Variant report

Variant	esv275249
Chromosome Location	chr7:150058251-150060163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:150020496..150023930-chr7:150059013..150060732,3	MCF-7	breast:
2	chr7:150058189..150060647-chr7:150112613..150115187,2	MCF-7	breast:
3	chr7:150040205..150042908-chr7:150058651..150061334,2	MCF-7	breast:
4	chr7:150018681..150020697-chr7:150058439..150060132,2	MCF-7	breast:
5	chr7:150055052..150056576-chr7:150057801..150059416,2	K562	blood:
6	chr7:150014201..150017150-chr7:150057916..150059881,2	K562	blood:
7	chr7:150059620..150061191-chr7:150117387..150118935,2	K562	blood:
8	chr7:150041697..150043495-chr7:150057616..150059500,2	K562	blood:
9	chr7:150059551..150061730-chr7:150106999..150109857,2	MCF-7	breast:
10	chr7:150013529..150015903-chr7:150058495..150060887,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106526	chromatin interactions
ENSG00000127399	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373593614	chr7:150058271-150058272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369505997	chr7:150058307-150058308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376974188	chr7:150058313-150058314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372967186	chr7:150058316-150058317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559460907	chr7:150058317-150058318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528591135	chr7:150058321-150058322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574987478	chr7:150058330-150058331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540589007	chr7:150058339-150058340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542277999	chr7:150058341-150058342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71294485	chr7:150058342-150058343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375785700	chr7:150058371-150058372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182163464	chr7:150058412-150058413	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs372915391	chr7:150058514-150058515	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs61314827	chr7:150058548-150058549	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546158586	chr7:150058550-150058551	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs563228951	chr7:150058551-150058552	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs146927289	chr7:150058587-150058588	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs187179032	chr7:150058638-150058639	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs561406701	chr7:150058649-150058650	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs546961932	chr7:150058726-150058727	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs570093764	chr7:150058809-150058810	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs539457428	chr7:150058821-150058822	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs147913331	chr7:150058825-150058826	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs569983483	chr7:150058861-150058862	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs562577736	chr7:150058905-150058906	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs555606423	chr7:150058906-150058907	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568529566	chr7:150058913-150058914	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs192313310	chr7:150058915-150058916	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs111339396	chr7:150058931-150058932	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs554334331	chr7:150058940-150058941	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs13223702	chr7:150058968-150058969	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs546218273	chr7:150058984-150058985	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs577889146	chr7:150058989-150058990	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs112502331	chr7:150059002-150059003	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs372977863	chr7:150059051-150059052	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs567493124	chr7:150059052-150059053	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs113081598	chr7:150059087-150059088	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs561967689	chr7:150059126-150059127	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs537998096	chr7:150059164-150059165	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs34311995	chr7:150059255-150059256	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs571337749	chr7:150059283-150059284	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs540711145	chr7:150059308-150059309	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs564250689	chr7:150059313-150059314	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs149084168	chr7:150059325-150059326	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs549750740	chr7:150059330-150059331	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs79511562	chr7:150059394-150059395	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs398095469	chr7:150059399-150059400	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs17173681	chr7:150059414-150059415	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs375443969	chr7:150059450-150059451	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs62503761	chr7:150059469-150059470	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Congenital long qt syndrome	19214780	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150039200-150065000	Weak transcription	Right Atrium	heart
2	chr7:150052000-150061000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr7:150053000-150058400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:150053200-150065000	Enhancers	Fetal Thymus	thymus
5	chr7:150054800-150058600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:150055000-150058800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:150055200-150058400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:150055200-150058400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:150055200-150058600	Weak transcription	Placenta	Placenta
10	chr7:150055200-150059200	Weak transcription	Primary B cells from cord blood	blood
11	chr7:150055200-150059400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr7:150055200-150060200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr7:150055200-150060200	Weak transcription	HSMM	muscle
14	chr7:150055200-150060600	Weak transcription	Adipose Nuclei	Adipose
15	chr7:150055200-150060600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr7:150055200-150061000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:150055200-150063000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:150055200-150064800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:150055200-150065000	Weak transcription	Spleen	Spleen
20	chr7:150055400-150058400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:150055400-150058400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:150055400-150058600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:150055400-150058600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:150055400-150058600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:150055400-150060600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:150055600-150058600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:150056400-150058600	Weak transcription	HepG2	liver
28	chr7:150056400-150060600	Weak transcription	Primary T cells from cord blood	blood
29	chr7:150056400-150060800	Weak transcription	Fetal Intestine Large	intestine
30	chr7:150056400-150061000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr7:150056400-150064800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:150056400-150064800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:150056600-150058400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:150056600-150058800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:150056600-150060600	Weak transcription	GM12878-XiMat	blood
36	chr7:150056600-150061000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr7:150056800-150058600	Weak transcription	Fetal Intestine Small	intestine
38	chr7:150056800-150060600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr7:150056800-150060600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:150056800-150060800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr7:150057200-150058400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:150057200-150058400	Weak transcription	Brain Germinal Matrix	brain
43	chr7:150057200-150058600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:150057200-150060800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr7:150057200-150061000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:150057400-150058600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:150057400-150058800	Weak transcription	Fetal Kidney	kidney
48	chr7:150057400-150060800	Weak transcription	HSMMtube	muscle
49	chr7:150057600-150058400	Enhancers	Dnd41	blood
50	chr7:150057800-150059000	Weak transcription	Thymus	Thymus

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