Variant report

Variant	nsv1028556
Chromosome Location	chr7:16404615-16440024
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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16436062..16438376-chr7:16440811..16443657,2	K562	blood:
2	chr7:16431022..16434211-chr7:16436122..16439402,3	K562	blood:
3	chr7:16427338..16429420-chr7:16432571..16434518,2	K562	blood:
4	chr7:16404670..16406505-chr7:16408648..16410407,2	MCF-7	breast:
5	chr7:16423939..16426216-chr7:16434967..16437061,2	K562	blood:
6	chr7:16427338..16429420-chr7:16432571..16434518,2	K562	blood:
7	chr7:16437189..16440785-chr7:16463112..16464821,3	MCF-7	breast:
8	chr7:16438588..16440667-chr7:16440672..16442750,2	K562	blood:
9	chr7:16433382..16436329-chr7:16629318..16633087,3	K562	blood:
10	chr7:16394955..16400745-chr7:16401367..16408404,9	K562	blood:
11	chr7:16427726..16430162-chr7:16435410..16438091,2	MCF-7	breast:
12	chr7:16406024..16408482-chr7:16460009..16462034,2	K562	blood:
13	chr7:16431022..16434211-chr7:16436122..16439402,3	K562	blood:
14	chr7:16435726..16438390-chr7:16620305..16622722,2	K562	blood:
15	chr7:16304973..16307091-chr7:16435445..16437043,2	K562	blood:
16	chr7:16423814..16426314-chr7:16443888..16446431,2	K562	blood:
17	chr7:16406566..16408387-chr7:16416040..16418438,2	K562	blood:
18	chr7:16431599..16434211-chr7:16436454..16438200,2	K562	blood:
19	chr7:16423939..16426216-chr7:16434967..16437061,2	K562	blood:
20	chr7:16425641..16427376-chr7:16459978..16461776,2	MCF-7	breast:
21	chr7:16402008..16404238-chr7:16406373..16408242,2	K562	blood:
22	chr7:16430248..16433925-chr7:16458867..16461706,3	MCF-7	breast:
23	chr7:16430102..16432686-chr7:16459442..16462077,2	MCF-7	breast:
24	chr7:16406566..16408387-chr7:16416040..16418438,2	K562	blood:
25	chr7:16382268..16383861-chr7:16437645..16440357,2	K562	blood:
26	chr7:16397851..16402172-chr7:16402336..16405323,3	K562	blood:
27	chr7:16404045..16407640-chr7:16460095..16463015,3	MCF-7	breast:
28	chr7:16439058..16440964-chr7:16460442..16462203,2	MCF-7	breast:
29	chr7:16427726..16430162-chr7:16435410..16438091,2	MCF-7	breast:
30	chr7:16429864..16431992-chr7:16432066..16434396,2	K562	blood:
31	chr7:16429864..16431992-chr7:16432066..16434396,2	K562	blood:
32	chr7:16402270..16404238-chr7:16406373..16408999,2	K562	blood:
33	chr7:16413371..16417158-chr7:16459644..16462038,3	MCF-7	breast:
34	chr7:16431599..16434211-chr7:16436454..16438200,2	K562	blood:
35	chr7:16404670..16406505-chr7:16408648..16410407,2	MCF-7	breast:
36	chr7:16424852..16427430-chr7:16453245..16455678,2	K562	blood:
37	chr7:16304631..16307990-chr7:16437547..16440554,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214960	chromatin interactions

Extended variants
information (count: 1826 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1826 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4721494	chr7:16404615-16404616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs207467696	chr7:16404655-16404656	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs578057662	chr7:16404659-16404660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550291396	chr7:16404660-16404661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144830296	chr7:16404691-16404692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368518373	chr7:16404703-16404704	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532532968	chr7:16404704-16404705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75202935	chr7:16404755-16404756	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs148618339	chr7:16404774-16404775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs78693955	chr7:16404776-16404777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs199529294	chr7:16404797-16404798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548721706	chr7:16404801-16404802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs569905904	chr7:16404813-16404814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs34860189	chr7:16404817-16404818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537578140	chr7:16404897-16404898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542912493	chr7:16404907-16404908	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555825857	chr7:16404922-16404923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs141556985	chr7:16404925-16404926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553317608	chr7:16404959-16404960	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs538602633	chr7:16404960-16404961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181385154	chr7:16404966-16404967	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146173357	chr7:16404990-16404991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542550813	chr7:16405067-16405068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561111430	chr7:16405076-16405077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557427748	chr7:16405096-16405097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12667765	chr7:16405125-16405126	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543965255	chr7:16405140-16405141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185923203	chr7:16405142-16405143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532420796	