Variant report

Variant	nsv10373
Chromosome Location	chr3:191076025-191078185
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	BACH1	chr3:191077719-191077728	K562	blood:	n/a	n/a
2	BHLHE40	chr3:191077897-191077906	GM12878	blood:	n/a	n/a
3	CEBPB	chr3:191075765-191076112	H1-hESC	embryonic stem cell:	n/a	n/a
4	EBF1	chr3:191077503-191077610	GM12878	blood:	n/a	n/a
5	EBF1	chr3:191076788-191077221	GM12878	blood:	n/a	n/a
6	FOS	chr3:191076806-191076938	MCF10A-Er-Src	breast:	n/a	chr3:191076923-191076932 chr3:191076921-191076928 chr3:191076922-191076933
7	FOS	chr3:191076741-191077072	MCF10A-Er-Src	breast:	n/a	chr3:191076923-191076932 chr3:191076921-191076928 chr3:191076922-191076933
8	FOS	chr3:191076741-191077067	MCF10A-Er-Src	breast:	n/a	chr3:191076923-191076932 chr3:191076921-191076928 chr3:191076922-191076933
9	FOS	chr3:191076715-191077072	MCF10A-Er-Src	breast:	n/a	chr3:191076923-191076932 chr3:191076921-191076928 chr3:191076922-191076933
10	IRF4	chr3:191077719-191078197	GM12878	blood:	n/a	n/a
11	JUND	chr3:191076754-191077096	H1-hESC	embryonic stem cell:	n/a	chr3:191076923-191076932 chr3:191076921-191076928 chr3:191076922-191076933
12	JUND	chr3:191075823-191076071	H1-hESC	embryonic stem cell:	n/a	n/a
13	MXI1	chr3:191077911-191077956	GM12878	blood:	n/a	n/a
14	NFIC	chr3:191076367-191077162	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:191077326-191077354	K562	blood:	n/a	n/a
16	POLR2A	chr3:191077415-191077447	HepG2	liver:	n/a	n/a
17	POLR2A	chr3:191077637-191077767	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr3:191076732-191077553	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr3:191077357-191077383	K562	blood:	n/a	n/a
20	POLR2A	chr3:191077395-191077525	K562	blood:	n/a	n/a
21	POLR2A	chr3:191077383-191078634	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr3:191075600-191076480	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr3:191078096-191078175	ProgFib	skin:	n/a	n/a
24	RCOR1	chr3:191077964-191078011	GM12878	blood:	n/a	n/a
25	RUNX3	chr3:191076342-191077016	GM12878	blood:	n/a	n/a
26	SMC3	chr3:191077991-191078046	GM12878	blood:	n/a	n/a
27	STAT1	chr3:191076683-191076801	GM12878	blood:	n/a	n/a
28	STAT3	chr3:191077323-191077490	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr3:191077760-191077960	MCF10A-Er-Src	breast:	n/a	n/a
30	TBP	chr3:191078050-191078149	GM12878	blood:	n/a	n/a
31	USF2	chr3:191077952-191077997	GM12878	blood:	n/a	n/a
32	WRNIP1	chr3:191077040-191077401	GM12878	blood:	n/a	n/a
33	ZNF143	chr3:191077404-191077504	GM12878	blood:	n/a	n/a
34	ZNF143	chr3:191076884-191076917	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:191049298..191052407-chr3:191074621..191077632,4	K562	blood:
2	chr3:191049478..191053328-chr3:191074760..191077632,3	K562	blood:

