Variant report

Variant	esv1802305
Chromosome Location	chr7:111891204-111896878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111891287..111893873-chr7:111893938..111895476,2	K562	blood:
2	chr7:111891287..111893873-chr7:111893938..111895476,2	K562	blood:
3	chr7:111896290..111898894-chr7:111908883..111911406,2	MCF-7	breast:
4	chr7:111893104..111896006-chr7:111897098..111899676,2	MCF-7	breast:
5	chr7:111845920..111848502-chr7:111890491..111892713,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128512	chromatin interactions
ENSG00000198839	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576818129	chr7:111891219-111891220	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs140152769	chr7:111891269-111891270	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs555949979	chr7:111891297-111891298	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs574416984	chr7:111891318-111891319	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs541894544	chr7:111891320-111891321	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs560018904	chr7:111891349-111891350	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs143683218	chr7:111891381-111891382	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs545436316	chr7:111891408-111891409	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs368574368	chr7:111891409-111891410	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs190608399	chr7:111891438-111891439	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs75831416	chr7:111891439-111891440	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs74429431	chr7:111891458-111891459	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs529102868	chr7:111891460-111891461	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182824039	chr7:111891488-111891489	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs13233128	chr7:111891545-111891546	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs111521115	chr7:111891573-111891574	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs534159227	chr7:111891681-111891682	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs566081571	chr7:111891693-111891694	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs539802576	chr7:111891696-111891697	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs146825433	chr7:111891751-111891752	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs114367585	chr7:111891849-111891850	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs537758315	chr7:111891872-111891873	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs555821515	chr7:111891877-111891878	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574157548	chr7:111891882-111891883	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs534955275	chr7:111891893-111891894	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs567426683	chr7:111891925-111891926	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs140511099	chr7:111891971-111891972	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs185720163	chr7:111891973-111891974	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs192377264	chr7:111891974-111891975	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs183644004	chr7:111892015-111892016	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs372683069	chr7:111892075-111892076	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs529751751	chr7:111892136-111892137	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs563752458	chr7:111892137-111892138	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs188036203	chr7:111892150-111892151	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs192315181	chr7:111892232-111892233	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs182788515	chr7:111892245-111892246	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs111852989	chr7:111892249-111892250	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs187115824	chr7:111892253-111892254	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs35271837	chr7:111892262-111892263	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs547282689	chr7:111892264-111892265	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs559751024	chr7:111892270-111892271	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs533487100	chr7:111892294-111892295	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs149975131	chr7:111892318-111892319	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs191664021	chr7:111892351-111892352	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs184619946	chr7:111892374-111892375	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs552347449	chr7:111892379-111892380	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs9986983	chr7:111892393-111892394	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567907436	chr7:111892397-111892398	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs570661779	chr7:111892449-111892450	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs189806633	chr7:111892476-111892477	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111848000-111892800	Weak transcription	Primary B cells from cord blood	blood
2	chr7:111863800-111900200	Weak transcription	Left Ventricle	heart
3	chr7:111876800-111891800	Weak transcription	Primary T cells from cord blood	blood
4	chr7:111877000-111893600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:111879400-111903000	Weak transcription	Psoas Muscle	Psoas
6	chr7:111879600-111894400	Weak transcription	Pancreas	Pancrea
7	chr7:111879800-111906200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:111881800-111906400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:111883400-111897000	Weak transcription	HepG2	liver
10	chr7:111885400-111891400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:111887000-111892200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:111889400-111892400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:111890400-111906200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:111890600-111891400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr7:111890600-111892600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
16	chr7:111890600-111893600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:111890600-111894200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:111890800-111891400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
19	chr7:111890800-111891600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr7:111890800-111896000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr7:111890800-111896200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:111891000-111891400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:111891000-111891600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr7:111891000-111892800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:111891000-111892800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
26	chr7:111891000-111895400	Weak transcription	Small Intestine	intestine
27	chr7:111891000-111896000	Enhancers	Brain Substantia Nigra	brain
28	chr7:111891200-111891400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr7:111891200-111892400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr7:111891200-111893200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
31	chr7:111891200-111893200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:111891200-111894600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:111891200-111894600	Enhancers	Brain Hippocampus Middle	brain
34	chr7:111891200-111894800	Enhancers	Brain Anterior Caudate	brain
35	chr7:111891200-111895000	Enhancers	Brain Angular Gyrus	brain
36	chr7:111891200-111896000	Enhancers	Brain Cingulate Gyrus	brain
37	chr7:111891400-111892000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:111891400-111892200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr7:111891400-111892600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
40	chr7:111891400-111895800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:111891400-111896000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr7:111891600-111892000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr7:111891600-111893200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr7:111891600-111894000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:111891800-111893200	Enhancers	Primary T cells from cord blood	blood
46	chr7:111892000-111892200	Enhancers	H9 Cell Line	embryonic stem cell
47	chr7:111892000-111892200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr7:111892000-111892200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr7:111892000-111892400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:111892000-111892600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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