Variant report

Variant	esv1214939
Chromosome Location	chr3:195601781-195602180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr3:195601355-195602368	A549	lung:	n/a	n/a
2	PAX5	chr3:195601526-195602400	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:195601599-195602305	GM12878	blood:	n/a	n/a
4	SRF	chr3:195601626-195601928	GM12878	blood:	n/a	n/a
5	SRF	chr3:195601935-195602121	GM12878	blood:	n/a	n/a
6	SRF	chr3:195602124-195602318	GM12878	blood:	n/a	n/a
7	TCF3	chr3:195602012-195602344	GM12878	blood:	n/a	n/a
8	TCF3	chr3:195601604-195601928	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195596788..195599344-chr3:195602164..195605260,3	K562	blood:
2	chr3:195600801..195603776-chr3:195621809..195623311,2	MCF-7	breast:
3	chr3:195593517..195599119-chr3:195599450..195605625,8	MCF-7	breast:
4	chr3:195601763..195604584-chr3:195636723..195640516,3	K562	blood:
5	chr3:195601233..195610120-chr3:195632410..195638442,11	MCF-7	breast:
6	chr3:195593301..195599220-chr3:195600993..195605430,9	MCF-7	breast:

No data

Variant related genes	Relation type
TNK2	TF binding region
ENSG00000224614	chromatin interactions
ENSG00000226155	chromatin interactions
ENSG00000061938	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57282579	chr3:195601790-195601791	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs74940023	chr3:195601799-195601800	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs75648564	chr3:195601803-195601804	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs368576828	chr3:195601806-195601807	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs61220086	chr3:195601835-195601836	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs76835790	chr3:195601843-195601844	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs57419976	chr3:195601847-195601848	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs547410998	chr3:195601849-195601850	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs60454220	chr3:195601891-195601892	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs71617326	chr3:195601895-195601896	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs58467562	chr3:195601919-195601920	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs9853696	chr3:195601923-195601924	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs9853700	chr3:195601932-195601933	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs377570447	chr3:195601933-195601934	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs78025818	chr3:195601936-195601937	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs57229082	chr3:195601943-195601944	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs9876028	chr3:195601964-195601965	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs71617327	chr3:195601977-195601978	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs531685787	chr3:195601983-195601984	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs55938129	chr3:195601988-195601989	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs9876157	chr3:195602008-195602009	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs111776599	chr3:195602021-195602022	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs61230253	chr3:195602025-195602026	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs565816115	chr3:195602027-195602028	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs557964731	chr3:195602030-195602031	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs9853880	chr3:195602052-195602053	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs9876295	chr3:195602069-195602070	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs527685991	chr3:195602072-195602073	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs549176547	chr3:195602074-195602075	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs58959832	chr3:195602076-195602077	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs13067149	chr3:195602097-195602098	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs9868797	chr3:195602101-195602102	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs60997729	chr3:195602110-195602111	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs374052899	chr3:195602141-195602142	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs9868818	chr3:195602154-195602155	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs60876752	chr3:195602158-195602159	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs568099739	chr3:195602160-195602161	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs374792977	chr3:195602161-195602162	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Glioma	20126413	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195578400-195604800	Weak transcription	GM12878-XiMat	blood
2	chr3:195586800-195603200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:195586800-195608600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr3:195587000-195603200	Weak transcription	Primary B cells from cord blood	blood
5	chr3:195587000-195603800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:195587400-195604800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:195589000-195612000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:195589400-195621800	Weak transcription	Small Intestine	intestine
9	chr3:195589800-195616200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr3:195589800-195618800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:195589800-195619600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:195590000-195607200	Strong transcription	Thymus	Thymus
13	chr3:195590000-195607400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr3:195590000-195615600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:195590200-195604000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:195590200-195607400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr3:195590200-195615800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr3:195590400-195602600	Weak transcription	K562	blood
19	chr3:195590400-195603000	Strong transcription	Fetal Intestine Small	intestine
20	chr3:195590400-195604600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:195590600-195604800	Weak transcription	NHDF-Ad	bronchial
22	chr3:195590600-195617000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:195591000-195603200	Weak transcription	Psoas Muscle	Psoas
24	chr3:195592000-195607000	Strong transcription	Lung	lung
25	chr3:195592200-195615800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:195592200-195616200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:195592400-195607600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr3:195592600-195607200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:195593200-195607200	Strong transcription	Fetal Thymus	thymus
30	chr3:195594200-195602600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr3:195595000-195604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:195595600-195608800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:195595600-195618800	Weak transcription	Fetal Kidney	kidney
34	chr3:195596600-195603600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:195597400-195611800	Strong transcription	Fetal Stomach	stomach
36	chr3:195597600-195604200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr3:195597600-195604800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:195597800-195602400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr3:195597800-195603600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:195597800-195603600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr3:195598200-195604400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:195598400-195603000	Weak transcription	Colonic Mucosa	Colon
43	chr3:195598400-195603000	Weak transcription	Dnd41	blood
44	chr3:195598600-195604400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr3:195598600-195604800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:195598600-195605200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:195598600-195605800	Weak transcription	HUVEC	blood vessel
48	chr3:195598800-195602400	Weak transcription	HSMM	muscle
49	chr3:195599000-195603000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr3:195599200-195605000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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