Variant report

Variant	esv3416936
Chromosome Location	chr6:34012096-34012715
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	chr6:34011747..34013677-chr6:34019752..34021828,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557021022	chr6:34012103-34012104	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs201121660	chr6:34012139-34012140	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs368038250	chr6:34012140-34012141	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs575485340	chr6:34012148-34012149	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs199557202	chr6:34012150-34012151	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs540171375	chr6:34012151-34012152	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs543488157	chr6:34012154-34012155	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs371862479	chr6:34012160-34012161	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs201890004	chr6:34012170-34012171	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs180847903	chr6:34012174-34012175	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs200702450	chr6:34012177-34012178	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs200776818	chr6:34012197-34012198	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs368048670	chr6:34012232-34012233	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs544677432	chr6:34012241-34012242	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs146589771	chr6:34012242-34012243	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs144714025	chr6:34012243-34012244	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs111066522	chr6:34012280-34012281	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs145283448	chr6:34012283-34012284	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs200526245	chr6:34012290-34012291	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs13194723	chr6:34012295-34012296	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs199626410	chr6:34012319-34012320	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs201917738	chr6:34012320-34012321	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs200108026	chr6:34012328-34012329	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs375945454	chr6:34012329-34012330	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs541505991	chr6:34012334-34012335	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs559999933	chr6:34012364-34012365	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs541707728	chr6:34012374-34012375	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs200096374	chr6:34012406-34012407	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs141185968	chr6:34012407-34012408	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs370590733	chr6:34012408-34012409	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs201496365	chr6:34012409-34012410	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs570292129	chr6:34012410-34012411	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs553678994	chr6:34012412-34012413	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs531217388	chr6:34012420-34012421	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs373543483	chr6:34012422-34012423	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs376434809	chr6:34012424-34012425	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs551782243	chr6:34012427-34012428	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs555808028	chr6:34012449-34012450	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs375788064	chr6:34012452-34012453	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs201286911	chr6:34012480-34012481	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs201274060	chr6:34012498-34012499	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs369553415	chr6:34012500-34012501	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs149504429	chr6:34012504-34012505	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs372467679	chr6:34012505-34012506	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs372687235	chr6:34012506-34012507	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs138529365	chr6:34012507-34012508	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs376496612	chr6:34012526-34012527	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs369741174	chr6:34012534-34012535	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs534426759	chr6:34012536-34012537	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs202177342	chr6:34012550-34012551	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33984400-34023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:33988000-34013600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:33994400-34013000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:34000200-34016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:34002800-34027000	Weak transcription	Spleen	Spleen
6	chr6:34004000-34013400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:34004200-34013400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:34004400-34013400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:34010400-34013000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:34010400-34013000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:34010400-34013400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:34011600-34013600	Weak transcription	Brain Anterior Caudate	brain
13	chr6:34012000-34012800	Bivalent Enhancer	Fetal Brain Male	brain
14	chr6:34012000-34012800	Bivalent Enhancer	Fetal Kidney	kidney
15	chr6:34012400-34012600	Enhancers	Fetal Heart	heart
16	chr6:34012400-34013600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:34012600-34012800	Enhancers	Primary T cells from cord blood	blood
18	chr6:34012600-34013200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr6:34012600-34013400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:34012600-34013400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr6:34012600-34013600	Enhancers	Primary T cells fromperipheralblood	blood
22	chr6:34012600-34013600	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr6:34012600-34014400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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