Variant report

Variant	esv3331245
Chromosome Location	chr7:137630762-137632760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137632387..137635016-chr7:137657299..137659566,2	MCF-7	breast:
2	chr7:137617789..137620376-chr7:137631763..137634379,2	K562	blood:
3	chr7:137632725..137635704-chr7:137642617..137645023,3	MCF-7	breast:
4	chr7:137621450..137623446-chr7:137630610..137633140,2	K562	blood:
5	chr7:137620440..137622660-chr7:137629916..137631573,2	MCF-7	breast:
6	chr7:137632361..137634481-chr7:137685583..137687826,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122787	chromatin interactions
ENSG00000182158	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540462402	chr7:137630766-137630767	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs273996	chr7:137630775-137630776	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574022426	chr7:137630816-137630817	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28663485	chr7:137630829-137630830	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550896536	chr7:137630833-137630834	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372338151	chr7:137630843-137630844	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571141772	chr7:137630868-137630869	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147222503	chr7:137630892-137630893	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139606557	chr7:137630942-137630943	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573219100	chr7:137630982-137630983	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535999035	chr7:137631011-137631012	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191579216	chr7:137631034-137631035	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149719314	chr7:137631048-137631049	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544432167	chr7:137631049-137631050	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79541721	chr7:137631065-137631066	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577871556	chr7:137631069-137631070	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539803981	chr7:137631073-137631074	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34011740	chr7:137631172-137631173	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545800780	chr7:137631173-137631174	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560132813	chr7:137631185-137631186	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183719410	chr7:137631224-137631225	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548698053	chr7:137631233-137631234	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116363516	chr7:137631246-137631247	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564304815	chr7:137631307-137631308	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190485594	chr7:137631460-137631461	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6968840	chr7:137631463-137631464	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550786032	chr7:137631465-137631466	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6968841	chr7:137631470-137631471	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182462359	chr7:137631486-137631487	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374157762	chr7:137631494-137631495	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533689015	chr7:137631498-137631499	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144346609	chr7:137631504-137631505	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200563706	chr7:137631508-137631509	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201240933	chr7:137631511-137631512	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368423706	chr7:137631512-137631513	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541854185	chr7:137631513-137631514	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199732533	chr7:137631515-137631516	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs58463271	chr7:137631520-137631521	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374811552	chr7:137631522-137631523	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28483289	chr7:137631532-137631533	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371094296	chr7:137631541-137631542	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11981596	chr7:137631542-137631543	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546671143	chr7:137631544-137631545	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs61028865	chr7:137631548-137631549	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543473540	chr7:137631554-137631555	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57845211	chr7:137631564-137631565	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6969011	chr7:137631572-137631573	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201075010	chr7:137631573-137631574	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs59821602	chr7:137631576-137631577	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs60540727	chr7:137631588-137631589	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	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
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137615600-137635600	Weak transcription	Hela-S3	cervix
2	chr7:137618200-137637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:137621200-137638000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:137621400-137651800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:137621800-137633800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:137622000-137643000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:137622200-137636600	Weak transcription	Esophagus	oesophagus
8	chr7:137622200-137638200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:137622200-137643200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:137622400-137638400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:137624200-137633400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:137625800-137637200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:137625800-137638200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:137626000-137632800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:137626000-137637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:137626000-137637000	Weak transcription	NHEK	skin
17	chr7:137626000-137646200	Weak transcription	HMEC	breast
18	chr7:137626400-137630800	Weak transcription	Gastric	stomach
19	chr7:137626400-137631800	Weak transcription	Lung	lung
20	chr7:137626400-137637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:137626400-137637400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr7:137626800-137631400	Enhancers	Stomach Smooth Muscle	stomach
23	chr7:137627400-137638200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:137627800-137630800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:137627800-137632200	Weak transcription	Right Ventricle	heart
26	chr7:137628200-137632200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:137628200-137637800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:137628400-137635200	Weak transcription	GM12878-XiMat	blood
29	chr7:137628600-137631200	Genic enhancers	K562	blood
30	chr7:137628600-137632600	Weak transcription	Right Atrium	heart
31	chr7:137628600-137633800	Weak transcription	Left Ventricle	heart
32	chr7:137628600-137637200	Weak transcription	Colonic Mucosa	Colon
33	chr7:137628800-137632600	Weak transcription	Psoas Muscle	Psoas
34	chr7:137628800-137636400	Weak transcription	Ovary	ovary
35	chr7:137628800-137636600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:137628800-137638600	Weak transcription	HUVEC	blood vessel
37	chr7:137629000-137630800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:137629000-137631800	Weak transcription	Small Intestine	intestine
39	chr7:137629000-137633200	Weak transcription	Fetal Heart	heart
40	chr7:137629000-137633600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:137629000-137634800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr7:137629000-137638000	Weak transcription	Adipose Nuclei	Adipose
43	chr7:137629200-137631400	Enhancers	Brain Hippocampus Middle	brain
44	chr7:137629200-137631800	Weak transcription	Stomach Mucosa	stomach
45	chr7:137629200-137632600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:137629200-137632600	Weak transcription	A549	lung
47	chr7:137629200-137633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr7:137629200-137633400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr7:137629200-137633600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:137629200-137634600	Weak transcription	Primary B cells from cord blood	blood

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