Variant report

Variant	esv3495097
Chromosome Location	chr7:98022232-98022583
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:98013767..98016196-chr7:98019830..98022730,2	K562	blood:

Variant related genes	Relation type
ENSG00000214389	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 87 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10228934	chr7:98022262-98022263	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs199576175	chr7:98022263-98022264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs398086003	chr7:98022264-98022265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201126307	chr7:98022279-98022280	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540097214	chr7:98022300-98022301	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs67496458	chr7:98022332-98022333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142686293	chr7:98022334-98022335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189956129	chr7:98022342-98022343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10228860	chr7:98022350-98022351	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562352208	chr7:98022356-98022357	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529456989	chr7:98022358-98022359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144248203	chr7:98022364-98022365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373757399	chr7:98022365-98022366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544901488	chr7:98022383-98022384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs59854442	chr7:98022388-98022389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369866566	chr7:98022390-98022391	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200044762	chr7:98022395-98022396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552168637	chr7:98022396-98022397	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149933692	chr7:98022409-98022410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369091360	chr7:98022410-98022411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528241318	chr7:98022411-98022412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546368623	chr7:98022414-98022415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs568254343	chr7:98022423-98022424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143991485	chr7:98022428-98022429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs201190021	chr7:98022429-98022430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113285584	chr7:98022430-98022431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs202175511	chr7:98022435-98022436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557241983	chr7:98022438-98022439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568774343	chr7:98022441-98022442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs199874022	chr7:98022443-98022444	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200998991	chr7:98022444-98022445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs367551304	chr7:98022449-98022450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112077738	chr7:98022467-98022468	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs572901812	chr7:98022471-98022472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs146660207	chr7:98022474-98022475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs534345135	chr7:98022476-98022477	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201827476	chr7:98022477-98022478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs200217796	chr7:98022479-98022480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs375107527	chr7:98022487-98022488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551155193	chr7:98022488-98022489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs398111637	chr7:98022489-98022490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs13309978	chr7:98022490-98022491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs139027432	chr7:98022503-98022504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183250154	chr7:98022504-98022505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs141337327	chr7:98022505-98022506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs138791419	chr7:98022508-98022509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs55939823	chr7:98022509-98022510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201892881	chr7:98022510-98022511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539337966	chr7:98022552-98022553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556466413	chr7:98022565-98022566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97990400-98028000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:97992000-98029400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:97995800-98028200	Weak transcription	Esophagus	oesophagus
4	chr7:98002600-98027600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:98003000-98023600	Weak transcription	Hela-S3	cervix
6	chr7:98007400-98028000	Weak transcription	Fetal Stomach	stomach
7	chr7:98013600-98023600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:98014200-98027200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:98014600-98027400	Weak transcription	Fetal Intestine Large	intestine
10	chr7:98016800-98024000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:98016800-98027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:98017600-98023600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:98017600-98027800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:98017800-98028000	Weak transcription	Pancreas	Pancrea
15	chr7:98018000-98023600	Weak transcription	A549	lung
16	chr7:98018000-98027600	Weak transcription	NHEK	skin
17	chr7:98018000-98028000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:98018200-98024200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:98018600-98023600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:98018600-98023800	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:98018600-98028000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:98018800-98028000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:98022000-98023600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:98022000-98023600	Weak transcription	Stomach Mucosa	stomach
25	chr7:98022000-98024000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:98022000-98027400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:98022000-98027400	Weak transcription	Fetal Intestine Small	intestine
28	chr7:98022000-98028000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:98022000-98029200	Weak transcription	Placenta	Placenta
30	chr7:98022200-98023000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:98022200-98027200	Weak transcription	HepG2	liver
32	chr7:98022200-98027600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:98022400-98022800	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links