516-247013517	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs189451209	chr1:247013533-247013534	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs142603415	chr1:247013543-247013544	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs139947110	chr1:247013549-247013550	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs150710000	chr1:247013562-247013563	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs184863324	chr1:247013576-247013577	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs556728227	chr1:247013586-247013587	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs149899496	chr1:247013595-247013596	Weak transcription Strong transcription Enhancers Flanking Active TSS	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:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247000200-247020200	Weak transcription	Spleen	Spleen
2	chr1:247001400-247016400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:247001400-247020000	Weak transcription	Brain Substantia Nigra	brain
4	chr1:247002000-247038200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:247002200-247031400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:247002200-247033800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:247002200-247034200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:247002200-247082400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:247002400-247081000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:247002800-247032600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:247002800-247043200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:247003000-247015200	Weak transcription	Fetal Heart	heart
13	chr1:247003000-247015200	Weak transcription	NHLF	lung
14	chr1:247003000-247018600	Weak transcription	Fetal Brain Male	brain
15	chr1:247003200-247015200	Weak transcription	Esophagus	oesophagus
16	chr1:247003200-247020400	Weak transcription	Gastric	stomach
17	chr1:247003200-247029200	Strong transcription	Fetal Thymus	thymus
18	chr1:247003200-247042200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:247003200-247042800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:247003400-247022600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:247003400-247043000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:247003400-247044600	Strong transcription	Dnd41	blood
23	chr1:247004000-247013600	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:247004000-247022200	Strong transcription	Fetal Intestine Large	intestine
25	chr1:247004000-247040800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:247004000-247041200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr1:247004000-247042800	Strong transcription	Primary T cells from cord blood	blood
28	chr1:247004000-247053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:247004200-247013000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:247004200-247013000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:247004200-247013200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:247004200-247013400	Strong transcription	HSMMtube	muscle
33	chr1:247004200-247018400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:247004200-247021200	Strong transcription	A549	lung
35	chr1:247004200-247025200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:247004200-247025400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr1:247004200-247042400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr1:247004200-247042800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:247004200-247043000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:247004200-247044400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:247004200-247044400	Strong transcription	Liver	Liver
42	chr1:247004200-247083400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:247004400-247013000	Strong transcription	Hela-S3	cervix
44	chr1:247004400-247013200	Strong transcription	HSMM	muscle
45	chr1:247004400-247025200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:247004400-247025200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr1:247004400-247025400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:247004400-247025600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:247004400-247043000	Strong transcription	Adipose Nuclei	Adipose
50	chr1:247004400-247044600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links