Variant report

Variant	esv1793812
Chromosome Location	chr7:86765464-86771666
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86746755..86750570-chr7:86763189..86766191,3	K562	blood:
2	chr7:86743955..86746564-chr7:86769711..86772412,2	K562	blood:
3	chr7:86687904..86689831-chr7:86767827..86771326,5	K562	blood:
4	chr7:86623122..86625036-chr7:86768890..86770783,2	K562	blood:
5	chr7:86763545..86768388-chr7:86768445..86771440,6	K562	blood:
6	chr7:86653737..86655666-chr7:86769659..86772034,2	K562	blood:
7	chr7:86763222..86765945-chr7:86765955..86768293,2	K562	blood:
8	chr7:86687784..86690373-chr7:86765131..86767010,2	K562	blood:
9	chr7:86758328..86759848-chr7:86769436..86771788,2	K562	blood:
10	chr7:86731060..86733031-chr7:86768713..86771347,2	K562	blood:
11	chr7:86555365..86557020-chr7:86764559..86766701,2	K562	blood:
12	chr7:86769920..86772245-chr7:86843522..86846267,2	K562	blood:
13	chr7:86756889..86761980-chr7:86767271..86772567,7	K562	blood:
14	chr7:86553017..86554703-chr7:86769615..86772464,2	K562	blood:
15	chr7:86688083..86692094-chr7:86768272..86771491,3	K562	blood:
16	chr7:86763545..86768388-chr7:86768445..86771440,6	K562	blood:
17	chr7:86688873..86691091-chr7:86764081..86766631,2	K562	blood:
18	chr7:86760460..86762904-chr7:86763165..86765693,2	MCF-7	breast:
19	chr7:86763222..86765945-chr7:86765955..86768293,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135185	chromatin interactions
ENSG00000164659	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548080713	chr7:86765465-86765466	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs184300764	chr7:86765529-86765530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs559219873	chr7:86765560-86765561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150990600	chr7:86765561-86765562	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566488315	chr7:86765576-86765577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569641157	chr7:86765621-86765622	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs146243038	chr7:86765625-86765626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs11971310	chr7:86765642-86765643	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs113549131	chr7:86765648-86765649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138887270	chr7:86765651-86765652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188599066	chr7:86765697-86765698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141129537	chr7:86765725-86765726	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34952620	chr7:86765744-86765745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539115956	chr7:86765757-86765758	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11978231	chr7:86765760-86765761	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs10952896	chr7:86765763-86765764	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537536937	chr7:86765812-86765813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542584285	chr7:86765833-86765834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561666210	chr7:86765895-86765896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs181013039	chr7:86765922-86765923	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75635959	chr7:86765923-86765924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559497894	chr7:86765980-86765981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532940937	chr7:86765981-86765982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373443288	chr7:86766010-86766011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs72587256	chr7:86766020-86766021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185985359	chr7:86766065-86766066	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150288245	chr7:86766077-86766078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530533441	chr7:86766117-86766118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548984450	chr7:86766137-86766138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs548001402	chr7:86766148-86766149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs555977312	chr7:86766151-86766152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535331756	chr7:86766213-86766214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190836587	chr7:86766242-86766243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571821885	chr7:86766278-86766279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs538811431	chr7:86766304-86766305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs570610835	chr7:86766345-86766346	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs115093809	chr7:86766382-86766383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs575300894	chr7:86766389-86766390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs114569468	chr7:86766395-86766396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554523422	chr7:86766477-86766478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182198868	chr7:86766541-86766542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187242126	chr7:86766554-86766555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs572601424	chr7:86766572-86766573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559335839	chr7:86766737-86766738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs386715496	chr7:86766742-86766743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs73204813	chr7:86766743-86766744	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs137889091	chr7:86766790-86766791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530599716	chr7:86766794-86766795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs190634189	chr7:86766801-86766802	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149491631	chr7:86766810-86766811	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86763400-86766800	Weak transcription	K562	blood
2	chr7:86763800-86768800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:86766800-86767000	ZNF genes & repeats	K562	blood
4	chr7:86767000-86768200	Weak transcription	K562	blood
5	chr7:86768200-86768800	Enhancers	K562	blood
6	chr7:86768800-86770200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:86768800-86770200	Flanking Active TSS	K562	blood
8	chr7:86768800-86771000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:86769000-86770000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:86769000-86770200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:86769000-86770200	Enhancers	Hela-S3	cervix
12	chr7:86769000-86770400	Enhancers	Fetal Intestine Small	intestine
13	chr7:86769000-86770600	Enhancers	HepG2	liver
14	chr7:86769000-86771000	Enhancers	Fetal Intestine Large	intestine
15	chr7:86769400-86770200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:86769600-86770000	Enhancers	Primary hematopoietic stem cells	blood
17	chr7:86769800-86770600	Enhancers	Stomach Mucosa	stomach
18	chr7:86769800-86771400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:86770000-86773200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:86770200-86773400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:86770200-86773400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:86770200-86774000	Enhancers	K562	blood
23	chr7:86770400-86770800	Weak transcription	Fetal Intestine Small	intestine
24	chr7:86770600-86771000	Enhancers	GM12878-XiMat	blood
25	chr7:86770800-86771000	Enhancers	Fetal Intestine Small	intestine
26	chr7:86771000-86772600	Weak transcription	GM12878-XiMat	blood
27	chr7:86771000-86773200	Weak transcription	Fetal Intestine Small	intestine
28	chr7:86771000-86780800	Weak transcription	Fetal Intestine Large	intestine
29	chr7:86771400-86780400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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