Variant report

Variant	esv3366870
Chromosome Location	chr7:12845589-12845772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12727055..12727630-chr7:12845268..12846026,2	NB4	blood:
2	chr7:12839996..12842956-chr7:12845077..12847690,3	K562	blood:
3	chr7:12729413..12731637-chr7:12843330..12845682,3	K562	blood:
4	chr7:12842993..12845876-chr7:12849067..12850592,2	K562	blood:
5	chr7:12844977..12847724-chr7:12851734..12854680,3	K562	blood:
6	chr7:12769404..12771505-chr7:12844117..12845724,2	K562	blood:

Variant related genes	Relation type
ENSG00000122644	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139855255	chr7:12845616-12845617	Weak transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs34031501	chr7:12845623-12845624	Weak transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs6460979	chr7:12845633-12845634	Weak transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs143205383	chr7:12845634-12845635	Weak transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs79722212	chr7:12845655-12845656	Weak transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376825889	chr7:12845673-12845674	Weak transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563251844	chr7:12845675-12845676	Weak transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548130764	chr7:12845712-12845713	Weak transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs62445814	chr7:12845766-12845767	Weak transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	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
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12839000-12845600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:12842600-12848800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:12842600-12849200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:12844800-12845600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:12844800-12845600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:12844800-12845600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:12844800-12845800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:12844800-12845800	Enhancers	Fetal Intestine Large	intestine
9	chr7:12844800-12846000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:12844800-12846000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:12844800-12846000	Enhancers	NHEK	skin
12	chr7:12844800-12846800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:12845000-12845800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:12845000-12845800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:12845000-12846000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:12845000-12846000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:12845000-12846400	Enhancers	HMEC	breast
18	chr7:12845200-12845600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:12845200-12845600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:12845200-12845600	Enhancers	Brain Hippocampus Middle	brain
21	chr7:12845200-12845800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:12845200-12845800	Enhancers	HepG2	liver
23	chr7:12845200-12845800	Genic enhancers	K562	blood
24	chr7:12845400-12845600	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr7:12845400-12845800	Enhancers	Hela-S3	cervix
26	chr7:12845600-12845800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr7:12845600-12846000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr7:12845600-12848800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:12845600-12849000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:12845600-12849000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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