Variant report

Variant	esv3475734
Chromosome Location	chr7:16348821-16402329
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16358608..16360256-chr7:16374793..16376621,2	K562	blood:
2	chr7:16394955..16400745-chr7:16401367..16408404,9	K562	blood:
3	chr7:16335409..16337001-chr7:16354047..16355950,2	K562	blood:
4	chr7:16382268..16383861-chr7:16437645..16440357,2	K562	blood:
5	chr7:16348686..16351561-chr7:16354430..16357375,3	K562	blood:
6	chr7:16375946..16378002-chr7:16389862..16391543,2	MCF-7	breast:
7	chr7:16343653..16345575-chr7:16349935..16352190,3	K562	blood:
8	chr7:16381261..16383873-chr7:16387372..16389637,2	K562	blood:
9	chr7:16355408..16358313-chr7:16359954..16363461,3	K562	blood:
10	chr7:16397851..16402172-chr7:16402336..16405323,3	K562	blood:
11	chr7:16371339..16372978-chr7:16382400..16384507,2	K562	blood:
12	chr7:16361901..16363592-chr7:16364009..16366007,2	K562	blood:
13	chr7:16355252..16356944-chr7:16359954..16363461,3	K562	blood:
14	chr7:16361901..16363592-chr7:16364009..16366007,2	K562	blood:
15	chr7:16361874..16363592-chr7:16364507..16366476,2	K562	blood:
16	chr7:16355408..16358313-chr7:16359954..16363461,3	K562	blood:
17	chr7:16347978..16350861-chr7:16364873..16367398,2	K562	blood:
18	chr7:16333849..16337358-chr7:16346440..16349011,3	K562	blood:
19	chr7:16374992..16378303-chr7:16378786..16381334,3	K562	blood:
20	chr7:16402008..16404238-chr7:16406373..16408242,2	K562	blood:
21	chr7:16402270..16404238-chr7:16406373..16408999,2	K562	blood:
22	chr7:16355252..16356944-chr7:16359954..16363461,3	K562	blood:
23	chr7:16348138..16350804-chr7:16362128..16364167,2	K562	blood:
24	chr7:16349823..16352454-chr7:16353444..16355930,3	K562	blood:
25	chr7:16375946..16378002-chr7:16389862..16391543,2	MCF-7	breast:
26	chr7:16371339..16372978-chr7:16382400..16384507,2	K562	blood:
27	chr7:16348686..16351561-chr7:16354430..16357375,3	K562	blood:
28	chr7:16361874..16363592-chr7:16364507..16366476,2	K562	blood:
29	chr7:16364478..16366414-chr7:16372381..16373982,2	K562	blood:
30	chr7:16347978..16350861-chr7:16364873..16367398,2	K562	blood:
31	chr7:16394955..16400745-chr7:16401367..16408404,9	K562	blood:
32	chr7:16348138..16350804-chr7:16362128..16364167,2	K562	blood:
33	chr7:16381261..16383873-chr7:16387372..16389637,2	K562	blood:
34	chr7:16374992..16378303-chr7:16378786..16381334,3	K562	blood:
35	chr7:16364478..16366414-chr7:16372381..16373982,2	K562	blood:
36	chr7:16358608..16360256-chr7:16374793..16376621,2	K562	blood:
37	chr7:16346273..16347971-chr7:16353272..16356192,2	K562	blood:
38	chr7:16349823..16352454-chr7:16353444..16355930,3	K562	blood:

