Variant report

Variant	esv3404876
Chromosome Location	chr6:34940824-34943172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34940687..34943018-chr6:34944838..34946831,2	K562	blood:
2	chr6:34940870..34943018-chr6:34943935..34946831,3	K562	blood:
3	chr6:34858926..34861792-chr6:34939953..34942289,2	MCF-7	breast:
4	chr6:34927113..34929243-chr6:34940078..34941859,2	K562	blood:
5	chr6:34857055..34859091-chr6:34938202..34940889,2	MCF-7	breast:
6	chr6:34836775..34838347-chr6:34941205..34942985,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064999	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3800442	chr6:34940837-34940838	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541626828	chr6:34940846-34940847	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs36084406	chr6:34940893-34940894	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559497548	chr6:34940918-34940919	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574536038	chr6:34940925-34940926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9394262	chr6:34940940-34940941	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs3842138	chr6:34940957-34940958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184179134	chr6:34941014-34941015	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs56140217	chr6:34941018-34941019	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530409332	chr6:34941027-34941028	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189355419	chr6:34941045-34941046	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564219688	chr6:34941071-34941072	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528330821	chr6:34941080-34941081	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546349425	chr6:34941090-34941091	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565839771	chr6:34941109-34941110	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536322016	chr6:34941142-34941143	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146383984	chr6:34941226-34941227	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570068596	chr6:34941262-34941263	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9357191	chr6:34941263-34941264	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs373114414	chr6:34941264-34941265	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182291789	chr6:34941330-34941331	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187380071	chr6:34941344-34941345	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528900758	chr6:34941347-34941348	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541980626	chr6:34941357-34941358	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563214070	chr6:34941375-34941376	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139717440	chr6:34941415-34941416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190894821	chr6:34941423-34941424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564416314	chr6:34941456-34941457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77494753	chr6:34941477-34941478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117110790	chr6:34941483-34941484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546410954	chr6:34941533-34941534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561514301	chr6:34941542-34941543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76834635	chr6:34941567-34941568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200352272	chr6:34941630-34941631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200930726	chr6:34941635-34941636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150685314	chr6:34941638-34941639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111876002	chr6:34941653-34941654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150023946	chr6:34941664-34941665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568869452	chr6:34941708-34941709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537997243	chr6:34941711-34941712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558025424	chr6:34941725-34941726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571551007	chr6:34941728-34941729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200210012	chr6:34941819-34941820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370478692	chr6:34941846-34941847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369072054	chr6:34941883-34941884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554131748	chr6:34941985-34941986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28666064	chr6:34942065-34942066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375328230	chr6:34942072-34942073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13211316	chr6:34942082-34942083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71542493	chr6:34942090-34942091	Weak transcription	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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34895800-34949200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:34920400-34958600	Weak transcription	Colonic Mucosa	Colon
3	chr6:34921200-34949400	Weak transcription	Esophagus	oesophagus
4	chr6:34921600-34949400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:34922000-34953800	Weak transcription	Hela-S3	cervix
6	chr6:34922800-34950200	Weak transcription	Brain Germinal Matrix	brain
7	chr6:34925600-34984800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:34926800-34992200	Weak transcription	Small Intestine	intestine
9	chr6:34927200-34952200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:34928400-34949400	Weak transcription	Pancreas	Pancrea
11	chr6:34929400-34963400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:34929800-34953800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr6:34931600-34954800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:34932400-34949200	Weak transcription	Right Atrium	heart
15	chr6:34932400-34981800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:34932800-34962400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:34933000-34949400	Weak transcription	HSMM	muscle
18	chr6:34933000-34952600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:34935200-34947000	Weak transcription	Fetal Heart	heart
20	chr6:34935200-34950400	Weak transcription	Right Ventricle	heart
21	chr6:34935200-34954800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr6:34935200-34958800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:34937200-34941000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr6:34937200-34941200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr6:34937400-34941200	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:34937400-34941200	Strong transcription	Primary B cells from cord blood	blood
27	chr6:34937400-34941200	Strong transcription	Duodenum Mucosa	Duodenum
28	chr6:34937400-34941200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:34937600-34941200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:34937600-34941200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:34937600-34941200	Strong transcription	Adipose Nuclei	Adipose
32	chr6:34937600-34941200	Strong transcription	Liver	Liver
33	chr6:34937600-34941200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr6:34937600-34941400	Strong transcription	Placenta	Placenta
35	chr6:34937600-34941600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:34937800-34941200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:34937800-34941200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:34937800-34941200	Strong transcription	Lung	lung
39	chr6:34937800-34941400	Strong transcription	Colon Smooth Muscle	Colon
40	chr6:34938000-34949200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:34938200-34949000	Weak transcription	K562	blood
42	chr6:34938400-34949200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:34938400-34949200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:34938400-34949400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr6:34938400-34949400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:34938400-34949400	Weak transcription	Dnd41	blood
47	chr6:34938400-34949600	Weak transcription	Brain Angular Gyrus	brain
48	chr6:34938400-34949600	Weak transcription	Fetal Lung	lung
49	chr6:34938400-34954800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr6:34938600-34949000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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