Variant report

Variant	esv2757215
Chromosome Location	chr7:16346139-16458474
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:100)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:100 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:16347978..16350861-chr7:16364873..16367398,2	K562	blood:
2	chr7:16435726..16438390-chr7:16620305..16622722,2	K562	blood:
3	chr7:16355408..16358313-chr7:16359954..16363461,3	K562	blood:
4	chr7:16343653..16345575-chr7:16349935..16352190,3	K562	blood:
5	chr7:16431022..16434211-chr7:16436122..16439402,3	K562	blood:
6	chr7:16447322..16450777-chr7:16450983..16453871,4	K562	blood:
7	chr7:16424852..16427430-chr7:16453245..16455678,2	K562	blood:
8	chr7:16347978..16350861-chr7:16364873..16367398,2	K562	blood:
9	chr7:16355408..16358313-chr7:16359954..16363461,3	K562	blood:
10	chr7:16404045..16407640-chr7:16460095..16463015,3	MCF-7	breast:
11	chr7:16348686..16351561-chr7:16354430..16357375,3	K562	blood:
12	chr7:16397851..16402172-chr7:16402336..16405323,3	K562	blood:
13	chr7:16430248..16433925-chr7:16458867..16461706,3	MCF-7	breast:
14	chr7:16429864..16431992-chr7:16432066..16434396,2	K562	blood:
15	chr7:16438588..16440667-chr7:16440672..16442750,2	K562	blood:
16	chr7:16431599..16434211-chr7:16436454..16438200,2	K562	blood:
17	chr7:16443928..16446056-chr7:16453024..16455999,2	K562	blood:
18	chr7:16448885..16451156-chr7:16453310..16455004,2	MCF-7	breast:
19	chr7:16404670..16406505-chr7:16408648..16410407,2	MCF-7	breast:
20	chr7:16402270..16404238-chr7:16406373..16408999,2	K562	blood:
21	chr7:16406024..16408482-chr7:16460009..16462034,2	K562	blood:
22	chr7:16361874..16363592-chr7:16364507..16366476,2	K562	blood:
23	chr7:16456961..16459582-chr7:16459937..16461767,2	MCF-7	breast:
24	chr7:16441360..16443090-chr7:16448119..16450606,2	K562	blood:
25	chr7:16375946..16378002-chr7:16389862..16391543,2	MCF-7	breast:
26	chr7:16304631..16307990-chr7:16437547..16440554,3	K562	blood:
27	chr7:16451524..16456332-chr7:16459501..16462581,7	MCF-7	breast:
28	chr7:16302626..16306339-chr7:16456665..16460333,5	K562	blood:
29	chr7:16381261..16383873-chr7:16387372..16389637,2	K562	blood:
30	chr7:16448885..16451156-chr7:16453310..16455004,2	MCF-7	breast:
31	chr7:16364478..16366414-chr7:16372381..16373982,2	K562	blood:
32	chr7:16423939..16426216-chr7:16434967..16437061,2	K562	blood:
33	chr7:16397851..16402172-chr7:16402336..16405323,3	K562	blood:
34	chr7:16382268..16383861-chr7:16437645..16440357,2	K562	blood:
35	chr7:16436062..16438376-chr7:16440811..16443657,2	K562	blood:
36	chr7:16375946..16378002-chr7:16389862..16391543,2	MCF-7	breast:
37	chr7:16349823..16352454-chr7:16353444..16355930,3	K562	blood:
38	chr7:16402270..16404238-chr7:16406373..16408999,2	K562	blood:
39	chr7:16394955..16400745-chr7:16401367..16408404,9	K562	blood:
40	chr7:16361874..16363592-chr7:16364507..16366476,2	K562	blood:
41	chr7:16446305..16449837-chr7:16459881..16462752,5	MCF-7	breast:
42	chr7:16348686..16351561-chr7:16354430..16357375,3	K562	blood:
43	chr7:16429864..16431992-chr7:16432066..16434396,2	K562	blood:
44	chr7:16439058..16440964-chr7:16460442..16462203,2	MCF-7	breast:
45	chr7:16349823..16352454-chr7:16353444..16355930,3	K562	blood:
46	chr7:16427338..16429420-chr7:16432571..16434518,2	K562	blood:
47	chr7:16348138..16350804-chr7:16362128..16364167,2	K562	blood:
48	chr7:16437189..16440785-chr7:16463112..16464821,3	MCF-7	breast:
49	chr7:16444286..16446056-chr7:16454023..16455999,2	K562	blood:
50	chr7:16406566..16408387-chr7:16416040..16418438,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136261	chromatin interactions
ENSG00000214960	chromatin interactions
ENSG00000229688	chromatin interactions
ENSG00000106524	chromatin interactions

Extended variants
information (count: 5074 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:5074 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17460723	chr7:16346139-16346140	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148559005	chr7:16346156-16346157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567507488	chr7:16346176-16346177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76278302	chr7:16346177-16346178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550235669	chr7:16346186-16346187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568775814	chr7:16346191-16346192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6975353	chr7:16346213-16346214	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185617227	chr7:16346226-16346227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58011154	chr7:16346245-16346246	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs116490194	chr7:16346283-16346284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555632905	chr7:16346300-16346301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573857700	chr7:16346376-16346377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116110308	chr7:16346411-16346412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577965078	chr7:16346437-16346438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368048756	chr7:16346531-16346532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545338499	chr7:16346532-16346533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139542538	chr7:16346566-16346567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560280838	chr7:16346628-16346629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528024881	chr7:16346650-16346651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190474886	chr7:16346694-16346695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6959673	