Variant report

Variant	nsv981555
Chromosome Location	chr7:99346675-99355848
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99348892..99351554-chr7:99353145..99355344,2	MCF-7	breast:
2	chr7:99348892..99351554-chr7:99353145..99355344,2	MCF-7	breast:
3	chr7:99213903..99216853-chr7:99350391..99352771,2	K562	blood:
4	chr7:99355786..99358236-chr7:99360607..99362683,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CYP3A4	hsa-miR-27b-3p	chr7:99355142-99355162

Variant related genes	Relation type
ENSG00000197037	chromatin interactions

Extended variants
information (count: 325 )
Associated
traits (count: 95 )

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	rs571262961	chr7:99346697-99346698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564460280	chr7:99346766-99346767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188478455	chr7:99346826-99346827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140617759	chr7:99346833-99346834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191713694	chr7:99346838-99346839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529411252	chr7:99346865-99346866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548354129	chr7:99346867-99346868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569897126	chr7:99346913-99346914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530751078	chr7:99346916-99346917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374221776	chr7:99346917-99346918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552467788	chr7:99346936-99346937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570769697	chr7:99346970-99346971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10234168	chr7:99346989-99346990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374445945	chr7:99347082-99347083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2204127	chr7:99347087-99347088	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559316630	chr7:99347092-99347093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148146946	chr7:99347111-99347112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141942688	chr7:99347131-99347132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535230639	chr7:99347147-99347148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557111432	chr7:99347153-99347154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77787272	chr7:99347160-99347161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150703182	chr7:99347173-99347174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184901031	chr7:99347252-99347253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368629834	chr7:99347285-99347286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77052927	chr7:99347295-99347296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74719508	chr7:99347297-99347298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79815720	chr7:99347298-99347299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577496997	chr7:99347337-99347338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189896938	chr7:99347346-99347347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181533611	chr7:99347347-99347348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6958915	chr7:99347406-99347407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4078424	chr7:99347418-99347419	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561978637	chr7:99347425-99347426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574060352	chr7:99347452-99347453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544691910	chr7:99347454-99347455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562988073	chr7:99347458-99347459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530685755	chr7:99347477-99347478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552405148	chr7:99347486-99347487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386716098	chr7:99347490-99347491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs57623722	chr7:99347491-99347492	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546561286	chr7:99347498-99347499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567992154	chr7:99347501-99347502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2014764	chr7:99347506-99347507	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs550225468	chr7:99347540-99347541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568619707	chr7:99347567-99347568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186975964	chr7:99347578-99347579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143265854	chr7:99347585-99347586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573471040	chr7:99347611-99347612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556167177	chr7:99347624-99347625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs28430982	chr7:99347640-99347641	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
Cancer	20164919	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99311800-99349000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:99339200-99352200	Weak transcription	Left Ventricle	heart
3	chr7:99341000-99348000	Weak transcription	Pancreas	Pancrea
4	chr7:99345800-99348200	Weak transcription	HepG2	liver
5	chr7:99346000-99346800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:99346000-99347400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:99346200-99350200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr7:99346400-99346800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:99346400-99350400	Enhancers	HMEC	breast
10	chr7:99346600-99347400	Enhancers	Hela-S3	cervix
11	chr7:99346600-99350200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:99346600-99350200	Enhancers	NHEK	skin
13	chr7:99346600-99350400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:99346800-99347000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:99346800-99350000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:99347400-99347800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:99347400-99347800	Weak transcription	Hela-S3	cervix
18	chr7:99347400-99348600	Enhancers	Esophagus	oesophagus
19	chr7:99347600-99348200	Weak transcription	Aorta	Aorta
20	chr7:99347800-99349000	Enhancers	Hela-S3	cervix
21	chr7:99347800-99350400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:99348000-99348200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:99348000-99348600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:99348000-99348600	Enhancers	Pancreas	Pancrea
25	chr7:99348000-99348600	Enhancers	Rectal Smooth Muscle	rectum
26	chr7:99348000-99348600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr7:99348000-99349000	Enhancers	A549	lung
28	chr7:99348000-99350800	Enhancers	Fetal Intestine Small	intestine
29	chr7:99348000-99351000	Enhancers	Fetal Intestine Large	intestine
30	chr7:99348000-99351000	Enhancers	Stomach Mucosa	stomach
31	chr7:99348200-99348400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:99348200-99348400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:99348200-99348600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:99348200-99348600	Enhancers	Gastric	stomach
35	chr7:99348200-99348600	Enhancers	Lung	lung
36	chr7:99348200-99349000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:99348200-99349400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr7:99348200-99349600	Enhancers	Duodenum Mucosa	Duodenum
39	chr7:99348200-99349800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:99348200-99350000	Enhancers	K562	blood
41	chr7:99348200-99351000	Enhancers	HepG2	liver
42	chr7:99348400-99348600	Enhancers	Fetal Lung	lung
43	chr7:99348400-99349400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:99348400-99349600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:99348400-99350000	Enhancers	Colon Smooth Muscle	Colon
46	chr7:99348400-99350200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:99348400-99350200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr7:99348400-99350800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:99348600-99349000	Weak transcription	Aorta	Aorta
50	chr7:99348600-99349600	Weak transcription	Esophagus	oesophagus

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