Variant report

Variant	nsv961462
Chromosome Location	chr2:101183451-101186190
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	BATF	chr2:101185351-101185773	GM12878	blood:	n/a	chr2:101185582-101185593
2	BATF	chr2:101185416-101185768	GM12878	blood:	n/a	chr2:101185582-101185593
3	CTCF	chr2:101185100-101185250	GM12875	blood:	n/a	n/a
4	CTCF	chr2:101185594-101185626	GM20000	blood:	n/a	n/a
5	EP300	chr2:101185442-101185702	GM12878	blood:	n/a	n/a
6	FOS	chr2:101185569-101185578	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr2:101185564-101185705	MCF10A-Er-Src	breast:	n/a	n/a
8	FOXA1	chr2:101183476-101183836	HepG2	liver:	n/a	n/a
9	FOXA2	chr2:101183482-101183749	HepG2	liver:	n/a	n/a
10	IRF4	chr2:101185405-101185728	GM12878	blood:	n/a	n/a
11	IRF4	chr2:101185402-101185723	GM12878	blood:	n/a	n/a
12	JUND	chr2:101185493-101185732	HepG2	liver:	n/a	chr2:101185580-101185591
13	MEF2A	chr2:101185466-101185784	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:101185100-101185122	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:101183653-101183734	MCF10A-Er-Src	breast:	n/a	n/a
16	RUNX3	chr2:101185448-101185795	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:101178645..101181337-chr2:101184679..101187696,4	MCF-7	breast:
2	chr2:101177817..101179680-chr2:101183661..101186374,4	K562	blood:
3	chr2:101181862..101183562-chr2:101202599..101205264,2	MCF-7	breast:

Variant related genes	Relation type
PDCL3	TF binding region
ENSG00000115539	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2946589	chr2:101183475-101183476	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142673409	chr2:101183484-101183485	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs146041912	chr2:101183515-101183516	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs2971007	chr2:101183527-101183528	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs75814398	chr2:101183528-101183529	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs139970204	chr2:101183562-101183563	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs193051688	chr2:101183571-101183572	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs183793816	chr2:101183631-101183632	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs76385337	chr2:101183656-101183657	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs549969697	chr2:101183761-101183762	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573104820	chr2:101183768-101183769	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs376252933	chr2:101183769-101183770	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs55897210	chr2:101183773-101183774	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs564612127	chr2:101183778-101183779	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs568170863	chr2:101183814-101183815	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs373642820	chr2:101183818-101183819	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs143406989	chr2:101183885-101183886	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549911563	chr2:101183899-101183900	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs188281813	chr2:101183921-101183922	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536003110	chr2:101184065-101184066	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554301374	chr2:101184069-101184070	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549238491	chr2:101184080-101184081	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559806882	chr2:101184099-101184100	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs191932163	chr2:101184149-101184150	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs60819042	chr2:101184152-101184153	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565918826	chr2:101184164-101184165	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs146237845	chr2:101184211-101184212	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184135734	chr2:101184259-101184260	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201116072	chr2:101184285-101184286	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs367993476	chr2:101184292-101184293	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539624687	chr2:101184315-101184316	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs386648572	chr2:101184336-101184337	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs13418741	chr2:101184337-101184338	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs191438975	chr2:101184345-101184346	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs184198664	chr2:101184346-101184347	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573167216	chr2:101184405-101184406	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376614272	chr2:101184407-101184408	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368125463	chr2:101184410-101184411	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs151038045	chr2:101184441-101184442	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs13027075	chr2:101184444-101184445	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs62155213	chr2:101184465-101184466	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs375675699	chr2:101184479-101184480	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563555847	chr2:101184556-101184557	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557352636	chr2:101184584-101184585	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529316386	chr2:101184637-101184638	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7594904	chr2:101184651-101184652	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs67061569	chr2:101184700-101184701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs72353643	chr2:101184775-101184776	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs58794174	chr2:101184779-101184780	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369668233	chr2:101184814-101184815	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101180200-101194400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:101180400-101183600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:101180400-101186200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:101180400-101187200	Weak transcription	Fetal Kidney	kidney
5	chr2:101180400-101188400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:101180600-101185200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:101180600-101187800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:101180600-101192600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:101180600-101192800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:101180600-101193400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:101180600-101194400	Weak transcription	NHDF-Ad	bronchial
12	chr2:101180600-101197800	Weak transcription	Stomach Mucosa	stomach
13	chr2:101180800-101187200	Weak transcription	K562	blood
14	chr2:101180800-101195600	Weak transcription	Fetal Heart	heart
15	chr2:101180800-101195800	Strong transcription	Fetal Stomach	stomach
16	chr2:101180800-101196800	Weak transcription	NHLF	lung
17	chr2:101180800-101197000	Weak transcription	Colonic Mucosa	Colon
18	chr2:101180800-101197200	Weak transcription	Small Intestine	intestine
19	chr2:101181000-101195800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr2:101181200-101191200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:101181400-101185200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr2:101181400-101187400	Weak transcription	Pancreas	Pancrea
23	chr2:101181400-101187800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:101181400-101188200	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:101181400-101195800	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:101181400-101196200	Weak transcription	Gastric	stomach
27	chr2:101181400-101196800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:101181600-101188200	Weak transcription	Esophagus	oesophagus
29	chr2:101181600-101196600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:101181600-101197200	Weak transcription	Brain Angular Gyrus	brain
31	chr2:101181800-101184400	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:101182000-101185400	Strong transcription	A549	lung
33	chr2:101182000-101194600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:101182600-101186200	Strong transcription	Brain Hippocampus Middle	brain
35	chr2:101182600-101187000	Strong transcription	Primary B cells from cord blood	blood
36	chr2:101182600-101187800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr2:101182600-101189200	Strong transcription	Brain Germinal Matrix	brain
38	chr2:101182600-101191600	Strong transcription	Dnd41	blood
39	chr2:101182600-101192800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:101182600-101193600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:101182600-101194200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:101182600-101195800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:101182600-101195800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:101182800-101183800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:101182800-101183800	Strong transcription	Hela-S3	cervix
46	chr2:101182800-101184000	Strong transcription	NHEK	skin
47	chr2:101182800-101184200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:101182800-101184200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:101182800-101184200	Strong transcription	Fetal Brain Male	brain
50	chr2:101182800-101184200	Strong transcription	Fetal Lung	lung

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