Variant report

Variant	esv2422379
Chromosome Location	chr6:67222214-67314495
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	chr6:67240333..67242472-chrX:106418338..106419890,2	MCF-7	breast:
2	chr6:67131208..67132075-chr6:67244695..67245464,3	MCF-7	breast:

Extended variants
information (count: 618 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558649941	chr6:67224413-67224414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558184663	chr6:67224503-67224504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547919285	chr6:67224518-67224519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376600467	chr6:67224526-67224527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578112521	chr6:67224531-67224532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114356460	chr6:67224569-67224570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553173551	chr6:67224577-67224578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575744388	chr6:67224599-67224600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114078796	chr6:67224612-67224613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562062599	chr6:67224640-67224641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575452494	chr6:67224652-67224653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189641249	chr6:67224687-67224688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563756419	chr6:67224730-67224731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532838375	chr6:67224736-67224737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546318818	chr6:67224833-67224834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67536414	chr6:67224834-67224835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140854022	chr6:67224843-67224844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs398110217	chr6:67224851-67224852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113953065	chr6:67224852-67224853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560508480	chr6:67224859-67224860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529534398	chr6:67224874-67224875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181694774	chr6:67224937-67224938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569485312	chr6:67225008-67225009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139493522	chr6:67225027-67225028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199963845	chr6:67225029-67225030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4031523	chr6:67225030-67225031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs70981244	chr6:67225052-67225053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150252600	chr6:67225077-67225078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185182135	chr6:67225095-67225096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558186709	chr6:67225132-67225133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564591163	chr6:67225136-67225137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533201016	chr6:67225140-67225141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77053133	chr6:67225193-67225194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537758283	chr6:67225204-67225205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534263509	chr6:67225246-67225247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554342260	chr6:67225266-67225267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566539835	chr6:67225277-67225278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190472141	chr6:67225319-67225320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116640899	chr6:67225343-67225344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575463095	chr6:67225378-67225379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368703757	chr6:67225416-67225417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574220799	chr6:67225419-67225420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541256027	chr6:67225424-67225425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376320142	chr6:67225445-67225446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140634249	chr6:67225451-67225452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560242626	chr6:67225468-67225469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62417315	chr6:67225475-67225476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs543164694	chr6:67225516-67225517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545460996	chr6:67225533-67225534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374019304	chr6:67225539-67225540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67224400-67224800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr6:67224800-67228200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:67228200-67229200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:67228200-67229200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:67228400-67228800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:67228400-67229200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:67243200-67244400	Enhancers	Primary hematopoietic stem cells	blood
8	chr6:67243200-67244400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:67244400-67247400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:67244600-67246000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:67245400-67246600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr6:67245600-67245800	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:67245600-67246200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:67245600-67246800	Enhancers	Brain Germinal Matrix	brain
15	chr6:67246600-67248400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:67246800-67248800	Weak transcription	Brain Germinal Matrix	brain
17	chr6:67247400-67248200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:67248000-67249000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:67248200-67248800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:67248400-67249200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr6:67248400-67249200	Enhancers	Brain Hippocampus Middle	brain
22	chr6:67248400-67249200	Enhancers	Brain Substantia Nigra	brain
23	chr6:67248600-67249000	Enhancers	Fetal Lung	lung
24	chr6:67248800-67249000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:67248800-67249200	Enhancers	Brain Germinal Matrix	brain
26	chr6:67266200-67266600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:67272800-67273200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:67273200-67273800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:67273600-67273800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:67281200-67281800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:67310200-67311600	Enhancers	NHEK	skin
32	chr6:67310200-67311800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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