Variant report

Variant	esv1812888
Chromosome Location	chr7:137283212-137366467
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:61)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:137290583..137291474-chr7:137583144..137584537,5	K562	blood:
2	chr7:137290578..137292959-chr7:137306548..137309065,2	K562	blood:
3	chr7:137337604..137340616-chr7:137341640..137344168,3	MCF-7	breast:
4	chr7:137288310..137290144-chr7:137293453..137295736,2	K562	blood:
5	chr7:137350182..137352785-chr7:137361022..137363744,2	K562	blood:
6	chr7:137301731..137303371-chr7:137306358..137309035,2	K562	blood:
7	chr7:137327026..137328624-chr7:137333042..137335182,2	K562	blood:
8	chr7:137297411..137300337-chr7:137300736..137303081,2	K562	blood:
9	chr7:137310929..137311811-chr7:137583987..137584487,2	K562	blood:
10	chr7:137329825..137332632-chr7:137334342..137336866,3	K562	blood:
11	chr7:137358034..137360973-chr7:137366222..137368060,2	K562	blood:
12	chr7:137308348..137310961-chr7:137322532..137324455,2	MCF-7	breast:
13	chr7:137336966..137339128-chr7:137342680..137344725,2	K562	blood:
14	chr7:137337604..137340616-chr7:137341640..137344168,3	MCF-7	breast:
15	chr7:137364114..137367092-chr7:137379026..137381477,2	K562	blood:
16	chr7:137305396..137308884-chr7:137312892..137314818,3	K562	blood:
17	chr7:137297007..137298885-chr7:137300621..137303566,2	MCF-7	breast:
18	chr7:137288880..137290433-chr7:137310502..137312160,2	MCF-7	breast:
19	chr7:137293881..137295799-chr7:137306408..137308804,2	K562	blood:
20	chr7:137327026..137328624-chr7:137333042..137335182,2	K562	blood:
21	chr7:137293881..137295799-chr7:137306408..137308804,2	K562	blood:
22	chr7:137301731..137303371-chr7:137306358..137309035,2	K562	blood:
23	chr7:137345989..137348723-chr7:137350389..137352699,2	K562	blood:
24	chr7:137297411..137300337-chr7:137300736..137303081,2	K562	blood:
25	chr7:137309099..137314515-chr7:137316630..137319119,5	K562	blood:
26	chr7:137138687..137139342-chr7:137290579..137291478,2	K562	blood:
27	chr7:137298756..137299295-chr7:137307079..137307656,2	MCF-7	breast:
28	chr7:137348720..137350884-chr7:138042291..138044581,2	MCF-7	breast:
29	chr7:137290857..137291501-chr7:137310963..137311875,3	MCF-7	breast:
30	chr7:137297007..137298885-chr7:137300621..137303566,2	MCF-7	breast:
31	chr7:137326769..137328624-chr7:137333042..137335540,3	K562	blood:
32	chr7:137319572..137321937-chr7:137325565..137327156,2	MCF-7	breast:
33	chr7:137305396..137308884-chr7:137312892..137314818,3	K562	blood:
34	chr7:137285346..137287322-chr7:137572540..137575498,2	K562	blood:
35	chr7:137340709..137341435-chr7:137583555..137584518,6	K562	blood:
36	chr7:137308348..137310961-chr7:137322532..137324455,2	MCF-7	breast:
37	chr7:137286201..137288497-chr7:137309062..137311154,2	K562	blood:
38	chr7:137325069..137326680-chr7:137328056..137330129,2	K562	blood:
39	chr7:137298756..137299295-chr7:137307079..137307656,2	MCF-7	breast:
40	chr7:137326769..137328624-chr7:137333042..137335540,3	K562	blood:
41	chr7:137350182..137352785-chr7:137361022..137363744,2	K562	blood:
42	chr7:137290578..137292959-chr7:137306548..137309065,2	K562	blood:
43	chr7:137290258..137291771-chr7:137583549..137584521,7	MCF-7	breast:
44	chr7:137288880..137290433-chr7:137310502..137312160,2	MCF-7	breast:
45	chr7:137345989..137348723-chr7:137350389..137352699,2	K562	blood:
46	chr7:135345198..135347329-chr7:137294054..137295838,2	K562	blood:
47	chr7:137290857..137291501-chr7:137310963..137311875,3	MCF-7	breast:
48	chr7:137301731..137304406-chr7:137306358..137308268,2	K562	blood:
49	chr7:137340758..137342211-chr7:137583440..137584629,9	MCF-7	breast:
50	chr7:137319572..137321937-chr7:137325565..137327156,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CREB3L2-2	chr7:137352557-137353558	NONHSAT123585
2	lnc-AKR1D1-6	chr7:137337581-137337676	l_3488_chr7:137337580-137357129_testes
3	lnc-AKR1D1-6	chr7:137356474-137357129	l_3488_chr7:137337580-137357129_testes
4	lnc-AKR1D1-6	chr7:137339842-137340145	l_3488_chr7:137337580-137357129_testes

