Variant report

Variant	esv1825934
Chromosome Location	chr7:112886872-112989772
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:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:112799513..112800054-chr7:112929337..112929871,2	MCF-7	breast:
2	chr6:73399794..73402765-chr7:112924925..112927140,2	MCF-7	breast:
3	chr7:112919737..112922659-chr7:112922848..112924621,2	MCF-7	breast:
4	chr7:112884087..112886574-chr7:112895452..112897129,2	MCF-7	breast:
5	chr7:112953049..112955491-chr7:112958920..112960893,2	K562	blood:
6	chr7:112655256..112655797-chr7:112929374..112930128,2	MCF-7	breast:
7	chr7:112919908..112922049-chr7:112922331..112926205,3	MCF-7	breast:
8	chr7:112914755..112918139-chr7:112919654..112923102,3	K562	blood:
9	chr7:112089237..112091482-chr7:112936057..112938859,2	MCF-7	breast:
10	chr7:112953049..112955491-chr7:112958920..112960893,2	K562	blood:
11	chr7:112809313..112813953-chr7:112918870..112922668,5	MCF-7	breast:
12	chr7:112919908..112922049-chr7:112922331..112926205,3	MCF-7	breast:
13	chr7:112811148..112812106-chr7:112921056..112921827,2	MCF-7	breast:
14	chr7:112902968..112904639-chr7:112919791..112922267,2	MCF-7	breast:
15	chr7:112882709..112884579-chr7:112885752..112887740,2	K562	blood:
16	chr7:112906005..112908006-chr7:112910862..112913062,2	K562	blood:
17	chr7:112955793..112957716-chr7:112966619..112968256,2	K562	blood:
18	chr7:112940051..112941689-chr7:112965313..112967695,2	K562	blood:
19	chr7:112965647..112967560-chr7:112969669..112971397,2	K562	blood:
20	chr7:112911185..112912742-chr7:112915427..112918300,2	K562	blood:
21	chr7:112911185..112912742-chr7:112915427..112918300,2	K562	blood:
22	chr7:112757111..112758761-chr7:112957701..112959232,2	K562	blood:
23	chr7:112811150..112812144-chr7:112920712..112921503,2	MCF-7	breast:
24	chr7:112906062..112908406-chr7:112913079..112914696,2	K562	blood:
25	chr7:112758684..112760391-chr7:112965987..112967563,2	K562	blood:
26	chr7:112950198..112952565-chr7:112958215..112960663,2	MCF-7	breast:
27	chr7:112887063..112887777-chr7:112921303..112922004,3	MCF-7	breast:
28	chr7:112949710..112952424-chr7:112954209..112957100,2	K562	blood:
29	chr7:112914755..112918139-chr7:112919654..112923102,3	K562	blood:
30	chr7:112887063..112887777-chr7:112921303..112922004,3	MCF-7	breast:
31	chr7:112815177..112817865-chr7:112886760..112888811,2	MCF-7	breast:
32	chr7:112902968..112904639-chr7:112919791..112922267,2	MCF-7	breast:
33	chr7:112903603..112905709-chr7:112919936..112922248,2	K562	blood:
34	chr7:112682248..112683838-chr7:112894672..112896979,2	K562	blood:
35	chr7:112950198..112952565-chr7:112958215..112960663,2	MCF-7	breast:
36	chr7:112934260..112936230-chr7:112936620..112938273,2	MCF-7	breast:
37	chr7:112906062..112908406-chr7:112913079..112914696,2	K562	blood:
38	chr7:112906005..112908006-chr7:112910862..112913062,2	K562	blood:
39	chr7:112903603..112905709-chr7:112919936..112922248,2	K562	blood:
40	chr7:112986796..112990552-chr7:112993911..112996520,3	MCF-7	breast:
41	chr7:112965647..112967560-chr7:112969669..112971397,2	K562	blood:
42	chr7:112949710..112952424-chr7:112954209..112957100,2	K562	blood:
43	chr7:112919539..112924993-chr7:112925229..112928766,5	MCF-7	breast:
44	chr7:112919539..112924993-chr7:112925229..112928766,5	MCF-7	breast:
45	chr7:112934260..112936230-chr7:112936620..112938273,2	MCF-7	breast:
46	chr7:112919737..112922659-chr7:112922848..112924621,2	MCF-7	breast:
47	chr7:112940051..112941689-chr7:112965313..112967695,2	K562	blood:
48	chr7:112955793..112957716-chr7:112966619..112968256,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214194	chromatin interactions
ENSG00000006652	chromatin interactions

Extended variants
information (count: 1464 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1464 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13221462	chr7:112886872-112886873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564936975	chr7:112886884-112886885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28586961	chr7:112886913-112886914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544219648	chr7:112886916-112886917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182169077	chr7:112887012-112887013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549433415	chr7:112887022-112887023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547800898	chr7:112887027-112887028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559780293	chr7:112887029-112887030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186788669	chr7:112887051-112887052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552691182	chr7:112887057-112887058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570999175	chr7:112887145-112887146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575546268	chr7:112887167-112887168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527978413	chr7:112887169-112887170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538516945	chr7:112887218-112887219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191578178	chr7:112887237-112887238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568795092	chr7:112887256-112887257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535815037	chr7:112887257-112887258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181729924	chr7:112887305-112887306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76012717	chr7:112887312-112887313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185646223	chr7:112887351-112887352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558706475	chr7:112887437-112887438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374897055	chr7:112887457-112887458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576997602	chr7:112887458-112887459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190360762	