Variant report

Variant	esv12328
Chromosome Location	chr7:120647816-120648879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120646710..120649505-chr7:120714634..120717834,3	K562	blood:
2	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
3	chr7:120644958..120648520-chr7:120680179..120682620,4	K562	blood:
4	chr7:120646087..120648520-chr7:120680329..120682630,2	K562	blood:
5	chr7:120616082..120617788-chr7:120647461..120650370,2	K562	blood:

Variant related genes	Relation type
ENSG00000212628	chromatin interactions
ENSG00000106034	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117132058	chr7:120647830-120647831	Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs376558374	chr7:120647850-120647851	Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs548646422	chr7:120647885-120647886	Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs116777382	chr7:120647915-120647916	Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs370697934	chr7:120647923-120647924	Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs112613481	chr7:120647924-120647925	Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568466568	chr7:120647994-120647995	Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs5887004	chr7:120648021-120648022	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs34225620	chr7:120648022-120648023	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs386411135	chr7:120648035-120648036	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs367945948	chr7:120648036-120648037	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs3067977	chr7:120648039-120648040	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs78890274	chr7:120648059-120648060	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs141697780	chr7:120648096-120648097	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531570468	chr7:120648116-120648117	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs554322127	chr7:120648140-120648141	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs548100438	chr7:120648153-120648154	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs150533392	chr7:120648287-120648288	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs139593572	chr7:120648421-120648422	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs557388370	chr7:120648445-120648446	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs184250168	chr7:120648476-120648477	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs189945745	chr7:120648479-120648480	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs1118142	chr7:120648485-120648486	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs556251678	chr7:120648489-120648490	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs143326818	chr7:120648508-120648509	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs541872068	chr7:120648514-120648515	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs200471591	chr7:120648655-120648656	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs140545034	chr7:120648675-120648676	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs34741846	chr7:120648676-120648677	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs556014676	chr7:120648686-120648687	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs201525985	chr7:120648687-120648688	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs199597915	chr7:120648688-120648689	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs200388956	chr7:120648690-120648691	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs572623523	chr7:120648802-120648803	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs181162129	chr7:120648815-120648816	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs185912576	chr7:120648825-120648826	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs77102417	chr7:120648828-120648829	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs146275672	chr7:120648829-120648830	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs188763434	chr7:120648848-120648849	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs181551147	chr7:120648869-120648870	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120637200-120663600	Weak transcription	Right Ventricle	heart
2	chr7:120645800-120648000	Enhancers	HSMMtube	muscle
3	chr7:120645800-120648000	Transcr. at gene 5' and 3'	K562	blood
4	chr7:120646000-120648000	Enhancers	Fetal Lung	lung
5	chr7:120646000-120648600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:120646000-120649400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr7:120646000-120650600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr7:120646400-120648000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr7:120646600-120648000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:120646600-120648000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:120646600-120648000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:120646600-120648000	Enhancers	Ovary	ovary
13	chr7:120646600-120648000	Enhancers	Psoas Muscle	Psoas
14	chr7:120646800-120648000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:120646800-120648000	Enhancers	Left Ventricle	heart
16	chr7:120646800-120652600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:120647000-120655200	Weak transcription	Right Atrium	heart
18	chr7:120647200-120651000	Weak transcription	NHDF-Ad	bronchial
19	chr7:120647200-120651200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:120647200-120652000	Weak transcription	Adipose Nuclei	Adipose
21	chr7:120647200-120657000	Weak transcription	Fetal Kidney	kidney
22	chr7:120647200-120658800	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:120647400-120648800	Weak transcription	Aorta	Aorta
24	chr7:120647400-120650600	Weak transcription	HSMM	muscle
25	chr7:120647400-120652600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:120647400-120652600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:120647400-120656600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:120647600-120649000	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:120647600-120656200	Weak transcription	NHLF	lung
30	chr7:120647800-120648000	Enhancers	Liver	Liver
31	chr7:120647800-120648000	Enhancers	Fetal Stomach	stomach
32	chr7:120647800-120648000	Enhancers	Spleen	Spleen
33	chr7:120647800-120649000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:120647800-120650800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:120647800-120657800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr7:120648000-120648800	Weak transcription	Psoas Muscle	Psoas
37	chr7:120648000-120649000	Weak transcription	Left Ventricle	heart
38	chr7:120648000-120651000	Genic enhancers	K562	blood
39	chr7:120648000-120651600	Weak transcription	Fetal Lung	lung
40	chr7:120648000-120652000	Weak transcription	Liver	Liver
41	chr7:120648000-120652400	Weak transcription	HSMMtube	muscle
42	chr7:120648000-120653000	Weak transcription	Fetal Stomach	stomach
43	chr7:120648000-120653000	Weak transcription	Spleen	Spleen
44	chr7:120648000-120655200	Weak transcription	Ovary	ovary
45	chr7:120648000-120655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:120648000-120656200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr7:120648000-120656400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:120648600-120652000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:120648800-120649400	Enhancers	Aorta	Aorta
50	chr7:120648800-120649600	Enhancers	Psoas Muscle	Psoas

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