Variant report

Variant	esv3472472
Chromosome Location	chr6:34316747-34319852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34314465..34317126-chr6:34317621..34320996,4	K562	blood:
2	chr6:34299992..34302647-chr6:34315891..34318733,2	MCF-7	breast:
3	chr6:34318109..34321086-chr6:34360029..34361626,2	MCF-7	breast:
4	chr6:34305147..34308643-chr6:34314207..34316952,4	K562	blood:
5	chr6:34311894..34313491-chr6:34319028..34320786,2	K562	blood:
6	chr6:34314465..34317126-chr6:34317621..34320996,4	K562	blood:
7	chr6:34303886..34306765-chr6:34314497..34316952,3	K562	blood:

Variant related genes	Relation type
ENSG00000272325	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568696824	chr6:34316781-34316782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184518712	chr6:34316827-34316828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375922258	chr6:34316832-34316833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535813508	chr6:34316852-34316853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149292450	chr6:34316866-34316867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573689805	chr6:34316930-34316931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544162354	chr6:34316937-34316938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76172883	chr6:34316949-34316950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555764730	chr6:34316951-34316952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545290539	chr6:34316967-34316968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560712667	chr6:34317021-34317022	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575687519	chr6:34317058-34317059	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs528021169	chr6:34317061-34317062	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs143793284	chr6:34317072-34317073	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs187787708	chr6:34317099-34317100	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs191140980	chr6:34317129-34317130	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs531335285	chr6:34317147-34317148	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs146253870	chr6:34317154-34317155	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs571379212	chr6:34317181-34317182	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs183694195	chr6:34317192-34317193	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs188458361	chr6:34317198-34317199	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531304543	chr6:34317209-34317210	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs572204768	chr6:34317218-34317219	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs139614851	chr6:34317229-34317230	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs181541013	chr6:34317250-34317251	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs377004514	chr6:34317260-34317261	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs548209610	chr6:34317277-34317278	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs554453654	chr6:34317283-34317284	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs75029026	chr6:34317348-34317349	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs544223370	chr6:34317358-34317359	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs556105576	chr6:34317375-34317376	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs142903783	chr6:34317393-34317394	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545479538	chr6:34317406-34317407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560560958	chr6:34317414-34317415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527893417	chr6:34317419-34317420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543194002	chr6:34317561-34317562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561589912	chr6:34317588-34317589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532006804	chr6:34317595-34317596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146093742	chr6:34317604-34317605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148707433	chr6:34317605-34317606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532155982	chr6:34317606-34317607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547460647	chr6:34317630-34317631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568119709	chr6:34317675-34317676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376722211	chr6:34317691-34317692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370452200	chr6:34317692-34317693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536453159	chr6:34317724-34317725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373896155	chr6:34317742-34317743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569631618	chr6:34317815-34317816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536934639	chr6:34317822-34317823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556183154	chr6:34317844-34317845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34261800-34330800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:34285200-34330600	Weak transcription	Thymus	Thymus
3	chr6:34285800-34326600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:34289000-34325200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:34298600-34326400	Weak transcription	A549	lung
6	chr6:34301600-34318000	Weak transcription	Fetal Brain Female	brain
7	chr6:34306000-34327800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:34306000-34328800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr6:34307000-34320000	Weak transcription	Ovary	ovary
10	chr6:34308800-34330800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:34309200-34318200	Weak transcription	Fetal Lung	lung
12	chr6:34309400-34317200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:34309400-34317800	Weak transcription	Brain Germinal Matrix	brain
14	chr6:34309600-34317200	Weak transcription	NHDF-Ad	bronchial
15	chr6:34309600-34319800	Weak transcription	Small Intestine	intestine
16	chr6:34309600-34329200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr6:34309800-34316800	Weak transcription	Osteobl	bone
18	chr6:34309800-34317000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:34309800-34317000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:34309800-34317200	Weak transcription	HSMM	muscle
21	chr6:34309800-34318000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:34309800-34318000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:34309800-34318000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:34309800-34318000	Weak transcription	Fetal Intestine Small	intestine
25	chr6:34309800-34318600	Weak transcription	HMEC	breast
26	chr6:34309800-34320000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:34309800-34320000	Weak transcription	Pancreas	Pancrea
28	chr6:34309800-34320200	Weak transcription	HepG2	liver
29	chr6:34309800-34321400	Weak transcription	Lung	lung
30	chr6:34309800-34327000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr6:34309800-34329800	Weak transcription	Fetal Thymus	thymus
32	chr6:34309800-34330800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:34309800-34337600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:34309800-34347200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:34310000-34317000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:34310000-34318000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr6:34310000-34320200	Weak transcription	Fetal Stomach	stomach
38	chr6:34310000-34330600	Weak transcription	Dnd41	blood
39	chr6:34310200-34318000	Weak transcription	Liver	Liver
40	chr6:34310200-34318000	Weak transcription	Fetal Muscle Leg	muscle
41	chr6:34310200-34318000	Weak transcription	NHLF	lung
42	chr6:34310200-34318200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:34310400-34318000	Weak transcription	Colon Smooth Muscle	Colon
44	chr6:34310400-34320000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:34310400-34321600	Weak transcription	Right Ventricle	heart
46	chr6:34310400-34329200	Weak transcription	Brain Angular Gyrus	brain
47	chr6:34310600-34317200	Weak transcription	Fetal Heart	heart
48	chr6:34310600-34320000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:34310600-34326400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr6:34310800-34318000	Weak transcription	Brain Substantia Nigra	brain

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