Variant report

Variant	nsv607964
Chromosome Location	chr7:100334093-100344359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100336156..100338514-chr7:100343827..100346025,2	K562	blood:
2	chr7:100033824..100035649-chr7:100341389..100343074,2	K562	blood:
3	chr7:100336156..100338514-chr7:100343827..100346025,2	K562	blood:
4	chr7:100164565..100167457-chr7:100344225..100346169,2	K562	blood:
5	chr7:100330076..100331647-chr7:100341645..100343390,2	K562	blood:

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

Extended variants
information (count: 372 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:372 , 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	rs182342465	chr7:100334131-100334132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374893086	chr7:100334137-100334138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185030445	chr7:100334144-100334145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199612069	chr7:100334145-100334146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190206516	chr7:100334155-100334156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371093829	chr7:100334170-100334171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183149213	chr7:100334171-100334172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375614439	chr7:100334177-100334178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200760090	chr7:100334192-100334193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537401214	chr7:100334206-100334207	Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372504106	chr7:100334216-100334217	Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531140618	chr7:100334224-100334225	Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570350859	chr7:100334237-100334238	Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374844629	chr7:100334248-100334249	Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73711154	chr7:100334263-100334264	Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188430043	chr7:100334304-100334305	Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535094972	chr7:100334351-100334352	Weak transcription Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116793188	chr7:100334424-100334425	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs373383054	chr7:100334430-100334431	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs193026202	chr7:100334470-100334471	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs369510296	chr7:100334485-100334486	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs374155932	chr7:100334486-100334487	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs546510309	chr7:100334499-100334500	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs377492790	chr7:100334500-100334501	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs34828430	chr7:100334516-100334517	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114594978	chr7:100334520-100334521	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs75834296	chr7:100334556-100334557	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs562124194	chr7:100334566-100334567	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs370529857	chr7:100334573-100334574	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs200501007	chr7:100334605-100334606	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs529432579	chr7:100334606-100334607	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs201467036	chr7:100334608-100334609	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs200060236	chr7:100334668-100334669	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs569528616	chr7:100334680-100334681	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs374256303	chr7:100334736-100334737	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs544279343	chr7:100334739-100334740	Genic enhancers Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs562932336	chr7:100334807-100334808	Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs530702519	chr7:100334832-100334833	Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs10243399	chr7:100334855-100334856	Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs114183970	chr7:100334903-100334904	Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs183887733	chr7:100334905-100334906	Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs528229272	chr7:100334918-100334919	Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs374091129	chr7:100334929-100334930	Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs267601184	chr7:100334969-100334970	Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs367593224	chr7:100334970-100334971	Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs371861902	chr7:100334971-100334972	Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs375717396	chr7:100335004-100335005	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60177280	chr7:100335051-100335052	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs539462950	chr7:100335052-100335053	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558446810	chr7:100335055-100335056	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 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	chr7:100329200-100334400	Enhancers	HepG2	liver
4	chr7:100333000-100334200	Enhancers	Liver	Liver
5	chr7:100334200-100334400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:100334200-100334800	Enhancers	Fetal Intestine Large	intestine
7	chr7:100334400-100334600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:100334400-100334800	Flanking Active TSS	HepG2	liver
9	chr7:100334400-100335000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:100334800-100335000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:100334800-100335000	Active TSS	HepG2	liver
12	chr7:100335000-100336000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:100335000-100336000	Weak transcription	HepG2	liver
14	chr7:100336000-100337400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:100336000-100337600	Enhancers	HepG2	liver
16	chr7:100337400-100337800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:100337600-100338000	Flanking Active TSS	HepG2	liver
18	chr7:100340600-100342800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:100342000-100342400	Enhancers	Placenta	Placenta
20	chr7:100342400-100343000	Active TSS	Placenta	Placenta
21	chr7:100342600-100342800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:100342600-100342800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr7:100342600-100342800	Active TSS	Fetal Intestine Large	intestine
24	chr7:100342600-100342800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr7:100342600-100342800	Active TSS	Pancreas	Pancrea
26	chr7:100342600-100342800	Enhancers	Spleen	Spleen
27	chr7:100342600-100343000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:100342600-100343000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:100342600-100343000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:100342600-100343000	Active TSS	Esophagus	oesophagus
31	chr7:100342600-100343000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
32	chr7:100342600-100343200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr7:100342600-100343200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:100342600-100343200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:100342600-100343200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:100342600-100343200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
37	chr7:100342600-100343200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:100342600-100343200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:100342600-100343200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr7:100342600-100343200	Active TSS	Duodenum Mucosa	Duodenum
41	chr7:100342600-100343200	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr7:100342600-100343200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
43	chr7:100342600-100343200	Active TSS	NHDF-Ad	bronchial
44	chr7:100342600-100343400	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr7:100342600-100343400	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr7:100342600-100343400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:100342600-100343400	Active TSS	Fetal Kidney	kidney
48	chr7:100342600-100343400	Active TSS	Fetal Lung	lung
49	chr7:100342600-100343400	Active TSS	Ovary	ovary
50	chr7:100342800-100343000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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