Variant report

Variant	esv1846736
Chromosome Location	chr7:16168502-16173482
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	chr7:16163332..16166682-chr7:16168579..16171460,3	K562	blood:
2	chr5:118549863..118550376-chr7:16168238..16169156,2	MCF-7	breast:

Extended variants
information (count: 168 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10269890	chr7:16168502-16168503	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180927080	chr7:16168626-16168627	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs547613490	chr7:16168661-16168662	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186422784	chr7:16168664-16168665	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs114321651	chr7:16168668-16168669	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs10240830	chr7:16168686-16168687	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6968537	chr7:16168708-16168709	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs533143544	chr7:16168748-16168749	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538175672	chr7:16168826-16168827	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs77036983	chr7:16168833-16168834	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs556052224	chr7:16168841-16168842	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145863725	chr7:16168869-16168870	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs569279240	chr7:16168912-16168913	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs1990364	chr7:16168925-16168926	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs368880947	chr7:16168948-16168949	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs551515107	chr7:16168961-16168962	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs372336930	chr7:16168987-16168988	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs149033614	chr7:16169059-16169060	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566878195	chr7:16169073-16169074	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555434735	chr7:16169100-16169101	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573960561	chr7:16169101-16169102	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544149146	chr7:16169126-16169127	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143006660	chr7:16169127-16169128	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532942790	chr7:16169143-16169144	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545191096	chr7:16169189-16169190	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138603060	chr7:16169284-16169285	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs76836865	chr7:16169293-16169294	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs375403584	chr7:16169295-16169296	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs141606138	chr7:16169306-16169307	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs191319747	chr7:16169307-16169308	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs531749404	chr7:16169309-16169310	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs550961885	chr7:16169319-16169320	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs371431623	chr7:16169327-16169328	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs555027744	chr7:16169330-16169331	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs571915071	chr7:16169332-16169333	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs570865859	chr7:16169356-16169357	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs554382785	chr7:16169393-16169394	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs183617389	chr7:16169405-16169406	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs7786887	chr7:16169459-16169460	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs555520547	chr7:16169480-16169481	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs571848780	chr7:16169534-16169535	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs573643889	chr7:16169605-16169606	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7787081	chr7:16169625-16169626	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556137407	chr7:16169654-16169655	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2240855	chr7:16169658-16169659	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs2240856	chr7:16169677-16169678	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559943732	chr7:16169688-16169689	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7787646	chr7:16169738-16169739	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542678586	chr7:16169798-16169799	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578117461	chr7:16169836-16169837	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	19492091	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16158200-16170400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:16163400-16169000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:16165000-16169800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:16167800-16170400	Weak transcription	Left Ventricle	heart
5	chr7:16168200-16168600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:16168200-16169000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:16168200-16170800	Enhancers	HSMM	muscle
8	chr7:16168400-16168800	Enhancers	Osteobl	bone
9	chr7:16168400-16169000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:16168400-16170200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:16168600-16168800	Enhancers	HSMMtube	muscle
12	chr7:16168600-16168800	Enhancers	NH-A	brain
13	chr7:16168600-16168800	Enhancers	NHDF-Ad	bronchial
14	chr7:16168600-16169000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:16168600-16169000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:16168600-16169600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:16168600-16170000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr7:16168600-16170600	Enhancers	HMEC	breast
19	chr7:16168600-16171000	Enhancers	HUVEC	blood vessel
20	chr7:16168800-16169000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:16168800-16169200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:16168800-16169200	Flanking Active TSS	NH-A	brain
23	chr7:16168800-16169600	Flanking Active TSS	NHDF-Ad	bronchial
24	chr7:16168800-16169800	Flanking Active TSS	HSMMtube	muscle
25	chr7:16168800-16169800	Enhancers	NHEK	skin
26	chr7:16168800-16170000	Flanking Active TSS	Osteobl	bone
27	chr7:16168800-16170600	Enhancers	NHLF	lung
28	chr7:16168800-16170800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:16169000-16169200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:16169000-16169200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:16169000-16169200	Enhancers	Psoas Muscle	Psoas
32	chr7:16169000-16169400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr7:16169000-16169800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:16169000-16169800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:16169000-16170200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:16169000-16170600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:16169200-16169600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:16169200-16169600	Active TSS	NH-A	brain
39	chr7:16169200-16170200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:16169200-16170400	Weak transcription	Psoas Muscle	Psoas
41	chr7:16169400-16169600	Enhancers	Fetal Muscle Leg	muscle
42	chr7:16169400-16170400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr7:16169400-16170400	Enhancers	Hela-S3	cervix
44	chr7:16169600-16170400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:16169600-16170600	Enhancers	NH-A	brain
46	chr7:16169600-16171000	Enhancers	NHDF-Ad	bronchial
47	chr7:16169600-16171200	Enhancers	Placenta Amnion	Placenta Amnion
48	chr7:16169800-16170200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:16169800-16170200	Weak transcription	Fetal Muscle Leg	muscle
50	chr7:16169800-16170600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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