Variant report

Variant	esv2761339
Chromosome Location	chr7:78162153-78176756
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	chr7:78130738..78132580-chr7:78161090..78163111,2	K562	blood:
2	chr7:78164180..78165869-chr7:78184636..78186568,2	MCF-7	breast:

Extended variants
information (count: 589 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:589 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10256955	chr7:78162153-78162154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545182040	chr7:78162205-78162206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542360040	chr7:78162232-78162233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371827779	chr7:78162264-78162265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565333944	chr7:78162285-78162286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527705758	chr7:78162311-78162312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149879953	chr7:78162321-78162322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567305793	chr7:78162327-78162328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530353032	chr7:78162330-78162331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550055868	chr7:78162336-78162337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200550736	chr7:78162341-78162342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575800011	chr7:78162352-78162353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58402375	chr7:78162384-78162385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539179987	chr7:78162395-78162396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557592538	chr7:78162419-78162420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139981011	chr7:78162420-78162421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533858706	chr7:78162431-78162432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143520696	chr7:78162450-78162451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368464575	chr7:78162459-78162460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564658725	chr7:78162478-78162479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192369733	chr7:78162577-78162578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542984639	chr7:78162604-78162605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556382627	chr7:78162629-78162630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576161068	chr7:78162674-78162675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112443006	chr7:78162678-78162679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146719884	chr7:78162679-78162680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565249442	chr7:78162706-78162707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140367013	chr7:78162727-78162728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184683864	chr7:78162744-78162745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142334793	chr7:78162790-78162791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189658739	chr7:78162873-78162874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73701604	chr7:78162883-78162884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs369243602	chr7:78162911-78162912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550068043	chr7:78162947-78162948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563956974	chr7:78162952-78162953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532615278	chr7:78162963-78162964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552773735	chr7:78162973-78162974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566121228	chr7:78163012-78163013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181410794	chr7:78163049-78163050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151275061	chr7:78163079-78163080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140431405	chr7:78163097-78163098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57556892	chr7:78163183-78163184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs150406566	chr7:78163200-78163201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533106314	chr7:78163228-78163229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369524600	chr7:78163248-78163249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538540335	chr7:78163249-78163250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558743276	chr7:78163250-78163251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2885563	chr7:78163301-78163302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs185797778	chr7:78163311-78163312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2885564	chr7:78163372-78163373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

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
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	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
Pancreatic cancer	17952125	CNVD
Williams-beuren syndrome	16826523	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	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
Cancer	20164919	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78157000-78172000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:78158800-78169200	Weak transcription	Aorta	Aorta
3	chr7:78158800-78172000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:78158800-78191000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:78160400-78164800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:78160400-78170200	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:78160400-78170600	Weak transcription	Brain Anterior Caudate	brain
8	chr7:78161400-78162200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:78161600-78162200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:78161800-78163800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:78162000-78163600	Weak transcription	Fetal Heart	heart
12	chr7:78162200-78164400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:78162200-78164800	Weak transcription	Fetal Brain Female	brain
14	chr7:78163600-78164000	Enhancers	Fetal Heart	heart
15	chr7:78164800-78165200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:78164800-78165200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr7:78169200-78170000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:78169600-78169800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:78169800-78172600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:78170000-78170800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:78170000-78172600	Enhancers	Brain Cingulate Gyrus	brain
22	chr7:78170200-78171000	Enhancers	Brain Angular Gyrus	brain
23	chr7:78170200-78173000	Enhancers	Brain Substantia Nigra	brain
24	chr7:78170200-78173200	Enhancers	Brain Hippocampus Middle	brain
25	chr7:78170400-78171200	Enhancers	Brain Germinal Matrix	brain
26	chr7:78170400-78171200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr7:78170600-78171200	Enhancers	Brain Anterior Caudate	brain
28	chr7:78170800-78171000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:78171000-78171800	Weak transcription	Brain Angular Gyrus	brain
30	chr7:78171000-78172000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:78171000-78173800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:78171200-78171600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:78171200-78171800	Weak transcription	Brain Anterior Caudate	brain
34	chr7:78171600-78172800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr7:78171800-78172200	Enhancers	Brain Angular Gyrus	brain
36	chr7:78171800-78173000	Enhancers	Brain Anterior Caudate	brain
37	chr7:78172000-78172200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:78172000-78172200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:78172000-78172200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:78172000-78172400	Enhancers	Fetal Heart	heart
41	chr7:78172000-78173000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:78172000-78173200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:78172200-78173800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:78172200-78183000	Weak transcription	Brain Angular Gyrus	brain
45	chr7:78172600-78173000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:78172600-78173800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:78172600-78176000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:78172800-78175600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:78173000-78176000	Weak transcription	Brain Anterior Caudate	brain
50	chr7:78173000-78178000	Weak transcription	Brain Substantia Nigra	brain

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