Variant report

Variant	esv1801348
Chromosome Location	chr7:138571311-138581979
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:138574395..138575984-chr7:138718958..138720916,2	K562	blood:
2	chr7:138574944..138576890-chr7:138583632..138586294,2	MCF-7	breast:
3	chr7:138570397..138571370-chr7:138759680..138760395,3	MCF-7	breast:
4	chr7:138573612..138578599-chr7:138661301..138667603,11	MCF-7	breast:
5	chr7:138574052..138576288-chr7:138630549..138633108,2	MCF-7	breast:
6	chr7:138567501..138571817-chr7:138572093..138577716,5	MCF-7	breast:
7	chr7:138575014..138577482-chr7:138792538..138796142,5	MCF-7	breast:
8	chr7:138571012..138574283-chr7:138574631..138577144,3	K562	blood:
9	chr7:138574375..138576858-chr7:138634313..138637028,3	MCF-7	breast:
10	chr7:138577500..138579765-chr7:138582375..138585755,3	MCF-7	breast:
11	chr7:138547718..138550858-chr7:138574464..138577508,3	MCF-7	breast:
12	chr7:138575862..138580476-chr7:138581727..138586290,4	K562	blood:
13	chr7:138574836..138577165-chr7:138638236..138640923,2	MCF-7	breast:
14	chr7:138503529..138506242-chr7:138573661..138576363,2	MCF-7	breast:
15	chr7:138574147..138576093-chr7:139023715..139026010,2	K562	blood:
16	chr7:138578320..138581195-chr7:138583900..138587302,3	MCF-7	breast:
17	chr7:138574364..138576644-chr7:138646563..138648693,2	MCF-7	breast:
18	chr7:138574313..138575904-chr7:138707158..138708919,2	MCF-7	breast:
19	chr7:138574006..138576565-chr7:138785226..138787889,2	MCF-7	breast:
20	chr3:75692090..75692596-chr7:138578273..138578773,2	K562	blood:
21	chr7:138577888..138578693-chr9:78605923..78606872,2	MCF-7	breast:
22	chr7:138569036..138571587-chr7:138666193..138667762,2	MCF-7	breast:
23	chr7:138570907..138571898-chr7:138665894..138666664,2	K562	blood:
24	chr7:138573010..138575060-chr7:138577930..138580644,2	K562	blood:
25	chr7:138572035..138574850-chr7:138660428..138661930,2	K562	blood:
26	chr7:138570847..138572851-chr7:138718799..138721373,2	MCF-7	breast:
27	chr7:138570944..138571888-chr7:138665632..138666745,4	MCF-7	breast:
28	chr7:138581845..138584693-chr7:138588777..138590372,2	K562	blood:
29	chr7:138572835..138574537-chr7:138664228..138666151,2	MCF-7	breast:
30	chr7:138574227..138577387-chr7:138719350..138722368,3	MCF-7	breast:
31	chr7:138577901..138580476-chr7:138582807..138585174,2	K562	blood:
32	chr7:138574304..138577325-chr7:138635509..138638498,3	MCF-7	breast:
33	chr7:138575382..138577579-chr7:138665757..138667517,3	MCF-7	breast:
34	chr7:138579218..138582183-chr7:138663674..138666360,4	MCF-7	breast:
35	chr7:138575644..138577735-chr7:138590193..138591808,2	MCF-7	breast:
36	chr7:138573010..138575060-chr7:138577930..138580644,2	K562	blood:
37	chr7:138571012..138574283-chr7:138574631..138577144,3	K562	blood:
38	chr7:138570760..138571826-chr7:138759504..138760435,5	K562	blood:
39	chr7:138570090..138572493-chr7:138792959..138794460,2	MCF-7	breast:
40	chr7:138575862..138580476-chr7:138581727..138586290,4	K562	blood:
41	chr7:138574557..138577330-chr7:138680325..138683188,2	MCF-7	breast:
42	chr7:138567501..138571817-chr7:138572093..138577716,5	MCF-7	breast:
43	chr7:138573348..138576561-chr7:138590294..138593382,4	MCF-7	breast:
44	chr7:138571035..138571540-chr7:138665844..138666725,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000146963	chromatin interactions
ENSG00000105939	chromatin interactions
ENSG00000122778	chromatin interactions
ENSG00000164898	chromatin interactions
ENSG00000146858	chromatin interactions

