Variant report

Variant	esv1825098
Chromosome Location	chr7:100332291-100343168
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100033824..100035649-chr7:100341389..100343074,2	K562	blood:
2	chr7:100336156..100338514-chr7:100343827..100346025,2	K562	blood:
3	chr7:100330076..100331647-chr7:100341645..100343390,2	K562	blood:

Variant related genes	Relation type
ENSG00000146839	chromatin interactions
ENSG00000240211	chromatin interactions
ENSG00000160813	chromatin interactions

Extended variants
information (count: 380 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565007512	chr7:100332325-100332326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141523101	chr7:100332367-100332368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181201709	chr7:100332377-100332378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116869417	chr7:100332395-100332396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530367595	chr7:100332499-100332500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548762342	chr7:100332500-100332501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570187388	chr7:100332529-100332530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531150006	chr7:100332534-100332535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552359164	chr7:100332537-100332538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186856462	chr7:100332540-100332541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536342153	chr7:100332565-100332566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534975110	chr7:100332575-100332576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190111227	chr7:100332577-100332578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565975761	chr7:100332579-100332580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150890478	chr7:100332580-100332581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112451956	chr7:100332650-100332651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576124253	chr7:100332731-100332732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368656208	chr7:100332736-100332737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529321528	chr7:100332754-100332755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546983442	chr7:100332813-100332814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575109858	chr7:100332966-100332967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3895793	chr7:100332997-100332998	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558322675	chr7:100333021-100333022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566199181	chr7:100333070-100333071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535776712	chr7:100333090-100333091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538562850	chr7:100333100-100333101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576542645	chr7:100333102-100333103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566707975	chr7:100333171-100333172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540618002	chr7:100333172-100333173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368199475	chr7:100333174-100333175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112964818	chr7:100333192-100333193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558972907	chr7:100333205-100333206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377097841	chr7:100333219-100333220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558376646	chr7:100333251-100333252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574772776	chr7:100333252-100333253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146175856	chr7:100333270-100333271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73711152	chr7:100333306-100333307	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530958869	chr7:100333360-100333361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199991476	chr7:100333426-100333427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552747000	chr7:100333443-100333444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564562045	chr7:100333463-100333464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528642234	chr7:100333490-100333491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111408615	chr7:100333539-100333540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73170778	chr7:100333558-100333559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535858748	chr7:100333579-100333580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548157752	chr7:100333583-100333584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569936301	chr7:100333599-100333600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117956605	chr7:100333643-100333644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74895811	chr7:100333657-100333658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542132769	chr7:100333663-100333664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Acute lymphoblastic leukemia	21339820	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100319200-100342800	Weak transcription	Right Atrium	heart
2	chr7:100323800-100334400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:100325400-100333000	Weak transcription	Liver	Liver
4	chr7:100329200-100334400	Enhancers	HepG2	liver
5	chr7:100333000-100334200	Enhancers	Liver	Liver
6	chr7:100334200-100334400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:100334200-100334800	Enhancers	Fetal Intestine Large	intestine
8	chr7:100334400-100334600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:100334400-100334800	Flanking Active TSS	HepG2	liver
10	chr7:100334400-100335000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:100334800-100335000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:100334800-100335000	Active TSS	HepG2	liver
13	chr7:100335000-100336000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:100335000-100336000	Weak transcription	HepG2	liver
15	chr7:100336000-100337400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:100336000-100337600	Enhancers	HepG2	liver
17	chr7:100337400-100337800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:100337600-100338000	Flanking Active TSS	HepG2	liver
19	chr7:100340600-100342800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:100342000-100342400	Enhancers	Placenta	Placenta
21	chr7:100342400-100343000	Active TSS	Placenta	Placenta
22	chr7:100342600-100342800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:100342600-100342800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr7:100342600-100342800	Active TSS	Fetal Intestine Large	intestine
25	chr7:100342600-100342800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr7:100342600-100342800	Active TSS	Pancreas	Pancrea
27	chr7:100342600-100342800	Enhancers	Spleen	Spleen
28	chr7:100342600-100343000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:100342600-100343000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:100342600-100343000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:100342600-100343000	Active TSS	Esophagus	oesophagus
32	chr7:100342600-100343000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
33	chr7:100342600-100343200	Active TSS	H1 Cell Line	embryonic stem cell
34	chr7:100342600-100343200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:100342600-100343200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:100342600-100343200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:100342600-100343200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
38	chr7:100342600-100343200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:100342600-100343200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:100342600-100343200	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr7:100342600-100343200	Active TSS	Duodenum Mucosa	Duodenum
42	chr7:100342600-100343200	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr7:100342600-100343200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
44	chr7:100342600-100343200	Active TSS	NHDF-Ad	bronchial
45	chr7:100342600-100343400	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr7:100342600-100343400	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr7:100342600-100343400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:100342600-100343400	Active TSS	Fetal Kidney	kidney
49	chr7:100342600-100343400	Active TSS	Fetal Lung	lung
50	chr7:100342600-100343400	Active TSS	Ovary	ovary

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