Variant report

Variant	esv2755256
Chromosome Location	chr7:153147638-153170494
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:153101066..153103741-chr7:153151385..153153304,3	K562	blood:
2	chr7:153150343..153152572-chr7:153153820..153155844,2	K562	blood:
3	chr7:153092517..153095170-chr7:153147417..153149033,2	K562	blood:
4	chr7:153164128..153166408-chr7:153169798..153172057,2	K562	blood:
5	chr7:153105710..153107855-chr7:153165499..153167992,2	K562	blood:
6	chr7:153164128..153166408-chr7:153169798..153172057,2	K562	blood:
7	chr16:1825198..1826827-chr7:153150973..153152473,2	K562	blood:
8	chr7:153150343..153152572-chr7:153153820..153155844,2	K562	blood:
9	chr7:153144216..153146051-chr7:153150642..153152282,2	K562	blood:
10	chr7:153104593..153107356-chr7:153151532..153153946,4	K562	blood:
11	chr7:153105650..153108822-chr7:153162776..153165855,3	K562	blood:
12	chr7:153111734..153114146-chr7:153170231..153173109,2	K562	blood:
13	chr7:153099524..153101138-chr7:153168192..153169885,2	K562	blood:
14	chr7:153098922..153104611-chr7:153159671..153165769,5	K562	blood:
15	chr7:153098213..153100977-chr7:153153610..153156518,2	K562	blood:
16	chr7:153168165..153169692-chr7:153180801..153182343,2	K562	blood:
17	chr7:153145961..153147522-chr7:153147556..153149926,2	K562	blood:
18	chr7:153168042..153171876-chr7:153172518..153177517,5	K562	blood:
19	chr7:153103693..153106480-chr7:153169343..153171365,2	K562	blood:
20	chr7:153168007..153170058-chr7:153173069..153175885,2	K562	blood:
21	chr7:153104012..153105714-chr7:153166504..153168791,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197774	chromatin interactions
ENSG00000233489	chromatin interactions

Extended variants
information (count: 590 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12703304	chr7:153147638-153147639	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530058567	chr7:153147657-153147658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116190696	chr7:153147697-153147698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12703305	chr7:153147715-153147716	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs10276571	chr7:153147763-153147764	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs372409431	chr7:153147773-153147774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570685433	chr7:153147792-153147793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528678506	chr7:153147799-153147800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs193083576	chr7:153147806-153147807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545908844	chr7:153147916-153147917	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370215467	chr7:153147917-153147918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs139093232	chr7:153147930-153147931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200842924	chr7:153147931-153147932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558157559	chr7:153147958-153147959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566332177	chr7:153147973-153147974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185045308	chr7:153147983-153147984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373813950	chr7:153148039-153148040	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554306172	chr7:153148049-153148050	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200570242	chr7:153148052-153148053	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187618047	chr7:153148053-153148054	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573122731	chr7:153148077-153148078	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190730338	chr7:153148080-153148081	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373908881	chr7:153148159-153148160	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376662275	chr7:153148161-153148162	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537371019	chr7:153148167-153148168	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558912299	chr7:153148174-153148175	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs199506523	chr7:153148177-153148178	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145399317	chr7:153148182-153148183	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540742593	chr7:153148186-153148187	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192376409	chr7:153148196-153148197	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs541231394	chr7:153148205-153148206	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183932941	chr7:153148241-153148242	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148187072	chr7:153148244-153148245	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542191037	chr7:153148258-153148259	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs188264876	chr7:153148263-153148264	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530960043	chr7:153148267-153148268	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546055754	chr7:153148354-153148355	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12703306	chr7:153148355-153148356	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs529560066	chr7:153148380-153148381	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7803498	chr7:153148397-153148398	Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs7803638	chr7:153148407-153148408	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs6971281	chr7:153148433-153148434	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141174088	chr7:153148470-153148471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs147111627	chr7:153148499-153148500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs181356807	chr7:153148558-153148559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34599383	chr7:153148574-153148575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs138548168	chr7:153148576-153148577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs143943085	chr7:153148585-153148586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537059300	chr7:153148599-153148600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558848655	chr7:153148606-153148607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	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
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:153134400-153159200	Weak transcription	Right Atrium	heart
2	chr7:153145200-153150400	Weak transcription	Fetal Kidney	kidney
3	chr7:153148000-153148400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
4	chr7:153150400-153153600	Enhancers	Fetal Kidney	kidney
5	chr7:153153600-153155000	Weak transcription	Fetal Kidney	kidney
6	chr7:153154600-153155800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:153154800-153155800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:153154800-153155800	Enhancers	Brain Germinal Matrix	brain
9	chr7:153154800-153156000	Enhancers	Stomach Smooth Muscle	stomach
10	chr7:153155000-153155400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:153155000-153156000	Enhancers	Fetal Kidney	kidney
12	chr7:153155200-153155800	Enhancers	Colon Smooth Muscle	Colon
13	chr7:153155200-153156000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:153155600-153156000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:153167200-153168400	Bivalent Enhancer	K562	blood
16	chr7:153169400-153169800	Enhancers	Spleen	Spleen
17	chr7:153169600-153169800	Enhancers	Fetal Muscle Trunk	muscle
18	chr7:153169600-153169800	Bivalent Enhancer	K562	blood
19	chr7:153169800-153170000	Enhancers	K562	blood
20	chr7:153169800-153170600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:153169800-153170600	Enhancers	Fetal Kidney	kidney
22	chr7:153170000-153170800	Enhancers	Colon Smooth Muscle	Colon
23	chr7:153170000-153171000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:153170400-153171000	Enhancers	Ovary	ovary

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