chr7:16346706-16346707	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs531758294	chr7:16346717-16346718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6960182	chr7:16346736-16346737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568889565	chr7:16346779-16346780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539157238	chr7:16346797-16346798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551395250	chr7:16346844-16346845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566327097	chr7:16346851-16346852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181709909	chr7:16346875-16346876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530718472	chr7:16346878-16346879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527523260	chr7:16346882-16346883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147740974	chr7:16346883-16346884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570682615	chr7:16346899-16346900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569756253	chr7:16346901-16346902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537995873	chr7:16346920-16346921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556383070	chr7:16346923-16346924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186984332	chr7:16346943-16346944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545157949	chr7:16346944-16346945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141154376	chr7:16346945-16346946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111680672	chr7:16346971-16346972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542931870	chr7:16346987-16346988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146935327	chr7:16347085-16347086	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531792435	chr7:16347101-16347102	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191826650	chr7:16347107-16347108	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184116275	chr7:16347136-16347137	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552117966	chr7:16347171-16347172	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375437470	chr7:16347191-16347192	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569630486	chr7:16347208-16347209	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551166879	chr7:16347219-16347220	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13245330	chr7:16347234-16347235	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13245331	chr7:16347235-16347236	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16313600-16348200	Weak transcription	Gastric	stomach
2	chr7:16333400-16349000	Weak transcription	Psoas Muscle	Psoas
3	chr7:16343800-16347600	Strong transcription	K562	blood
4	chr7:16347000-16347800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:16347600-16356200	Weak transcription	K562	blood
6	chr7:16349000-16349600	Enhancers	Fetal Heart	heart
7	chr7:16349000-16350000	Enhancers	Psoas Muscle	Psoas
8	chr7:16349200-16349600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr7:16354600-16355400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:16354600-16355400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:16354800-16355200	Active TSS	NHDF-Ad	bronchial
12	chr7:16354800-16355400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:16354800-16355400	Active TSS	Aorta	Aorta
14	chr7:16354800-16355400	Active TSS	A549	lung
15	chr7:16355000-16355800	Enhancers	Stomach Mucosa	stomach
16	chr7:16355400-16355600	Enhancers	A549	lung
17	chr7:16355600-16356000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:16355600-16358400	Weak transcription	A549	lung
19	chr7:16355800-16357800	Weak transcription	Stomach Mucosa	stomach
20	chr7:16356200-16357200	Strong transcription	K562	blood
21	chr7:16356200-16357400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:16357000-16357200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:16357200-16360400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:16357200-16372600	Weak transcription	K562	blood
25	chr7:16357400-16358400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:16357800-16359800	Enhancers	Stomach Mucosa	stomach
27	chr7:16358200-16358600	Enhancers	Gastric	stomach
28	chr7:16358200-16359400	Enhancers	HMEC	breast
29	chr7:16358200-16359400	Enhancers	NHEK	skin
30	chr7:16358200-16359600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:16358200-16359600	Enhancers	HUVEC	blood vessel
32	chr7:16358200-16359600	Enhancers	Osteobl	bone
33	chr7:16358200-16359800	Enhancers	NH-A	brain
34	chr7:16358400-16359200	Enhancers	A549	lung
35	chr7:16358400-16359400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:16358400-16359400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:16358400-16359600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr7:16358400-16359600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:16358600-16359000	Weak transcription	Gastric	stomach
40	chr7:16358600-16359200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:16358800-16359200	Enhancers	HSMM	muscle
42	chr7:16358800-16359400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:16359000-16359400	Enhancers	NHLF	lung
44	chr7:16359000-16359600	Enhancers	Gastric	stomach
45	chr7:16359000-16359600	Enhancers	HSMMtube	muscle
46	chr7:16359200-16359600	Enhancers	Esophagus	oesophagus
47	chr7:16359600-16373600	Weak transcription	Gastric	stomach
48	chr7:16359800-16360400	Weak transcription	Stomach Mucosa	stomach
49	chr7:16360400-16360800	Enhancers	Stomach Mucosa	stomach
50	chr7:16362600-16363800	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links