Variant report

Variant	esv15709
Chromosome Location	chr6:29413527-29415648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:29410503..29413985-chr6:29414850..29417910,3	K562	blood:
2	chr6:29410503..29413985-chr6:29414850..29417910,3	K562	blood:
3	chr6:29412331..29413997-chr6:29418043..29420547,2	K562	blood:
4	chr6:29411902..29413831-chr6:29418034..29419543,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58855769	chr6:29413527-29413528	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs58774316	chr6:29413534-29413535	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs60194987	chr6:29413568-29413569	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147251524	chr6:29413569-29413570	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114917638	chr6:29413573-29413574	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542966649	chr6:29413586-29413587	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76896681	chr6:29413650-29413651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs16894921	chr6:29413675-29413676	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192708835	chr6:29413748-29413749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs16894923	chr6:29413779-29413780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs527852864	chr6:29413799-29413800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185668103	chr6:29413805-29413806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188996291	chr6:29413813-29413814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192937761	chr6:29413836-29413837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116678588	chr6:29413861-29413862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569933135	chr6:29413862-29413863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535868664	chr6:29413881-29413882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114205060	chr6:29413887-29413888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377678965	chr6:29413909-29413910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184434409	chr6:29413916-29413917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188698723	chr6:29413971-29413972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79925536	chr6:29413972-29413973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs16894927	chr6:29413976-29413977	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139708034	chr6:29414043-29414044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542623818	chr6:29414067-29414068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181126433	chr6:29414071-29414072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553680114	chr6:29414107-29414108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114033335	chr6:29414119-29414120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373728106	chr6:29414181-29414182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564662671	chr6:29414237-29414238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141464765	chr6:29414262-29414263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533602249	chr6:29414276-29414277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7738722	chr6:29414286-29414287	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184115195	chr6:29414295-29414296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7738736	chr6:29414318-29414319	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7738742	chr6:29414346-29414347	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148558936	chr6:29414372-29414373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189351481	chr6:29414394-29414395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115880274	chr6:29414407-29414408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116362599	chr6:29414412-29414413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180816033	chr6:29414448-29414449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371775532	chr6:29414520-29414521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187360834	chr6:29414568-29414569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7739243	chr6:29414613-29414614	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs553003820	chr6:29414621-29414622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142924843	chr6:29414645-29414646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192153960	chr6:29414650-29414651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112696234	chr6:29414689-29414690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578088369	chr6:29414703-29414704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185683861	chr6:29414728-29414729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29412600-29414400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:29413200-29414200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:29413400-29413600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:29413400-29413600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:29413400-29415600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:29413600-29414600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:29414000-29414200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:29414200-29415200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:29414200-29415400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr6:29414200-29416000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:29414200-29418000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:29414400-29415400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr6:29414600-29415000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:29414600-29415400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr6:29414600-29415600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:29415000-29415200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:29415000-29415400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr6:29415000-29415600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:29415000-29415600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:29415000-29415800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:29415200-29415600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:29415200-29415600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr6:29415200-29415600	Enhancers	NHEK	skin
24	chr6:29415200-29416200	Enhancers	HMEC	breast
25	chr6:29415600-29418800	Weak transcription	NHEK	skin

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