Variant report

Variant	esv3475107
Chromosome Location	chr6:13834840-13863839
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:13613302..13615771-chr6:13846767..13849432,2	K562	blood:
2	chr6:13842487..13845417-chr6:14141526..14144091,2	K562	blood:
3	chr6:13857452..13859604-chr6:13860970..13863595,2	K562	blood:
4	chr6:13849255..13851756-chr6:13872753..13875703,2	K562	blood:
5	chr6:13852875..13856749-chr6:13858134..13861261,5	K562	blood:
6	chr6:13852047..13854247-chr6:13855833..13857845,2	K562	blood:
7	chr6:13847132..13848813-chr6:13858201..13861162,2	K562	blood:
8	chr6:13852875..13854622-chr6:13856529..13860893,3	K562	blood:
9	chr6:13812222..13814493-chr6:13862660..13864603,2	MCF-7	breast:
10	chr6:13857452..13859604-chr6:13860970..13863595,2	K562	blood:
11	chr6:13837585..13839319-chr6:13852270..13854306,2	K562	blood:
12	chr6:13852875..13856749-chr6:13858134..13861261,5	K562	blood:
13	chr6:13852047..13854247-chr6:13855833..13857845,2	K562	blood:
14	chr6:13842934..13845846-chr6:13848845..13850430,2	MCF-7	breast:
15	chr6:13837585..13839319-chr6:13852270..13854306,2	K562	blood:
16	chr6:13842934..13845846-chr6:13848845..13850430,2	MCF-7	breast:
17	chr6:13812016..13814897-chr6:13848810..13851952,3	K562	blood:
18	chr6:13862519..13866858-chr6:13869223..13874616,6	K562	blood:
19	chr6:13813681..13815671-chr6:13847740..13850673,3	MCF-7	breast:
20	chr6:13852220..13855025-chr6:13864513..13866779,2	MCF-7	breast:
21	chr6:13813979..13816007-chr6:13839399..13841859,3	MCF-7	breast:
22	chr5:180671481..180673420-chr6:13833719..13835985,2	MCF-7	breast:
23	chr6:13847132..13848813-chr6:13858201..13861162,2	K562	blood:
24	chr6:13852875..13854622-chr6:13856529..13860893,3	K562	blood:
25	chr6:13847131..13847657-chr6:13873693..13874291,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225921	chromatin interactions
ENSG00000261071	chromatin interactions
ENSG00000050393	chromatin interactions

Extended variants
information (count: 1926 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1926 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565201336	chr6:13834843-13834844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192717058	chr6:13834861-13834862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2019173	chr6:13834932-13834933	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs2019174	chr6:13834944-13834945	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561517175	chr6:13834963-13834964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202084718	chr6:13834982-13834983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374747091	chr6:13834983-13834984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386697301	chr6:13834985-13834986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2019178	chr6:13834986-13834987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2019179	chr6:13834989-13834990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532498180	chr6:13835038-13835039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184721414	chr6:13835041-13835042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571538630	chr6:13835057-13835058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377385455	chr6:13835064-13835065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371218485	chr6:13835070-13835071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574822294	chr6:13835085-13835086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553450426	chr6:13835106-13835107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74532192	chr6:13835121-13835122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116401519	chr6:13835126-13835127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9464394	chr6:13835131-13835132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146250239	chr6:13835136-13835137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200344607	chr6:13835140-13835141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115051900	chr6:13835166-13835167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189541360	chr6:13835167-13835168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181714464	chr6:13835171-13835172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140059265	chr6:13835173-13835174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571743349	chr6:13835191-13835192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576473408	chr6:13835225-13835226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561472708	chr6:13835226-13835227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185793564	chr6:13835229-13835230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189467858	chr6:13835242-13835243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563769225	chr6:13835250-13835251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532676417	chr6:13835253-13835254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs60718046	chr6:13835291-13835292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149380455	chr6:13835292-13835293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548575966	chr6:13835307-13835308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144654866	chr6:13835323-13835324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528537511	chr6:13835376-13835377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148507347	chr6:13835403-13835404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142836211	chr6:13835429-13835430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147741623	chr6:13835449-13835450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141050095	chr6:13835491-13835492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569857603	chr6:13835592-13835593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538330713	chr6:13835605-13835606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558271068	chr6:13835618-13835619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181784175	chr6:13835639-13835640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534320076	chr6:13835645-13835646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555205310	chr6:13835646-13835647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185955979	chr6:13835647-13835648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575048963	chr6:13835649-13835650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13834200-13835000	Weak transcription	GM12878-XiMat	blood
2	chr6:13834800-13835400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:13835000-13835200	Enhancers	K562	blood
4	chr6:13835000-13835400	Enhancers	GM12878-XiMat	blood
5	chr6:13835000-13836000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:13835000-13836200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:13835400-13836400	Weak transcription	K562	blood
8	chr6:13835400-13836600	Weak transcription	GM12878-XiMat	blood
9	chr6:13836400-13837800	Enhancers	K562	blood
10	chr6:13836600-13836800	Enhancers	Fetal Thymus	thymus
11	chr6:13836600-13837000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:13836600-13837000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr6:13836600-13837800	Enhancers	GM12878-XiMat	blood
14	chr6:13836800-13837000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr6:13837000-13838600	Weak transcription	Fetal Thymus	thymus
16	chr6:13837000-13841600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:13837000-13841800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:13837200-13837600	Enhancers	Primary hematopoietic stem cells	blood
19	chr6:13837800-13838200	Weak transcription	K562	blood
20	chr6:13838200-13839600	Enhancers	K562	blood
21	chr6:13838600-13839200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr6:13838600-13839600	Enhancers	Fetal Intestine Large	intestine
23	chr6:13838600-13839800	Enhancers	Fetal Lung	lung
24	chr6:13838600-13840600	Enhancers	Fetal Thymus	thymus
25	chr6:13839000-13839400	Enhancers	Adipose Nuclei	Adipose
26	chr6:13839200-13839400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:13839200-13847200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:13839200-13847200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr6:13839400-13841600	Weak transcription	Adipose Nuclei	Adipose
30	chr6:13839600-13840800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:13839600-13841600	Weak transcription	K562	blood
32	chr6:13839800-13840400	Weak transcription	Fetal Lung	lung
33	chr6:13840400-13841000	Enhancers	Fetal Lung	lung
34	chr6:13840800-13842200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:13841000-13848800	Weak transcription	Fetal Lung	lung
36	chr6:13841400-13842400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:13841600-13841800	Enhancers	Adipose Nuclei	Adipose
38	chr6:13841600-13842200	Enhancers	HSMM	muscle
39	chr6:13841600-13842400	Enhancers	A549	lung
40	chr6:13841600-13842400	Bivalent Enhancer	HSMMtube	muscle
41	chr6:13841600-13842600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr6:13841600-13842600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:13841600-13842600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:13841600-13842800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:13841600-13842800	Enhancers	K562	blood
46	chr6:13841800-13842000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:13841800-13842000	Weak transcription	Adipose Nuclei	Adipose
48	chr6:13841800-13842200	Enhancers	Osteobl	bone
49	chr6:13841800-13842400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr6:13841800-13842400	Enhancers	HUES64 Cell Line	embryonic stem cell

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