Variant report

Variant	nsv819098
Chromosome Location	chr3:141164361-141165148
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	IRF1	chr3:141164945-141165005	K562	blood:	n/a	n/a
2	MAFF	chr3:141164927-141165178	HepG2	liver:	n/a	chr3:141165020-141165038
3	MAFK	chr3:141164932-141165190	IMR90	lung:	n/a	chr3:141165022-141165037
4	MAFK	chr3:141164859-141165170	HepG2	liver:	n/a	chr3:141165022-141165037
5	MAFK	chr3:141164865-141165195	HepG2	liver:	n/a	chr3:141165022-141165037
6	MAX	chr3:141164640-141164771	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr3:141163702-141164793	K562	blood:	n/a	n/a
8	POLR2A	chr3:141164571-141164588	HepG2	liver:	n/a	n/a
9	POLR2A	chr3:141164010-141164607	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:141164025-141164697	GM12892	blood:	n/a	n/a
11	POLR2A	chr3:141161815-141164620	GM12878	blood:	n/a	n/a
12	TEAD4	chr3:141164554-141164835	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141153602..141155121-chr3:141161905..141164739,2	K562	blood:
2	chr3:141087300..141088860-chr3:141163731..141166703,2	K562	blood:

Variant related genes	Relation type
ZBTB38	TF binding region
ENSG00000177311	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199900819	chr3:141164374-141164375	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs370269619	chr3:141164376-141164377	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs200999282	chr3:141164426-141164427	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs202147729	chr3:141164429-141164430	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs112292119	chr3:141164463-141164464	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377451103	chr3:141164508-141164509	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs201146957	chr3:141164574-141164575	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs202159877	chr3:141164585-141164586	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2312195	chr3:141164624-141164625	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371143747	chr3:141164648-141164649	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200635055	chr3:141164675-141164676	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs79840656	chr3:141164710-141164711	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs565202072	chr3:141164727-141164728	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs532267086	chr3:141164759-141164760	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs61732445	chr3:141164761-141164762	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373979478	chr3:141164788-141164789	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs76129297	chr3:141164795-141164796	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs548554559	chr3:141164799-141164800	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs202059291	chr3:141164859-141164860	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs371260887	chr3:141164868-141164869	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs530246795	chr3:141164872-141164873	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs200973051	chr3:141164925-141164926	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs576340387	chr3:141164926-141164927	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs74686513	chr3:141164939-141164940	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs77404499	chr3:141164940-141164941	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs188079363	chr3:141164997-141164998	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs145038303	chr3:141165121-141165122	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21509527	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141132200-141171000	Weak transcription	Primary B cells from cord blood	blood
2	chr3:141155400-141170800	Weak transcription	Fetal Thymus	thymus
3	chr3:141156400-141166600	Strong transcription	Fetal Intestine Large	intestine
4	chr3:141159600-141165400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:141159800-141164600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:141160400-141165200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:141160400-141166000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:141160400-141166600	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:141160400-141166800	Strong transcription	A549	lung
10	chr3:141160400-141167400	Strong transcription	HSMM	muscle
11	chr3:141160400-141169600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:141160400-141174000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:141160600-141166600	Strong transcription	HepG2	liver
14	chr3:141160600-141166800	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr3:141160800-141166600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:141161000-141165000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:141161000-141165200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:141161000-141165800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:141161000-141166800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr3:141161000-141166800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr3:141161200-141164400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr3:141161200-141164600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:141161200-141164600	Genic enhancers	Osteobl	bone
24	chr3:141161200-141164800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr3:141161200-141164800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr3:141161200-141165000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:141161200-141165800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:141161200-141166000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:141161200-141166400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr3:141161200-141166600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr3:141161200-141166600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr3:141161200-141166600	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr3:141161200-141166600	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:141161200-141166800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr3:141161200-141166800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:141161200-141166800	Strong transcription	Adipose Nuclei	Adipose
37	chr3:141161200-141166800	Strong transcription	Liver	Liver
38	chr3:141161200-141166800	Strong transcription	Fetal Brain Female	brain
39	chr3:141161200-141166800	Strong transcription	GM12878-XiMat	blood
40	chr3:141161200-141167400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr3:141161200-141169000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:141161400-141164800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:141161400-141164800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:141161400-141166600	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr3:141161400-141166600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:141161400-141166600	Strong transcription	HSMMtube	muscle
47	chr3:141161400-141166800	Strong transcription	HUVEC	blood vessel
48	chr3:141161400-141166800	Strong transcription	NHEK	skin
49	chr3:141161400-141167000	Genic enhancers	NHLF	lung
50	chr3:141161600-141164400	Strong transcription	Primary T cells from cord blood	blood

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