Variant report

Variant	esv3478427
Chromosome Location	chr7:150565520-150574349
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:29)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150573077..150574072-chr7:150683253..150683875,2	K562	blood:
2	chr7:150475409..150476275-chr7:150572596..150573318,2	MCF-7	breast:
3	chr7:150567773..150569879-chr7:150653213..150655593,2	K562	blood:
4	chr7:150573882..150574791-chr7:150685692..150686215,2	K562	blood:
5	chr7:150475526..150476482-chr7:150573625..150574754,8	MCF-7	breast:
6	chr7:150564458..150567179-chr7:150567861..150571641,4	K562	blood:
7	chr7:150485004..150485681-chr7:150573803..150574496,3	MCF-7	breast:
8	chr7:150570270..150572638-chr7:150573385..150575681,2	K562	blood:
9	chr7:150573002..150574576-chr7:150869374..150870431,9	K562	blood:
10	chr7:150573795..150574494-chr7:150595524..150596109,2	MCF-7	breast:
11	chr7:150568033..150570583-chr7:150684396..150686354,2	MCF-7	breast:
12	chr7:150573562..150577370-chr7:150577412..150580576,4	K562	blood:
13	chr7:150570280..150573172-chr7:150702825..150704695,2	K562	blood:
14	chr7:150562856..150565769-chr7:150566346..150570295,3	K562	blood:
15	chr7:150564458..150567179-chr7:150567861..150571641,4	K562	blood:
16	chr20:46012793..46013386-chr7:150572985..150573564,2	MCF-7	breast:
17	chr7:150572726..150575481-chr7:150755589..150757663,2	K562	blood:
18	chr7:150475274..150476379-chr7:150573846..150574862,5	K562	blood:
19	chr7:150484477..150485748-chr7:150573549..150574883,10	MCF-7	breast:
20	chr7:150574063..150575596-chr7:150684914..150687331,2	K562	blood:
21	chr7:150570270..150572638-chr7:150573385..150575681,2	K562	blood:
22	chr7:150572299..150575283-chr7:150617480..150621735,3	K562	blood:
23	chr7:150477211..150477855-chr7:150573375..150574392,3	K562	blood:
24	chr7:150572964..150574021-chr7:150869365..150870354,3	MCF-7	breast:
25	chr7:150145511..150146032-chr7:150573896..150574858,2	K562	blood:
26	chr7:150475264..150476504-chr7:150573512..150575222,24	MCF-7	breast:
27	chr7:150564868..150567649-chr7:150590717..150593691,2	K562	blood:
28	chr7:150145854..150146458-chr7:150573963..150574703,2	MCF-7	breast:
29	chr7:150562856..150565769-chr7:150566346..150570295,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABP1-2	chr7:150568389-150569059	predAs_engstrom06_BM715580_1
2	lnc-ABP1-1	chr7:150568035-150568307	expRegAs_chr7_12357_+

No data

Variant related genes	Relation type
ENSG00000164885	chromatin interactions
ENSG00000164889	chromatin interactions

Extended variants
information (count: 339 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73468628	chr7:150565555-150565556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186922649	chr7:150565567-150565568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567128592	chr7:150565574-150565575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191826076	chr7:150565579-150565580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140200887	chr7:150565580-150565581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565823478	chr7:150565625-150565626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183321851	chr7:150565636-150565637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558131193	chr7:150565639-150565640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571889187	chr7:150565662-150565663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537756143	chr7:150565718-150565719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78060742	chr7:150565724-150565725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574303296	chr7:150565753-150565754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575114378	chr7:150565779-150565780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553138349	chr7:150565804-150565805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572873625	chr7:150565816-150565817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544723555	chr7:150565824-150565825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188261584	chr7:150565827-150565828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564886988	chr7:150565876-150565877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193165272	chr7:150565894-150565895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530380917	chr7:150565913-150565914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73727453	chr7:150565951-150565952	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11760854	chr7:150565958-150565959	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs185524435	chr7:150566042-150566043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546369940	chr7:150566090-150566091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544558855	chr7:150566159-150566160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116515036	chr7:150566236-150566237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564221070	chr7:150566241-150566242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528579252	chr7:150566254-150566255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143882964	chr7:150566257-150566258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571615965	chr7:150566292-150566293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78876061	chr7:150566296-150566297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372245534	chr7:150566322-150566323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35172397	chr7:150566324-150566325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189638546	chr7:150566338-150566339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537019646	chr7:150566375-150566376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557699877	chr7:150566377-150566378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567944579	chr7:150566391-150566392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563844913	chr7:150566401-150566402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553600003	chr7:150566417-150566418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73727454	chr7:150566439-150566440	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs116289673	chr7:150566440-150566441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558038987	chr7:150566454-150566455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113680329	chr7:150566460-150566461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146794912	chr7:150566461-150566462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148922086	chr7:150566471-150566472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539585557	chr7:150566534-150566535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10230025	chr7:150566561-150566562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58088532	chr7:150566630-150566631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191343553	chr7:150566632-150566633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560880054	chr7:150566664-150566665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150563000-150573800	Weak transcription	Fetal Stomach	stomach
2	chr7:150564200-150573800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:150564400-150565800	Weak transcription	Liver	Liver
4	chr7:150565000-150573000	Weak transcription	Ovary	ovary
5	chr7:150565800-150567400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:150565800-150567600	Enhancers	Liver	Liver
7	chr7:150567400-150573000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:150568800-150569000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:150569000-150576600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:150572000-150572200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:150572000-150574400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:150572200-150573800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:150572400-150574400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:150572400-150574600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr7:150572600-150574200	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:150572600-150574400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr7:150572600-150574800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr7:150572800-150574000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr7:150572800-150574400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr7:150572800-150574400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:150573000-150573200	Enhancers	Brain Hippocampus Middle	brain
22	chr7:150573000-150573600	Enhancers	Ovary	ovary
23	chr7:150573000-150573800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr7:150573000-150574000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
25	chr7:150573000-150574400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr7:150573000-150574400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:150573000-150574600	Enhancers	Primary B cells from peripheral blood	blood
28	chr7:150573000-150575800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:150573200-150574000	Enhancers	Primary T cells from cord blood	blood
30	chr7:150573200-150574000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:150573200-150574200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:150573200-150574600	Enhancers	Liver	Liver
33	chr7:150573200-150574600	Enhancers	Brain Cingulate Gyrus	brain
34	chr7:150573400-150573800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:150573400-150574000	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:150573600-150573800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr7:150573600-150573800	Weak transcription	Ovary	ovary
38	chr7:150573600-150574000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:150573600-150574000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr7:150573600-150574000	Enhancers	Duodenum Mucosa	Duodenum
41	chr7:150573600-150574200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr7:150573600-150574800	Enhancers	Brain Anterior Caudate	brain
43	chr7:150573800-150574000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:150573800-150574000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:150573800-150574000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:150573800-150574000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr7:150573800-150574000	Bivalent/Poised TSS	K562	blood
48	chr7:150573800-150574200	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr7:150573800-150574200	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr7:150573800-150574200	Enhancers	Brain Inferior Temporal Lobe	brain

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