Variant report

Variant	esv1095310
Chromosome Location	chr9:140459781-140462021
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	chr9:140460206-140460396	GM12878	blood:	n/a	n/a
2	POLR2A	chr9:140459573-140459842	GM12891	blood:	n/a	n/a
3	POLR2A	chr9:140459510-140459929	GM12891	blood:	n/a	n/a
4	POLR2A	chr9:140459571-140459885	GM12892	blood:	n/a	n/a
5	POLR2A	chr9:140460266-140460502	GM12878	blood:	n/a	n/a
6	POLR2A	chr9:140460210-140460447	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr9:140459534-140459848	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:140457953..140460745-chr9:140471921..140474546,2	K562	blood:

Variant related genes	Relation type
DPH7	TF binding region
ENSG00000148399	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71499178	chr9:140459782-140459783	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201565155	chr9:140459788-140459789	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs56072414	chr9:140459790-140459791	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs12005906	chr9:140459792-140459793	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs35044850	chr9:140459810-140459811	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs199501063	chr9:140459813-140459814	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs200538252	chr9:140459817-140459818	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs113640885	chr9:140459824-140459825	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs71510830	chr9:140459840-140459841	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs9410100	chr9:140459843-140459844	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375635752	chr9:140459870-140459871	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs140876555	chr9:140459873-140459874	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs201150052	chr9:140459878-140459879	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs58224794	chr9:140459879-140459880	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs9410031	chr9:140459884-140459885	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs74211908	chr9:140459900-140459901	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs199791991	chr9:140459906-140459907	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs377531765	chr9:140459907-140459908	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs577946498	chr9:140459908-140459909	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs200697038	chr9:140459934-140459935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551032610	chr9:140459956-140459957	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs369751631	chr9:140459963-140459964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373267650	chr9:140459993-140459994	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2987616	chr9:140460016-140460017	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542407593	chr9:140460025-140460026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs111790963	chr9:140460030-140460031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2995671	chr9:140460046-140460047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs59229002	chr9:140460060-140460061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs572031465	chr9:140460076-140460077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs57471385	chr9:140460090-140460091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs9410103	chr9:140460139-140460140	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9410024	chr9:140460196-140460197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs60946926	chr9:140460226-140460227	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs58286859	chr9:140460314-140460315	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs201862782	chr9:140460320-140460321	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs562396856	chr9:140460342-140460343	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs9410026	chr9:140460372-140460373	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs76930061	chr9:140460402-140460403	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs199927901	chr9:140460411-140460412	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs11794926	chr9:140460502-140460503	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs75760804	chr9:140460518-140460519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200890354	chr9:140460524-140460525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs28429869	chr9:140460546-140460547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201845733	chr9:140460553-140460554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs9410028	chr9:140460694-140460695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs56385533	chr9:140460784-140460785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9410029	chr9:140460824-140460825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200125165	chr9:140460846-140460847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76029303	chr9:140460868-140460869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200930234	chr9:140460907-140460908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:20)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140446800-140459800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:140447000-140464200	Weak transcription	Fetal Kidney	kidney
3	chr9:140447200-140466400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr9:140447200-140470200	Weak transcription	Stomach Mucosa	stomach
5	chr9:140447200-140471800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:140447400-140459800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:140447400-140466400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr9:140447400-140466800	Weak transcription	Psoas Muscle	Psoas
9	chr9:140447400-140469400	Weak transcription	Right Atrium	heart
10	chr9:140447400-140471800	Weak transcription	Small Intestine	intestine
11	chr9:140447600-140459800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:140447600-140459800	Strong transcription	Fetal Stomach	stomach
13	chr9:140448800-140459800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:140451000-140459800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr9:140451200-140459800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:140451200-140466800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr9:140451400-140459800	Strong transcription	Fetal Muscle Leg	muscle
18	chr9:140451400-140465000	Weak transcription	HSMM	muscle
19	chr9:140453000-140471400	Weak transcription	Fetal Brain Male	brain
20	chr9:140454200-140459800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:140454200-140459800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr9:140455200-140466400	Weak transcription	HUVEC	blood vessel
23	chr9:140455600-140459800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr9:140455800-140459800	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr9:140456000-140459800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:140456000-140459800	Strong transcription	Placenta	Placenta
27	chr9:140456400-140459800	Strong transcription	Osteobl	bone
28	chr9:140456600-140459800	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr9:140456600-140459800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:140456600-140459800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:140456600-140459800	Strong transcription	Brain Germinal Matrix	brain
32	chr9:140457000-140459800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:140457200-140459800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr9:140457400-140459800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:140458000-140459800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:140458400-140459800	ZNF genes & repeats	Spleen	Spleen
37	chr9:140458600-140466400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr9:140458600-140466600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr9:140458800-140465000	Weak transcription	K562	blood
40	chr9:140459000-140466400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr9:140459000-140466400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr9:140459000-140466600	Weak transcription	NHDF-Ad	bronchial
43	chr9:140459200-140459800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
44	chr9:140459200-140464400	Weak transcription	Fetal Lung	lung
45	chr9:140459200-140464600	Weak transcription	Hela-S3	cervix
46	chr9:140459200-140466400	Weak transcription	NH-A	brain
47	chr9:140459200-140466600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:140459200-140466600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr9:140459200-140466600	Weak transcription	HSMMtube	muscle
50	chr9:140459200-140466800	Weak transcription	Primary B cells from cord blood	blood

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