chr7:112887503-112887504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562413426	chr7:112887541-112887542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564791217	chr7:112887542-112887543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147374746	chr7:112887556-112887557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567742389	chr7:112887566-112887567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559718317	chr7:112887567-112887568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527375129	chr7:112887582-112887583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552022072	chr7:112887584-112887585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552211371	chr7:112887605-112887606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564682259	chr7:112887611-112887612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148436700	chr7:112887612-112887613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550367938	chr7:112887626-112887627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554940877	chr7:112887693-112887694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546220070	chr7:112887733-112887734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538384975	chr7:112887740-112887741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529616863	chr7:112887783-112887784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200533032	chr7:112887794-112887795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559439903	chr7:112887827-112887828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528619006	chr7:112887856-112887857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1830049	chr7:112887877-112887878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547810023	chr7:112887940-112887941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142510492	chr7:112887953-112887954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150521129	chr7:112887966-112887967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531349637	chr7:112887987-112887988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548354105	chr7:112888067-112888068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540457932	chr7:112888089-112888090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139468984	chr7:112888157-112888158	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112886400-112887400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:112887000-112887400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:112887400-112888200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:112888200-112889200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:112889200-112889400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:112896600-112897200	Enhancers	Dnd41	blood
7	chr7:112897000-112897200	Active TSS	Osteobl	bone
8	chr7:112897200-112897400	Flanking Active TSS	Osteobl	bone
9	chr7:112897200-112897600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:112897200-112897600	Flanking Active TSS	Dnd41	blood
11	chr7:112902200-112905000	Weak transcription	Right Atrium	heart
12	chr7:112903200-112904200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr7:112903200-112904200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr7:112903200-112904600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr7:112903600-112904800	Active TSS	K562	blood
16	chr7:112903800-112904400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:112906800-112907000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:112907000-112908400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:112907200-112908000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:112907600-112908000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:112907600-112908000	Enhancers	Osteobl	bone
22	chr7:112907800-112909600	ZNF genes & repeats	K562	blood
23	chr7:112908400-112909400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:112910800-112912400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:112917600-112917800	Enhancers	Fetal Heart	heart
26	chr7:112917800-112918600	Weak transcription	Fetal Heart	heart
27	chr7:112918600-112921400	Enhancers	Fetal Heart	heart
28	chr7:112918800-112919400	Enhancers	Colon Smooth Muscle	Colon
29	chr7:112919000-112919600	Enhancers	Rectal Smooth Muscle	rectum
30	chr7:112919200-112919600	Enhancers	Fetal Brain Male	brain
31	chr7:112919200-112919600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr7:112919600-112923200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr7:112921400-112923400	Weak transcription	Fetal Heart	heart
34	chr7:112923200-112923600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr7:112923400-112924200	Enhancers	Fetal Heart	heart
36	chr7:112923600-112924400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:112923600-112926600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr7:112923800-112924200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:112924200-112924400	Enhancers	Osteobl	bone
40	chr7:112924200-112924600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:112924200-112924800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:112924400-112925400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr7:112924400-112925400	Weak transcription	Osteobl	bone
44	chr7:112924600-112926000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:112924800-112925200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:112925200-112926000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:112925400-112926000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr7:112925400-112926200	Enhancers	Osteobl	bone
49	chr7:112929400-112929600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:112931200-112931800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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