chr7:16405165-16405166	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs547722235	chr7:16405208-16405209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542269195	chr7:16405254-16405255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs10280281	chr7:16405309-16405310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530464183	chr7:16405318-16405319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs548451611	chr7:16405379-16405380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561980553	chr7:16405431-16405432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569950915	chr7:16405438-16405439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs550294605	chr7:16405546-16405547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537214891	chr7:16405593-16405594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563815626	chr7:16405601-16405602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs144018307	chr7:16405633-16405634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs117824503	chr7:16405665-16405666	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541032855	chr7:16405719-16405720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10224948	chr7:16405768-16405769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs564029246	chr7:16405806-16405807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs77942993	chr7:16405819-16405820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112469261	chr7:16405831-16405832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549653772	chr7:16405856-16405857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs565540314	chr7:16405879-16405880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371398668	chr7:16405889-16405890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs117090064	chr7:16405923-16405924	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16386600-16409400	Weak transcription	Ovary	ovary
2	chr7:16396000-16416000	Weak transcription	HSMMtube	muscle
3	chr7:16397600-16409600	Weak transcription	Fetal Stomach	stomach
4	chr7:16398000-16409600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:16398000-16409800	Weak transcription	Esophagus	oesophagus
6	chr7:16398000-16415400	Weak transcription	Left Ventricle	heart
7	chr7:16398000-16417400	Weak transcription	Gastric	stomach
8	chr7:16402000-16409600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:16402200-16416000	Weak transcription	Liver	Liver
10	chr7:16403600-16415200	Weak transcription	Psoas Muscle	Psoas
11	chr7:16404600-16405000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:16404800-16405000	Enhancers	Right Ventricle	heart
13	chr7:16405000-16409400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:16405000-16417400	Weak transcription	Right Ventricle	heart
15	chr7:16405600-16406000	Enhancers	K562	blood
16	chr7:16406000-16413600	Weak transcription	K562	blood
17	chr7:16406200-16407800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:16406400-16407600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:16406600-16407000	Enhancers	Fetal Brain Male	brain
20	chr7:16407000-16414600	Weak transcription	Fetal Lung	lung
21	chr7:16407600-16409400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:16407800-16409400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:16408600-16409600	Enhancers	Stomach Mucosa	stomach
24	chr7:16409400-16409600	Strong transcription	Ovary	ovary
25	chr7:16409400-16410000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:16409400-16410000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr7:16409400-16410400	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr7:16409400-16410800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:16409400-16411000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:16409400-16412600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr7:16409600-16409800	Enhancers	Pancreas	Pancrea
32	chr7:16409600-16409800	Flanking Active TSS	Stomach Mucosa	stomach
33	chr7:16409600-16410000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:16409600-16410200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr7:16409600-16410600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:16409600-16410800	ZNF genes & repeats	Fetal Stomach	stomach
37	chr7:16409600-16410800	ZNF genes & repeats	Ovary	ovary
38	chr7:16409800-16410000	Active TSS	Stomach Mucosa	stomach
39	chr7:16409800-16410400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
40	chr7:16409800-16410600	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr7:16409800-16410600	ZNF genes & repeats	Esophagus	oesophagus
42	chr7:16409800-16410600	ZNF genes & repeats	Pancreas	Pancrea
43	chr7:16409800-16410800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:16409800-16410800	ZNF genes & repeats	Aorta	Aorta
45	chr7:16410000-16414200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:16410000-16414400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:16410200-16410600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
48	chr7:16410200-16410800	ZNF genes & repeats	Lung	lung
49	chr7:16410400-16410800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr7:16410400-16411000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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