No data

Variant related genes	Relation type
ENSG00000243317	chromatin interactions

Extended variants
information (count: 3328 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:3328 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs706567	chr7:137283212-137283213	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528492310	chr7:137283219-137283220	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548159007	chr7:137283268-137283269	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537963783	chr7:137283297-137283298	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187474699	chr7:137283341-137283342	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531102633	chr7:137283346-137283347	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77811397	chr7:137283434-137283435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547666796	chr7:137283436-137283437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148456370	chr7:137283529-137283530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539978910	chr7:137283558-137283559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200495858	chr7:137283612-137283613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552808847	chr7:137283742-137283743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71541362	chr7:137283805-137283806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142615630	chr7:137283824-137283825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535470566	chr7:137283865-137283866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555385695	chr7:137283868-137283869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575657496	chr7:137283877-137283878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537754742	chr7:137284090-137284091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557991654	chr7:137284114-137284115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577777072	chr7:137284118-137284119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554673958	chr7:137284123-137284124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200015953	chr7:137284125-137284126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55951269	chr7:137284134-137284135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190417100	chr7:137284136-137284137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6966683	chr7:137284138-137284139	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs144091863	chr7:137284139-137284140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367623960	chr7:137284140-137284141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186805709	chr7:137284141-137284142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561782317	chr7:137284155-137284156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561741464	chr7:137284157-137284158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530764595	chr7:137284185-137284186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550998037	chr7:137284305-137284306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564765149	chr7:137284326-137284327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540268832	chr7:137284341-137284342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6949094	chr7:137284359-137284360	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs566604945	chr7:137284363-137284364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111264796	chr7:137284377-137284378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535532687	chr7:137284382-137284383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549054094	chr7:137284410-137284411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529230113	chr7:137284428-137284429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537813397	chr7:137284447-137284448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs706568	chr7:137284480-137284481	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs17263177	chr7:137284511-137284512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374846782	chr7:137284522-137284523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10271043	chr7:137284524-137284525	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs374635871	chr7:137284598-137284599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530974329	chr7:137284609-137284610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150968629	chr7:137284639-137284640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149516938	chr7:137284646-137284647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368930436	chr7:137284661-137284662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Adenocarcinoma	21044232	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	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	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

Chromatin state (count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137270200-137291400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:137271400-137286600	Weak transcription	Brain Germinal Matrix	brain
3	chr7:137277000-137287400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:137277000-137287600	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:137277200-137296200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:137277200-137326800	Weak transcription	Osteobl	bone
7	chr7:137277400-137283800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:137277400-137287600	Weak transcription	Brain Anterior Caudate	brain
9	chr7:137277400-137312000	Weak transcription	Brain Angular Gyrus	brain
10	chr7:137277600-137315400	Weak transcription	NH-A	brain
11	chr7:137277800-137287600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:137277800-137292000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:137278400-137304200	Weak transcription	Aorta	Aorta
14	chr7:137281800-137284800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:137282800-137283400	Enhancers	HSMM	muscle
16	chr7:137282800-137337400	Weak transcription	HSMMtube	muscle
17	chr7:137283200-137283800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:137283400-137302600	Weak transcription	HSMM	muscle
19	chr7:137283800-137284600	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr7:137283800-137285200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:137284600-137292200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:137284800-137286200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:137285200-137286000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:137286000-137286800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:137286200-137286800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:137286600-137286800	Enhancers	Brain Germinal Matrix	brain
27	chr7:137286800-137290400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:137286800-137292200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:137287400-137289400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:137287600-137288000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:137287600-137288000	Enhancers	Brain Anterior Caudate	brain
32	chr7:137287600-137288000	Enhancers	Brain Hippocampus Middle	brain
33	chr7:137287600-137288200	Enhancers	Brain Cingulate Gyrus	brain
34	chr7:137287800-137289000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr7:137288000-137310800	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:137288600-137288800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:137288800-137296600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:137289400-137296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:137290400-137291000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:137290400-137291600	Weak transcription	Fetal Brain Female	brain
41	chr7:137291000-137291200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:137291200-137294800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:137291600-137291800	Genic enhancers	Fetal Brain Female	brain
44	chr7:137291800-137297400	Weak transcription	Fetal Brain Female	brain
45	chr7:137292200-137294000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:137292200-137294200	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr7:137293800-137294600	Enhancers	Placenta	Placenta
48	chr7:137293800-137294800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:137293800-137294800	Enhancers	Fetal Heart	heart
50	chr7:137294000-137328400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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