Variant report

Variant	esv3375773
Chromosome Location	chr7:84831558-84901773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:84832592..84834381-chr7:84841159..84843217,2	K562	blood:
2	chr7:84859657..84862402-chr7:84865275..84867622,2	MCF-7	breast:
3	chr7:84832592..84834381-chr7:84841159..84843217,2	K562	blood:
4	chr7:84859657..84862402-chr7:84865275..84867622,2	MCF-7	breast:

Extended variants
information (count: 1349 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1349 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12669993	chr7:84831578-84831579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62462217	chr7:84831643-84831644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs151313278	chr7:84831667-84831668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538394163	chr7:84831726-84831727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556771992	chr7:84831789-84831790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575119789	chr7:84831794-84831795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182899551	chr7:84831799-84831800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140609866	chr7:84831812-84831813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576653002	chr7:84831838-84831839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573140575	chr7:84831850-84831851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188567605	chr7:84831861-84831862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565101691	chr7:84831878-84831879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544152798	chr7:84831895-84831896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376940401	chr7:84831901-84831902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2534859	chr7:84831922-84831923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562796125	chr7:84831926-84831927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530132250	chr7:84831953-84831954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193093194	chr7:84831994-84831995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560099050	chr7:84832100-84832101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2534858	chr7:84832103-84832104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs5885456	chr7:84832140-84832141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397702551	chr7:84832149-84832150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200536385	chr7:84832150-84832151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546002534	chr7:84832165-84832166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143906721	chr7:84832179-84832180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570752781	chr7:84832189-84832190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184913651	chr7:84832201-84832202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116628600	chr7:84832278-84832279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550652183	chr7:84832284-84832285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188150763	chr7:84832389-84832390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536259397	chr7:84832478-84832479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559504805	chr7:84832498-84832499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562877668	chr7:84832504-84832505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192379862	chr7:84832585-84832586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2534857	chr7:84832601-84832602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534126275	chr7:84832613-84832614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2534856	chr7:84832618-84832619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs75908960	chr7:84832635-84832636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568484768	chr7:84832678-84832679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544050844	chr7:84832717-84832718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183631790	chr7:84832764-84832765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79232483	chr7:84832804-84832805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2534855	chr7:84832818-84832819	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs572714292	chr7:84832824-84832825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs59100333	chr7:84832827-84832828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182075751	chr7:84832831-84832832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560162025	chr7:84832880-84832881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs718413	chr7:84832897-84832898	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs146492179	chr7:84832908-84832909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564390406	chr7:84832928-84832929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84830200-84834000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:84832800-84834200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:84835000-84835400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:84835000-84835400	Enhancers	Spleen	Spleen
5	chr7:84835000-84835400	Enhancers	HUVEC	blood vessel
6	chr7:84847200-84847600	Active TSS	HMEC	breast
7	chr7:84850000-84850800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:84850000-84850800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:84852400-84852600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:84854600-84855000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:84855800-84856800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:84859000-84859600	Enhancers	Primary B cells from cord blood	blood
13	chr7:84859400-84860600	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:84859600-84860000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr7:84860000-84860600	Enhancers	Primary B cells from cord blood	blood
16	chr7:84860600-84862800	Weak transcription	Primary B cells from cord blood	blood
17	chr7:84861200-84861400	Enhancers	Brain Hippocampus Middle	brain
18	chr7:84861200-84861600	Enhancers	Brain Angular Gyrus	brain
19	chr7:84861400-84861800	Active TSS	Brain Anterior Caudate	brain
20	chr7:84861400-84862000	Active TSS	Brain Hippocampus Middle	brain
21	chr7:84861600-84861800	Enhancers	Brain Cingulate Gyrus	brain
22	chr7:84861800-84862200	Enhancers	Brain Anterior Caudate	brain
23	chr7:84862000-84862400	Enhancers	Brain Hippocampus Middle	brain
24	chr7:84862800-84864400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:84863000-84864400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:84863800-84864400	Enhancers	Fetal Stomach	stomach
27	chr7:84864400-84868400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:84866600-84866800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:84868400-84869200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:84871200-84872200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:84871600-84873000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr7:84871600-84873600	Enhancers	Primary hematopoietic stem cells	blood
33	chr7:84871800-84872400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:84872200-84872800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:84872400-84872800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr7:84872400-84872800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:84872800-84873000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:84872800-84873400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:84873000-84879400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:84878600-84879400	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr7:84879200-84879400	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr7:84879200-84879600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr7:84879400-84879600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
44	chr7:84879400-84879600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr7:84879400-84879600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:84879400-84879600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:84879400-84879600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
48	chr7:84879400-84879600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:84879400-84879600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:84879400-84879600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell

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