Variant report

Variant	nsv966873
Chromosome Location	chr7:102798505-102805358
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:102788301..102790522-chr7:102804564..102807525,2	K562	blood:
2	chr7:35082428..35085221-chr7:102798030..102799593,2	MCF-7	breast:
3	chr7:102787455..102790640-chr7:102797727..102800221,5	K562	blood:
4	chr7:102799119..102800765-chr7:102801413..102803528,2	MCF-7	breast:
5	chr7:102799119..102800765-chr7:102801413..102803528,2	MCF-7	breast:
6	chr7:102789022..102791029-chr7:102804564..102807367,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NAPEPLD-4	chr7:102802394-102803107	NONHSAT122539

No data

Variant related genes	Relation type
ENSG00000161048	chromatin interactions

Extended variants
information (count: 325 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:325 , 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	rs116544297	chr7:102798509-102798510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531417958	chr7:102798513-102798514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550043138	chr7:102798536-102798537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571559299	chr7:102798541-102798542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532474218	chr7:102798570-102798571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188891582	chr7:102798620-102798621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs13229368	chr7:102798631-102798632	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs536316286	chr7:102798731-102798732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs183522043	chr7:102798737-102798738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs111793604	chr7:102798771-102798772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567806015	chr7:102798774-102798775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs5025411	chr7:102798779-102798780	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs556367148	chr7:102798803-102798804	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4360229	chr7:102798857-102798858	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs528943749	chr7:102798961-102798962	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4523183	chr7:102798993-102798994	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs554109162	chr7:102799004-102799005	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572354225	chr7:102799007-102799008	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138850094	chr7:102799026-102799027	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561218649	chr7:102799042-102799043	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4480047	chr7:102799053-102799054	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs187107675	chr7:102799079-102799080	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs117640985	chr7:102799102-102799103	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs147485140	chr7:102799117-102799118	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547733894	chr7:102799210-102799211	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4428604	chr7:102799211-102799212	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs529666534	chr7:102799244-102799245	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200367501	chr7:102799362-102799363	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558178076	chr7:102799391-102799392	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs1861732	chr7:102799401-102799402	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536784593	chr7:102799402-102799403	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs1861731	chr7:102799409-102799410	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs571530401	chr7:102799418-102799419	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538900717	chr7:102799427-102799428	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554181247	chr7:102799438-102799439	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572741596	chr7:102799453-102799454	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191606796	chr7:102799459-102799460	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs3987937	chr7:102799491-102799492	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs184471049	chr7:102799501-102799502	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs112233835	chr7:102799510-102799511	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565043735	chr7:102799533-102799534	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs577113681	chr7:102799651-102799652	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs139681701	chr7:102799722-102799723	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376874451	chr7:102799789-102799790	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs35603050	chr7:102799860-102799861	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200415991	chr7:102799868-102799869	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559378073	chr7:102799886-102799887	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530051060	chr7:102799901-102799902	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181604464	chr7:102799903-102799904	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563310586	chr7:102799916-102799917	Enhancers Weak transcription	Chromatin interactive region	1 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
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
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21510904	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102790200-102803200	Weak transcription	Gastric	stomach
2	chr7:102794800-102798600	Weak transcription	K562	blood
3	chr7:102794800-102803200	Weak transcription	Fetal Intestine Large	intestine
4	chr7:102798600-102800000	Enhancers	K562	blood
5	chr7:102798800-102800000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:102800000-102802000	Weak transcription	K562	blood
7	chr7:102801200-102802400	Enhancers	Lung	lung
8	chr7:102801600-102801800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr7:102801600-102803400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:102801800-102802400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:102801800-102803200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:102802000-102802200	Enhancers	K562	blood
13	chr7:102802000-102803200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:102802000-102804800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:102802200-102802800	Weak transcription	K562	blood
16	chr7:102802200-102803200	Enhancers	Osteobl	bone
17	chr7:102802200-102803600	Enhancers	Fetal Intestine Small	intestine
18	chr7:102802400-102803600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr7:102802400-102804600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:102802400-102804600	Enhancers	NH-A	brain
21	chr7:102802600-102802800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:102802600-102803800	Enhancers	NHEK	skin
23	chr7:102803000-102803600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:102803200-102803400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:102803200-102803600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:102803200-102803600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:102803200-102803600	Enhancers	Adipose Nuclei	Adipose
28	chr7:102803200-102803600	Enhancers	Gastric	stomach
29	chr7:102803200-102803600	Flanking Active TSS	Osteobl	bone
30	chr7:102803200-102803800	Enhancers	Fetal Intestine Large	intestine
31	chr7:102803200-102804000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr7:102803200-102804000	Enhancers	NHDF-Ad	bronchial
33	chr7:102803400-102803600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:102803400-102803600	Enhancers	Duodenum Mucosa	Duodenum
35	chr7:102803400-102803800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:102803400-102804200	Enhancers	Brain Anterior Caudate	brain
37	chr7:102803400-102804600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:102803600-102804600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:102803600-102805000	Enhancers	Osteobl	bone
40	chr7:102803600-102807400	Weak transcription	Adipose Nuclei	Adipose
41	chr7:102803800-102804200	Weak transcription	NHEK	skin
42	chr7:102803800-102805200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:102804000-102804200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:102804200-102804600	Enhancers	NHEK	skin
45	chr7:102804600-102807400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:102805200-102806600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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