Variant report

Variant	esv3443272
Chromosome Location	chr7:128039366-128041864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:128039318-128039426	LNCaP	prostate:	n/a	n/a
2	HEY1	chr7:128040757-128041210	K562	blood:	n/a	n/a
3	HEY1	chr7:128040037-128040571	K562	blood:	n/a	n/a
4	HEY1	chr7:128040958-128041257	K562	blood:	n/a	n/a
5	HEY1	chr7:128040321-128040662	K562	blood:	n/a	n/a
6	MYC	chr7:128040427-128040504	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:128040447-128042135	K562	blood:	n/a	n/a
8	POLR2A	chr7:128040043-128040575	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:128041710-128042284	K562	blood:	n/a	n/a
10	POLR2A	chr7:128039907-128040433	K562	blood:	n/a	n/a
11	POLR2A	chr7:128040507-128041115	K562	blood:	n/a	n/a
12	POLR2A	chr7:128040207-128040585	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:128040155-128040656	GM12892	blood:	n/a	n/a
14	POLR2A	chr7:128040131-128040721	GM12892	blood:	n/a	n/a
15	POLR2A	chr7:128040315-128040546	GM12891	blood:	n/a	n/a
16	POLR2A	chr7:128040156-128040935	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:128040244-128040646	GM12891	blood:	n/a	n/a
18	POLR2A	chr7:128040066-128040620	GM12892	blood:	n/a	n/a
19	POLR2A	chr7:128040178-128041119	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr7:128040344-128040553	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:128033560..128036202-chr7:128037168..128039895,3	MCF-7	breast:
2	chr7:128038192..128041556-chr7:128094283..128098008,3	MCF-7	breast:
3	chr7:128038860..128040622-chr7:128170673..128172607,2	MCF-7	breast:
4	chr7:127982483..127985267-chr7:128038524..128041227,3	K562	blood:
5	chr7:127982050..127985267-chr7:128038524..128041227,4	K562	blood:
6	chr7:128040454..128042949-chr7:128095892..128097636,2	MCF-7	breast:

No data

Variant related genes	Relation type
IMPDH1	TF binding region
ENSG00000273184	chromatin interactions
ENSG00000238750	chromatin interactions
ENSG00000240758	chromatin interactions
ENSG00000106348	chromatin interactions
ENSG00000106344	chromatin interactions
ENSG00000273270	chromatin interactions
ENSG00000135245	chromatin interactions
ENSG00000242588	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542386976	chr7:128039437-128039438	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs563660192	chr7:128039469-128039470	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs184270064	chr7:128039473-128039474	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs562967841	chr7:128039480-128039481	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs188608777	chr7:128039501-128039502	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs148097102	chr7:128039564-128039565	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs368763500	chr7:128039576-128039577	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs550621446	chr7:128039577-128039578	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs77653994	chr7:128039592-128039593	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs79647489	chr7:128039594-128039595	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs549782895	chr7:128039600-128039601	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs62481099	chr7:128039653-128039654	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181007456	chr7:128039690-128039691	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs540207720	chr7:128039697-128039698	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs183762331	chr7:128039698-128039699	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs535940596	chr7:128039703-128039704	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs144346035	chr7:128039798-128039799	Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs188137008	chr7:128039806-128039807	Strong transcription Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs35617452	chr7:128039817-128039818	Strong transcription Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs10954184	chr7:128039818-128039819	Strong transcription Weak transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs114056555	chr7:128039916-128039917	Strong transcription Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs573587605	chr7:128039918-128039919	Strong transcription Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs535009391	chr7:128039919-128039920	Strong transcription Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs367611186	chr7:128039921-128039922	Strong transcription Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs575123392	chr7:128039948-128039949	Strong transcription Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs542325600	chr7:128039992-128039993	Strong transcription Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs557516288	chr7:128040023-128040024	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs371828698	chr7:128040063-128040064	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs72624956	chr7:128040091-128040092	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs546146901	chr7:128040114-128040115	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs367797183	chr7:128040121-128040122	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs140982959	chr7:128040122-128040123	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs144929093	chr7:128040161-128040162	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs548481951	chr7:128040168-128040169	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs121912554	chr7:128040174-128040175	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs145014241	chr7:128040182-128040183	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs149093302	chr7:128040190-128040191	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs371548060	chr7:128040212-128040213	Strong transcription Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs182196127	chr7:128040229-128040230	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs529872889	chr7:128040270-128040271	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs377311622	chr7:128040282-128040283	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs201184147	chr7:128040285-128040286	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs369869768	chr7:128040338-128040339	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs144659635	chr7:128040404-128040405	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs372642229	chr7:128040429-128040430	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs201071873	chr7:128040436-128040437	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs140233296	chr7:128040445-128040446	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs202018162	chr7:128040450-128040451	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs145251520	chr7:128040478-128040479	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs373353058	chr7:128040498-128040499	Strong transcription Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128027800-128042800	Weak transcription	Fetal Brain Male	brain
3	chr7:128028000-128045200	Weak transcription	Small Intestine	intestine
4	chr7:128028400-128044600	Weak transcription	Fetal Heart	heart
5	chr7:128029600-128044400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:128030000-128043800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:128030200-128040000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:128031000-128043800	Strong transcription	Fetal Stomach	stomach
9	chr7:128031200-128043200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:128031200-128043200	Strong transcription	A549	lung
11	chr7:128031200-128043600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:128031200-128043600	Strong transcription	Lung	lung
13	chr7:128031200-128044200	Strong transcription	Spleen	Spleen
14	chr7:128031400-128041800	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr7:128031400-128043200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:128031400-128043200	Strong transcription	Gastric	stomach
17	chr7:128031400-128043600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:128031400-128044000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:128031400-128044200	Strong transcription	Fetal Muscle Leg	muscle
20	chr7:128031600-128040800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:128031600-128041400	Strong transcription	Stomach Smooth Muscle	stomach
22	chr7:128031600-128041600	Strong transcription	Brain Germinal Matrix	brain
23	chr7:128031600-128041800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:128031600-128042000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:128031600-128042000	Strong transcription	Right Ventricle	heart
26	chr7:128031600-128042200	Strong transcription	Fetal Brain Female	brain
27	chr7:128031600-128043200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:128031600-128043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:128031600-128043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:128031600-128043800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:128031600-128043800	Strong transcription	Adipose Nuclei	Adipose
32	chr7:128031600-128044400	Strong transcription	Fetal Intestine Small	intestine
33	chr7:128031800-128041600	Strong transcription	Ovary	ovary
34	chr7:128031800-128041800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr7:128031800-128041800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:128031800-128041800	Strong transcription	Placenta	Placenta
37	chr7:128031800-128042400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:128031800-128043000	Strong transcription	NHLF	lung
39	chr7:128031800-128043400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:128031800-128043400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:128031800-128043600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr7:128031800-128043600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr7:128031800-128043800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:128032000-128044000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr7:128032200-128043400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:128032400-128042000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:128032400-128043200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:128032400-128043600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:128032600-128042000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:128032800-128043000	Strong transcription	Primary B cells from peripheral blood	blood

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