Extended variants
information (count: 402 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146678812	chr7:138571319-138571320	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs73168937	chr7:138571327-138571328	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs116680116	chr7:138571335-138571336	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs555291613	chr7:138571341-138571342	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs574772963	chr7:138571371-138571372	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs543646178	chr7:138571403-138571404	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs185404010	chr7:138571414-138571415	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs547634910	chr7:138571427-138571428	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs140282607	chr7:138571429-138571430	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs190303293	chr7:138571433-138571434	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs559498877	chr7:138571439-138571440	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs528526700	chr7:138571441-138571442	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs548286888	chr7:138571477-138571478	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs568371815	chr7:138571484-138571485	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs145382984	chr7:138571520-138571521	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs191998447	chr7:138571529-138571530	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs567254111	chr7:138571580-138571581	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs184112513	chr7:138571627-138571628	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs76653470	chr7:138571666-138571667	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs12538169	chr7:138571677-138571678	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10267281	chr7:138571710-138571711	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs566443882	chr7:138571714-138571715	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs535463885	chr7:138571716-138571717	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs555055753	chr7:138571721-138571722	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs10267394	chr7:138571753-138571754	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs543680938	chr7:138571770-138571771	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs188504373	chr7:138571899-138571900	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs181015334	chr7:138571907-138571908	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs576984459	chr7:138572018-138572019	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs371988021	chr7:138572113-138572114	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376592581	chr7:138572118-138572119	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs73729933	chr7:138572138-138572139	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs149514288	chr7:138572190-138572191	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs528556371	chr7:138572197-138572198	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs77645090	chr7:138572202-138572203	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs577859628	chr7:138572334-138572335	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs562025441	chr7:138572369-138572370	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs530846451	chr7:138572399-138572400	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs34392633	chr7:138572428-138572429	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs112609085	chr7:138572429-138572430	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs35453455	chr7:138572451-138572452	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs538815029	chr7:138572494-138572495	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs369854138	chr7:138572567-138572568	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs143163480	chr7:138572586-138572587	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569532649	chr7:138572605-138572606	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373961594	chr7:138572606-138572607	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs565740009	chr7:138572653-138572654	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs546458589	chr7:138572676-138572677	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566598818	chr7:138572686-138572687	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535169915	chr7:138572692-138572693	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	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
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Esophageal cancer	21851588	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	22355333	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138523800-138572400	Weak transcription	Fetal Heart	heart
2	chr7:138534600-138592400	Weak transcription	Brain Angular Gyrus	brain
3	chr7:138536800-138583000	Weak transcription	HUVEC	blood vessel
4	chr7:138544600-138574800	Weak transcription	Spleen	Spleen
5	chr7:138545400-138597200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:138546200-138571400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:138549200-138596800	Weak transcription	Aorta	Aorta
8	chr7:138553000-138592200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:138554200-138581600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:138554400-138574800	Weak transcription	Esophagus	oesophagus
11	chr7:138555400-138575400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:138555600-138578800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:138556200-138575400	Weak transcription	Ovary	ovary
14	chr7:138556200-138578400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:138558600-138575000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:138558600-138575600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:138561400-138583000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:138561600-138572600	Weak transcription	A549	lung
19	chr7:138561800-138574200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:138561800-138577200	Weak transcription	HSMM	muscle
21	chr7:138562000-138575000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:138562000-138598000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:138562000-138598200	Weak transcription	HMEC	breast
24	chr7:138562200-138571400	Weak transcription	NHEK	skin
25	chr7:138562600-138580600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:138566000-138574600	Weak transcription	Fetal Lung	lung
27	chr7:138566000-138574800	Weak transcription	Placenta	Placenta
28	chr7:138566000-138575400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:138566000-138583600	Weak transcription	Lung	lung
30	chr7:138566200-138571400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:138566200-138571600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:138566200-138574400	Weak transcription	Fetal Kidney	kidney
33	chr7:138566200-138574800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr7:138566200-138575200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:138566200-138575400	Weak transcription	Fetal Intestine Small	intestine
36	chr7:138566200-138578800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:138566200-138588200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr7:138566200-138606400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:138566400-138572200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:138566400-138574200	Weak transcription	NH-A	brain
41	chr7:138566400-138575000	Weak transcription	Pancreas	Pancrea
42	chr7:138566400-138575400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr7:138566400-138575800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:138566400-138577600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:138566400-138578200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:138566400-138609800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:138566600-138572200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:138566600-138572200	Weak transcription	Fetal Muscle Leg	muscle
49	chr7:138566600-138573800	Weak transcription	Hela-S3	cervix
50	chr7:138566600-138575000	Weak transcription	Brain Inferior Temporal Lobe	brain

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