Variant related genes	Relation type
CCDC50	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576723654	chr3:191076035-191076036	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs545587772	chr3:191076039-191076040	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs181803448	chr3:191076043-191076044	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs184691571	chr3:191076103-191076104	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs541649764	chr3:191076128-191076129	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs149188167	chr3:191076153-191076154	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs35212323	chr3:191076166-191076167	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs544876832	chr3:191076167-191076168	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372212126	chr3:191076170-191076171	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs550433712	chr3:191076188-191076189	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs115052974	chr3:191076214-191076215	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs143513825	chr3:191076333-191076334	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs148013984	chr3:191076334-191076335	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs141665000	chr3:191076349-191076350	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs190230636	chr3:191076379-191076380	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs113126407	chr3:191076405-191076406	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs181414194	chr3:191076424-191076425	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs568638180	chr3:191076446-191076447	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs537741879	chr3:191076451-191076452	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs557588863	chr3:191076468-191076469	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs147143015	chr3:191076478-191076479	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs138602536	chr3:191076500-191076501	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs552671810	chr3:191076612-191076613	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs562584488	chr3:191076617-191076618	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs142944518	chr3:191076651-191076652	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs541490186	chr3:191076664-191076665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs555163794	chr3:191076682-191076683	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs575050038	chr3:191076692-191076693	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs544188118	chr3:191076814-191076815	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs186619073	chr3:191076844-191076845	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs543071	chr3:191076857-191076858	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs568978442	chr3:191076956-191076957	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs537544822	chr3:191076996-191076997	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs73185212	chr3:191076997-191076998	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs546208588	chr3:191077069-191077070	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs559474368	chr3:191077080-191077081	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs10564990	chr3:191077107-191077108	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs191063951	chr3:191077128-191077129	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs548676868	chr3:191077130-191077131	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs568677139	chr3:191077132-191077133	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs531167450	chr3:191077176-191077177	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs149936456	chr3:191077223-191077224	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs536926152	chr3:191077228-191077229	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs571149341	chr3:191077254-191077255	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs180848271	chr3:191077346-191077347	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs144001475	chr3:191077366-191077367	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs148745704	chr3:191077414-191077415	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs184912625	chr3:191077435-191077436	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs112265944	chr3:191077439-191077440	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs553739754	chr3:191077480-191077481	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191063000-191076600	Weak transcription	Brain Substantia Nigra	brain
2	chr3:191068600-191076600	Weak transcription	Fetal Kidney	kidney
3	chr3:191068800-191078800	Weak transcription	Fetal Brain Male	brain
4	chr3:191069800-191096000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr3:191071000-191088400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:191071200-191076800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:191071200-191078800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:191071200-191078800	Weak transcription	Lung	lung
9	chr3:191071200-191114000	Weak transcription	Colonic Mucosa	Colon
10	chr3:191071400-191078400	Weak transcription	Fetal Intestine Small	intestine
11	chr3:191071400-191078800	Weak transcription	Gastric	stomach
12	chr3:191071400-191078800	Weak transcription	Pancreas	Pancrea
13	chr3:191071400-191078800	Weak transcription	Spleen	Spleen
14	chr3:191071400-191094200	Weak transcription	Small Intestine	intestine
15	chr3:191071400-191097400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:191071400-191100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:191072400-191076400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:191072600-191100800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:191073200-191077600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:191073200-191078000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:191073400-191077600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:191073400-191077800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:191073400-191079200	Weak transcription	Fetal Thymus	thymus
24	chr3:191073600-191077400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:191073600-191077600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:191073600-191083000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr3:191073600-191090000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:191073800-191077400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr3:191073800-191079000	Weak transcription	Brain Angular Gyrus	brain
30	chr3:191074000-191077200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr3:191074200-191077600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr3:191074200-191078800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:191074400-191078600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:191074400-191079200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:191074600-191080400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:191074600-191092800	Weak transcription	Esophagus	oesophagus
37	chr3:191074600-191094000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:191074800-191078400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:191074800-191078800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:191074800-191078800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:191074800-191079200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:191074800-191080000	Strong transcription	HepG2	liver
43	chr3:191074800-191081800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr3:191074800-191083000	Strong transcription	Primary B cells from cord blood	blood
45	chr3:191074800-191085800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:191074800-191094200	Weak transcription	A549	lung
47	chr3:191075000-191077200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:191075000-191079000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:191075000-191082200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr3:191075000-191097400	Weak transcription	Thymus	Thymus

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