Variant report

Variant	esv274927
Chromosome Location	chr7:116382918-116395518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:116389847-116389854	GM10266	blood:	n/a	n/a
2	CTCF	chr7:116389855-116389905	GM10266	blood:	n/a	n/a
3	CTCF	chr7:116384045-116384130	GM20000	blood:	n/a	n/a
4	GATA2	chr7:116392326-116392743	HUVEC	blood vessel:	n/a	chr7:116392505-116392515
5	POLR2A	chr7:116390927-116391050	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:116394795-116394910	K562	blood:	n/a	n/a
7	POLR2A	chr7:116392365-116392813	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr7:116392436-116392832	HCT-116	colon:	n/a	n/a
9	POLR2A	chr7:116390990-116391016	GM12878	blood:	n/a	n/a
10	SPI1	chr7:116384900-116385032	K562	blood:	n/a	n/a
11	STAT3	chr7:116389422-116389438	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:116393154-116393457..7:116849860-116864942	H1-hESC	embryonic stem cell:	embryo
2	chr7:116391329..116393101-chr7:116400609..116402352,2	K562	blood:
3	chr7:116382950..116385593-chr7:116392387..116393932,2	MCF-7	breast:
4	chr7:116394347..116396793-chr7:116399682..116402308,2	K562	blood:
5	chr7:116382950..116385593-chr7:116392387..116393932,2	MCF-7	breast:
6	7:115890993-115892266..7:116389303-116393154	H1-hESC	embryonic stem cell:	embryo
7	chr7:116377829..116379958-chr7:116381598..116383954,2	MCF-7	breast:
8	7:115847372-115857098..7:116389303-116393154	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
MET	TF binding region
ENSG00000004866	chromatin interactions
ENSG00000135269	chromatin interactions

Extended variants
information (count: 514 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552374823	chr7:116382933-116382934	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs564290838	chr7:116382949-116382950	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs533425751	chr7:116382951-116382952	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs531565724	chr7:116382985-116382986	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs147148084	chr7:116382993-116382994	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs568387876	chr7:116382995-116382996	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs182225931	chr7:116383006-116383007	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs546997065	chr7:116383034-116383035	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs186462523	chr7:116383058-116383059	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs539168733	chr7:116383070-116383071	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs558691310	chr7:116383105-116383106	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577002609	chr7:116383141-116383142	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs550252261	chr7:116383160-116383161	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs538478134	chr7:116383177-116383178	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs556571788	chr7:116383191-116383192	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs563531071	chr7:116383204-116383205	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12533223	chr7:116383245-116383246	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs140372906	chr7:116383248-116383249	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371331202	chr7:116383253-116383254	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560496764	chr7:116383285-116383286	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549398651	chr7:116383301-116383302	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192578133	chr7:116383345-116383346	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185539839	chr7:116383359-116383360	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546306912	chr7:116383378-116383379	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566061763	chr7:116383381-116383382	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564596798	chr7:116383387-116383388	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535010118	chr7:116383428-116383429	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549988101	chr7:116383434-116383435	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561791444	chr7:116383444-116383445	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529190112	chr7:116383532-116383533	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546959941	chr7:116383703-116383704	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188710120	chr7:116383808-116383809	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532798220	chr7:116383810-116383811	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551059658	chr7:116383811-116383812	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569773563	chr7:116383816-116383817	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149697638	chr7:116383843-116383844	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368023482	chr7:116383856-116383857	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371636777	chr7:116383860-116383861	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536164942	chr7:116383921-116383922	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554542833	chr7:116383935-116383936	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572447489	chr7:116383946-116383947	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546264111	chr7:116383958-116383959	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112644632	chr7:116383998-116383999	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556268027	chr7:116383999-116384000	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193182346	chr7:116384005-116384006	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561940865	chr7:116384027-116384028	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185151194	chr7:116384047-116384048	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373837817	chr7:116384087-116384088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145545383	chr7:116384109-116384110	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148456388	chr7:116384145-116384146	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	16397240	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Squamous cell cancer	20885788	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	21569311	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Myxofibrosarcoma	20639860	CNVD
Clear cell adenocarcinoma	21983935	CNVD
Gastric cancer	21097718	CNVD
Adenocarcinoma	21983935	CNVD
Lung cancer	21062933	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116351800-116407000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr7:116357400-116409800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:116375000-116418400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:116375800-116411200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:116377800-116395600	Weak transcription	NH-A	brain
6	chr7:116378000-116389000	Weak transcription	Stomach Mucosa	stomach
7	chr7:116378800-116422200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:116379000-116384600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:116379000-116385200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:116379200-116384400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:116380000-116383200	Genic enhancers	HepG2	liver
12	chr7:116380400-116383800	Weak transcription	Spleen	Spleen
13	chr7:116380800-116383200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr7:116381200-116384000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:116381200-116392200	Weak transcription	HUVEC	blood vessel
16	chr7:116381400-116383000	Genic enhancers	Muscle Satellite Cultured Cells	--
17	chr7:116381400-116383200	Genic enhancers	Fetal Intestine Small	intestine
18	chr7:116381400-116413400	Weak transcription	NHLF	lung
19	chr7:116381600-116383200	Enhancers	Fetal Intestine Large	intestine
20	chr7:116381600-116383200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:116381600-116383800	Enhancers	Fetal Kidney	kidney
22	chr7:116381600-116384200	Weak transcription	Gastric	stomach
23	chr7:116381600-116398600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:116381600-116418600	Weak transcription	Aorta	Aorta
25	chr7:116381800-116383000	Weak transcription	Fetal Stomach	stomach
26	chr7:116381800-116384000	Enhancers	Fetal Muscle Leg	muscle
27	chr7:116381800-116385600	Weak transcription	Lung	lung
28	chr7:116381800-116407000	Weak transcription	Pancreas	Pancrea
29	chr7:116382000-116398000	Weak transcription	Hela-S3	cervix
30	chr7:116382000-116413400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:116382200-116384200	Strong transcription	Osteobl	bone
32	chr7:116382200-116384400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:116382200-116384400	Strong transcription	A549	lung
34	chr7:116382200-116409800	Weak transcription	Placenta	Placenta
35	chr7:116382400-116383600	Strong transcription	HSMM	muscle
36	chr7:116382400-116384000	Strong transcription	NHEK	skin
37	chr7:116382400-116384200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:116382400-116384200	Weak transcription	Fetal Lung	lung
39	chr7:116382400-116384600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:116382400-116384800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:116382400-116396400	Weak transcription	HMEC	breast
42	chr7:116382600-116384200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr7:116382800-116383000	ZNF genes & repeats	Left Ventricle	heart
44	chr7:116382800-116383000	Strong transcription	Psoas Muscle	Psoas
45	chr7:116382800-116383200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:116382800-116383200	Flanking Active TSS	Liver	Liver
47	chr7:116382800-116383800	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr7:116382800-116384000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:116382800-116384000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:116383000-116383200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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