Variant report

Variant	esv3477400
Chromosome Location	chr7:97496254-97496743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:97495628-97496571	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:97494478-97496557	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:97495491-97496525	K562	blood:	n/a	n/a
4	POLR2A	chr7:97496008-97496343	K562	blood:	n/a	n/a
5	POLR2A	chr7:97495552-97496525	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:97496202-97496389	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:97495940-97496311	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:97480607-97497455	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:97495363..97496869-chr8:47517938..47519464,2	K562	blood:
2	chr7:97496316..97498581-chr7:97499278..97501918,3	MCF-7	breast:
3	chr7:97494814..97497659-chr7:97498780..97501384,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226744	TF binding region
ENSG00000226744	chromatin interactions
ENSG00000070669	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548648571	chr7:97496255-97496256	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs568468532	chr7:97496259-97496260	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs200216747	chr7:97496276-97496277	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs7810492	chr7:97496289-97496290	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs201141617	chr7:97496293-97496294	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs199646479	chr7:97496315-97496316	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs547731438	chr7:97496358-97496359	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs145371386	chr7:97496387-97496388	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs374447307	chr7:97496391-97496392	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs77007809	chr7:97496439-97496440	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs199946156	chr7:97496467-97496468	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs55650324	chr7:97496468-97496469	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs397727385	chr7:97496471-97496472	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs539285385	chr7:97496495-97496496	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201717126	chr7:97496562-97496563	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs190786875	chr7:97496607-97496608	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs371991341	chr7:97496643-97496644	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs386508511	chr7:97496665-97496666	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs76086622	chr7:97496706-97496707	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs78245903	chr7:97496709-97496710	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113501161	chr7:97496713-97496714	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	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
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97477600-97500600	Weak transcription	Thymus	Thymus
2	chr7:97479000-97501000	Weak transcription	Fetal Intestine Large	intestine
3	chr7:97479200-97500800	Weak transcription	Right Ventricle	heart
4	chr7:97479400-97501000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:97479400-97501000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:97479600-97501000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:97479800-97500200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:97480200-97500600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:97480600-97498200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:97480600-97498200	Strong transcription	K562	blood
11	chr7:97480600-97498600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:97480800-97498400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:97481000-97500600	Weak transcription	NHDF-Ad	bronchial
14	chr7:97481200-97498000	Weak transcription	Fetal Brain Male	brain
15	chr7:97481400-97500600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:97481400-97500600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:97481400-97500600	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:97481400-97501000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:97481800-97500800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:97481800-97501000	Weak transcription	Fetal Intestine Small	intestine
21	chr7:97481800-97501000	Weak transcription	Gastric	stomach
22	chr7:97481800-97501000	Weak transcription	Pancreas	Pancrea
23	chr7:97481800-97501000	Weak transcription	Spleen	Spleen
24	chr7:97482000-97498200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:97482200-97497800	Weak transcription	HMEC	breast
26	chr7:97482800-97500800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:97483600-97500600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:97483600-97500800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:97483800-97500800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:97484000-97500400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:97484200-97500600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:97484200-97501000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr7:97484600-97501000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:97485800-97497000	Weak transcription	Hela-S3	cervix
35	chr7:97486200-97500800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:97486200-97501000	Weak transcription	Fetal Lung	lung
37	chr7:97486600-97501000	Weak transcription	Small Intestine	intestine
38	chr7:97487200-97500800	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:97487600-97497800	Weak transcription	Brain Anterior Caudate	brain
40	chr7:97487800-97498000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:97487800-97499400	Weak transcription	Brain Hippocampus Middle	brain
42	chr7:97487800-97499800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr7:97487800-97500200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr7:97487800-97500400	Weak transcription	Brain Angular Gyrus	brain
45	chr7:97487800-97500600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr7:97487800-97500600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr7:97487800-97500600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:97487800-97500800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:97487800-97500800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:97487800-97500800	Weak transcription	Adipose Nuclei	Adipose

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