Variant report

Variant	esv3325495
Chromosome Location	chr7:69268524-69269108
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	chr7:69265403..69267414-chr7:69267477..69269230,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397690911	chr7:69268524-69268525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138702108	chr7:69268545-69268546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564921871	chr7:69268583-69268584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532200739	chr7:69268584-69268585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541139331	chr7:69268646-69268647	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559250864	chr7:69268653-69268654	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs573923991	chr7:69268661-69268662	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs529873426	chr7:69268666-69268667	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs548116510	chr7:69268697-69268698	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs569921788	chr7:69268768-69268769	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs530760121	chr7:69268806-69268807	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs552104474	chr7:69268837-69268838	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs371171421	chr7:69268952-69268953	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs6460529	chr7:69268960-69268961	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534759155	chr7:69268981-69268982	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553453896	chr7:69269003-69269004	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs191924017	chr7:69269029-69269030	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs73170895	chr7:69269035-69269036	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557313435	chr7:69269045-69269046	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs182898042	chr7:69269064-69269065	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Basal cell lymphoma	21115979	CNVD
Glioma	20126413	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69249800-69269600	Weak transcription	Brain Angular Gyrus	brain
2	chr7:69253400-69278800	Weak transcription	Fetal Stomach	stomach
3	chr7:69255000-69276600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:69259000-69269200	Weak transcription	Fetal Brain Male	brain
5	chr7:69264400-69268800	Enhancers	Fetal Intestine Small	intestine
6	chr7:69264600-69268800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr7:69265000-69270400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:69265800-69268800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:69265800-69269600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:69265800-69269600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:69265800-69273000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:69265800-69273600	Weak transcription	HSMMtube	muscle
13	chr7:69265800-69282600	Weak transcription	Pancreas	Pancrea
14	chr7:69266000-69270000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:69266000-69270000	Weak transcription	Fetal Lung	lung
16	chr7:69266000-69270600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:69266200-69276600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:69267000-69269800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:69267200-69269600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:69267200-69272600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:69267200-69272600	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:69267200-69275000	Weak transcription	Psoas Muscle	Psoas
23	chr7:69267200-69278400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:69267400-69268600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:69267600-69268600	Weak transcription	Placenta	Placenta
26	chr7:69267600-69277200	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:69267800-69279200	Weak transcription	Ovary	ovary
28	chr7:69268200-69268600	Enhancers	GM12878-XiMat	blood
29	chr7:69268200-69269200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:69268200-69272800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:69268200-69278000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:69268400-69268600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:69268400-69269400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:69268400-69269600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:69268400-69269800	Weak transcription	Fetal Intestine Large	intestine
36	chr7:69268400-69278200	Weak transcription	Right Atrium	heart
37	chr7:69268600-69268800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:69268600-69268800	Enhancers	Placenta	Placenta
39	chr7:69268600-69268800	Flanking Active TSS	GM12878-XiMat	blood
40	chr7:69268600-69270200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr7:69268800-69269000	Enhancers	Primary B cells from peripheral blood	blood
42	chr7:69268800-69269000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:69268800-69269600	Active TSS	GM12878-XiMat	blood
44	chr7:69268800-69269800	Weak transcription	Fetal Intestine Small	intestine
45	chr7:69268800-69270600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:69269000-69269400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr7:69269000-69272400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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