Variant report

Variant	esv3398859
Chromosome Location	chr7:100385450-100385715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100384340..100386662-chr7:100416650..100418952,2	K562	blood:

Variant related genes	Relation type
ENSG00000263672	chromatin interactions
ENSG00000196411	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61256171	chr7:100385459-100385460	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540379267	chr7:100385464-100385465	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs185409684	chr7:100385475-100385476	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs528965448	chr7:100385480-100385481	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs544001617	chr7:100385482-100385483	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs368698145	chr7:100385509-100385510	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs73411159	chr7:100385519-100385520	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs60783739	chr7:100385532-100385533	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550969898	chr7:100385536-100385537	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs199598152	chr7:100385544-100385545	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs527997474	chr7:100385560-100385561	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs72364644	chr7:100385562-100385563	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369526619	chr7:100385563-100385564	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs112538235	chr7:100385564-100385565	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs373952854	chr7:100385568-100385569	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs549519838	chr7:100385573-100385574	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs59541653	chr7:100385578-100385579	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538315578	chr7:100385617-100385618	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs370815959	chr7:100385618-100385619	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs556742599	chr7:100385629-100385630	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs373918971	chr7:100385630-100385631	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs538996415	chr7:100385644-100385645	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs554213717	chr7:100385647-100385648	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs573067035	chr7:100385673-100385674	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs149823200	chr7:100385677-100385678	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs575862240	chr7:100385713-100385714	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs117714489	chr7:100385714-100385715	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100382600-100386600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:100382600-100391600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:100382600-100400800	Weak transcription	Right Atrium	heart
4	chr7:100382800-100391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:100384000-100388800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:100384000-100389600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:100385600-100385800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:100385600-100386800	Weak transcription	Fetal Intestine Small	intestine

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