No data

Extended variants
information (count: 2270 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2270 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17169417	chr7:16348830-16348831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111759965	chr7:16348889-16348890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138148434	chr7:16348941-16348942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1990017	chr7:16348944-16348945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs74802732	chr7:16348950-16348951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368634851	chr7:16349031-16349032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76372488	chr7:16349056-16349057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547268871	chr7:16349080-16349081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142629253	chr7:16349098-16349099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13225705	chr7:16349106-16349107	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs146061731	chr7:16349131-16349132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569768306	chr7:16349160-16349161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1990016	chr7:16349164-16349165	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112218480	chr7:16349201-16349202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570807779	chr7:16349244-16349245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535033931	chr7:16349245-16349246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79572228	chr7:16349256-16349257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568681359	chr7:16349280-16349281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141492718	chr7:16349379-16349380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557589173	chr7:16349419-16349420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74887914	chr7:16349465-16349466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543489798	chr7:16349510-16349511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369293539	chr7:16349533-16349534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374138851	chr7:16349541-16349542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576743998	chr7:16349559-16349560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188716526	chr7:16349609-16349610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111346565	chr7:16349623-16349624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529842390	chr7:16349624-16349625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77048960	chr7:16349642-16349643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563486309	chr7:16349643-16349644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530940583	chr7:16349677-16349678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113444683	chr7:16349732-16349733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559293512	chr7:16349746-16349747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6976273	chr7:16349755-16349756	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs528456653	chr7:16349758-16349759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35243813	chr7:16349778-16349779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111318446	chr7:16349785-16349786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568819859	chr7:16349804-16349805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536147556	chr7:16349814-16349815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557622237	chr7:16349828-16349829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545443045	chr7:16349838-16349839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6958419	chr7:16349864-16349865	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs558586644	chr7:16349868-16349869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113374161	chr7:16349884-16349885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193048828	chr7:16349888-16349889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34195692	chr7:16349898-16349899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11355036	chr7:16349899-16349900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552546309	chr7:16349902-16349903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117312766	chr7:16349931-16349932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185802853	chr7:16349953-16349954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16333400-16349000	Weak transcription	Psoas Muscle	Psoas
2	chr7:16347600-16356200	Weak transcription	K562	blood
3	chr7:16349000-16349600	Enhancers	Fetal Heart	heart
4	chr7:16349000-16350000	Enhancers	Psoas Muscle	Psoas
5	chr7:16349200-16349600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr7:16354600-16355400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:16354600-16355400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:16354800-16355200	Active TSS	NHDF-Ad	bronchial
9	chr7:16354800-16355400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:16354800-16355400	Active TSS	Aorta	Aorta
11	chr7:16354800-16355400	Active TSS	A549	lung
12	chr7:16355000-16355800	Enhancers	Stomach Mucosa	stomach
13	chr7:16355400-16355600	Enhancers	A549	lung
14	chr7:16355600-16356000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:16355600-16358400	Weak transcription	A549	lung
16	chr7:16355800-16357800	Weak transcription	Stomach Mucosa	stomach
17	chr7:16356200-16357200	Strong transcription	K562	blood
18	chr7:16356200-16357400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:16357000-16357200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:16357200-16360400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:16357200-16372600	Weak transcription	K562	blood
22	chr7:16357400-16358400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:16357800-16359800	Enhancers	Stomach Mucosa	stomach
24	chr7:16358200-16358600	Enhancers	Gastric	stomach
25	chr7:16358200-16359400	Enhancers	HMEC	breast
26	chr7:16358200-16359400	Enhancers	NHEK	skin
27	chr7:16358200-16359600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:16358200-16359600	Enhancers	HUVEC	blood vessel
29	chr7:16358200-16359600	Enhancers	Osteobl	bone
30	chr7:16358200-16359800	Enhancers	NH-A	brain
31	chr7:16358400-16359200	Enhancers	A549	lung
32	chr7:16358400-16359400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:16358400-16359400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:16358400-16359600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr7:16358400-16359600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:16358600-16359000	Weak transcription	Gastric	stomach
37	chr7:16358600-16359200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:16358800-16359200	Enhancers	HSMM	muscle
39	chr7:16358800-16359400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:16359000-16359400	Enhancers	NHLF	lung
41	chr7:16359000-16359600	Enhancers	Gastric	stomach
42	chr7:16359000-16359600	Enhancers	HSMMtube	muscle
43	chr7:16359200-16359600	Enhancers	Esophagus	oesophagus
44	chr7:16359600-16373600	Weak transcription	Gastric	stomach
45	chr7:16359800-16360400	Weak transcription	Stomach Mucosa	stomach
46	chr7:16360400-16360800	Enhancers	Stomach Mucosa	stomach
47	chr7:16362600-16363800	Enhancers	Fetal Heart	heart
48	chr7:16368800-16369200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:16370400-16373600	Weak transcription	Aorta	Aorta
50	chr7:16372600-16373600	ZNF genes & repeats	K562	blood

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