Variant report

Variant	esv9163
Chromosome Location	chr12:104379439-104380844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:104380744-104380774	IMR90	lung:	n/a	n/a
2	CTCF	chr12:104380810-104380874	GM13976	blood:	n/a	n/a
3	CTCF	chr12:104380740-104380890	AG09319	gingival:	n/a	n/a
4	MAFK	chr12:104380688-104380888	IMR90	lung:	n/a	n/a
5	MXI1	chr12:104380386-104380968	IMR90	lung:	n/a	n/a
6	NFIC	chr12:104380473-104380851	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr12:104380566-104380950	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr12:104380547-104380601	K562	blood:	n/a	n/a
9	POLR2A	chr12:104379437-104379500	MCF-7	breast:	n/a	n/a
10	RAD21	chr12:104380595-104380946	IMR90	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSP90B1-3	chr12:104380371-104380803	NONHSAT030404
2	lnc-HSP90B1-2	chr12:104379642-104379794	l_718_chr12:104372013-104376103
3	lnc-HSP90B1-3	chr12:104380012-104380243	NONHSAT030404

No data

Variant related genes	Relation type
TDG	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142534613	chr12:104379441-104379442	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs61756223	chr12:104379452-104379453	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530652981	chr12:104379454-104379455	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs79676424	chr12:104379455-104379456	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs139535385	chr12:104379464-104379465	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs547122152	chr12:104379483-104379484	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs186233269	chr12:104379497-104379498	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs201367737	chr12:104379531-104379532	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200835298	chr12:104379541-104379542	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376145737	chr12:104379543-104379544	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546937772	chr12:104379565-104379566	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566805166	chr12:104379567-104379568	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190638076	chr12:104379615-104379616	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4135129	chr12:104379728-104379729	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs150368458	chr12:104379746-104379747	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs538337822	chr12:104379753-104379754	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs4135130	chr12:104379785-104379786	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs572713727	chr12:104379805-104379806	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568507342	chr12:104379810-104379811	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4135131	chr12:104379851-104379852	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs553330683	chr12:104379852-104379853	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573158810	chr12:104379854-104379855	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4135132	chr12:104379882-104379883	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191023426	chr12:104379885-104379886	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4135133	chr12:104379890-104379891	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112399953	chr12:104379901-104379902	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544336319	chr12:104379902-104379903	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560819975	chr12:104379906-104379907	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529671631	chr12:104379910-104379911	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375821453	chr12:104379913-104379914	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376468052	chr12:104379920-104379921	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532685881	chr12:104379923-104379924	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552545876	chr12:104379962-104379963	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4135134	chr12:104379969-104379970	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569440944	chr12:104379978-104379979	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531799943	chr12:104379979-104379980	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548709418	chr12:104379983-104379984	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182675963	chr12:104379987-104379988	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4135135	chr12:104379988-104379989	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187802208	chr12:104379989-104379990	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192216659	chr12:104379991-104379992	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4135136	chr12:104379994-104379995	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201768948	chr12:104379999-104380000	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570814363	chr12:104380019-104380020	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs538934457	chr12:104380046-104380047	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs4135137	chr12:104380078-104380079	Strong transcription Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575442771	chr12:104380087-104380088	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs113192980	chr12:104380089-104380090	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs4135138	chr12:104380110-104380111	Strong transcription Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs554720277	chr12:104380142-104380143	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104360800-104381000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:104361600-104385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:104362000-104382600	Weak transcription	Esophagus	oesophagus
4	chr12:104362000-104384400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
6	chr12:104362200-104384800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:104363800-104382400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:104364000-104381000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:104364600-104383800	Strong transcription	Dnd41	blood
10	chr12:104366600-104383600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:104366800-104380400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:104366800-104381600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:104367600-104381000	Strong transcription	GM12878-XiMat	blood
14	chr12:104368200-104380600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:104368800-104381000	Strong transcription	Primary hematopoietic stem cells	blood
16	chr12:104368800-104381600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr12:104369200-104381000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:104369200-104381000	Strong transcription	Fetal Muscle Trunk	muscle
19	chr12:104369200-104381000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr12:104369200-104383800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:104369400-104380800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:104369400-104381000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:104369400-104381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:104369600-104381600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:104369800-104383600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:104370000-104379600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:104370000-104381600	Strong transcription	Fetal Thymus	thymus
28	chr12:104370200-104381000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:104370200-104381000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:104370200-104381000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:104370200-104384600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:104370400-104379800	Strong transcription	K562	blood
33	chr12:104370400-104380400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:104370400-104380800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:104370400-104381000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:104370400-104381000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:104370400-104381000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:104370400-104381000	Strong transcription	HSMM	muscle
39	chr12:104370400-104381000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr12:104370400-104383600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:104370400-104385000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:104370400-104385600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:104370600-104380000	Strong transcription	NH-A	brain
44	chr12:104370600-104380400	Strong transcription	Osteobl	bone
45	chr12:104370600-104380800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:104370600-104380800	Strong transcription	HSMMtube	muscle
47	chr12:104370600-104381000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:104370600-104381000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr12:104370600-104381000	Strong transcription	Fetal Intestine Large	intestine
50	chr12:104370600-104381000	Strong transcription	Fetal Muscle Leg	muscle

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