Variant report

Variant	esv3386049
Chromosome Location	chr9:104163886-104164213
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	POLR2A	chr9:104163901-104164170	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:104159627..104161244-chr9:104162690..104167076,3	K562	blood:
2	chr9:104163070..104164765-chr9:104190213..104192227,2	MCF-7	breast:
3	chr9:104156777..104159647-chr9:104161503..104163892,2	K562	blood:

Variant related genes	Relation type
MRPL50	TF binding region
ENSG00000136897	chromatin interactions
ENSG00000136872	chromatin interactions
ENSG00000136870	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191018777	chr9:104163894-104163895	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs73494946	chr9:104163990-104163991	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs566623437	chr9:104164001-104164002	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs75716012	chr9:104164006-104164007	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs568477125	chr9:104164029-104164030	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs535495990	chr9:104164033-104164034	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs55769213	chr9:104164049-104164050	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs2777335	chr9:104164068-104164069	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs560281871	chr9:104164072-104164073	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs368940924	chr9:104164138-104164139	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs182054050	chr9:104164142-104164143	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs187050123	chr9:104164145-104164146	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs537935387	chr9:104164158-104164159	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs2777336	chr9:104164162-104164163	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191543009	chr9:104164183-104164184	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs112917056	chr9:104164202-104164203	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs374789136	chr9:104164203-104164204	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104162000-104164200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:104162000-104164600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:104162000-104169600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:104162200-104165200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
5	chr9:104162400-104164200	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
6	chr9:104162400-104164800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:104162400-104165000	Transcr. at gene 5' and 3'	HepG2	liver
8	chr9:104162400-104165200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
9	chr9:104162400-104165400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr9:104162400-104166000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:104162400-104167400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr9:104162600-104164000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr9:104162600-104164000	Weak transcription	Aorta	Aorta
14	chr9:104162600-104164200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:104162600-104164600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:104162600-104165400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr9:104162600-104166200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr9:104162600-104166200	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
19	chr9:104162600-104170400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:104162600-104170400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:104162600-104171600	Strong transcription	Placenta	Placenta
22	chr9:104162600-104172000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr9:104162800-104164000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr9:104162800-104164000	Weak transcription	Lung	lung
25	chr9:104162800-104164200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:104162800-104164200	Genic enhancers	Liver	Liver
27	chr9:104162800-104164600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:104162800-104164600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:104162800-104164600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr9:104162800-104165000	Weak transcription	Colonic Mucosa	Colon
31	chr9:104162800-104165400	Weak transcription	Gastric	stomach
32	chr9:104162800-104165400	Strong transcription	HSMM	muscle
33	chr9:104162800-104165400	Strong transcription	NHDF-Ad	bronchial
34	chr9:104162800-104165800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
35	chr9:104162800-104167000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr9:104162800-104167000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr9:104162800-104167400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:104162800-104168000	Weak transcription	Esophagus	oesophagus
39	chr9:104162800-104169000	Strong transcription	HSMMtube	muscle
40	chr9:104162800-104169200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr9:104162800-104169400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr9:104162800-104169600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr9:104162800-104170000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr9:104162800-104170000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:104162800-104172200	ZNF genes & repeats	A549	lung
46	chr9:104162800-104173800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr9:104163000-104164000	Genic enhancers	Fetal Brain Male	brain
48	chr9:104163000-104164200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr9:104163000-104164200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr9:104163000-104164200	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links