Variant report

Variant	esv3386858
Chromosome Location	chr6:28085123-28085495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28085276..28086790-chr6:28319543..28321327,2	K562	blood:
2	chr6:28083562..28085258-chr6:28187886..28189759,2	K562	blood:
3	chr6:28083288..28085321-chr6:28091167..28093208,2	MCF-7	breast:
4	chr6:27861175..27863698-chr6:28083468..28086015,2	MCF-7	breast:
5	chr6:28082452..28085124-chr6:28366168..28368167,2	K562	blood:

Variant related genes	Relation type
ENSG00000158691	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000196812	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116830906	chr6:28085134-28085135	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs375878260	chr6:28085158-28085159	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs77975121	chr6:28085173-28085174	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs537739006	chr6:28085187-28085188	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs72851173	chr6:28085196-28085197	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs9468289	chr6:28085201-28085202	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565711721	chr6:28085202-28085203	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs377709196	chr6:28085204-28085205	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs553164801	chr6:28085205-28085206	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs536805394	chr6:28085215-28085216	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573389714	chr6:28085226-28085227	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs558726758	chr6:28085287-28085288	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs545233297	chr6:28085379-28085380	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371487861	chr6:28085385-28085386	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185232353	chr6:28085405-28085406	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189731892	chr6:28085489-28085490	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	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
Bipolar disorder	19114987	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28073200-28091400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:28073200-28091800	Weak transcription	Right Ventricle	heart
3	chr6:28073400-28088000	Weak transcription	NHLF	lung
4	chr6:28073400-28091200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:28073400-28091400	Weak transcription	NHDF-Ad	bronchial
6	chr6:28073400-28091800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:28073400-28091800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:28073400-28091800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:28073400-28092000	Weak transcription	Small Intestine	intestine
10	chr6:28073400-28092200	Weak transcription	Esophagus	oesophagus
11	chr6:28073400-28092200	Weak transcription	Gastric	stomach
12	chr6:28073400-28092200	Weak transcription	Pancreas	Pancrea
13	chr6:28073600-28091600	Weak transcription	Hela-S3	cervix
14	chr6:28073600-28091600	Weak transcription	NHEK	skin
15	chr6:28076400-28086000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:28077000-28092400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:28080000-28092000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:28080400-28091600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:28080800-28092000	Weak transcription	Fetal Intestine Small	intestine
20	chr6:28081200-28088400	Strong transcription	Adipose Nuclei	Adipose
21	chr6:28081200-28091600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:28081200-28091800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:28081400-28091600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:28081400-28091800	Weak transcription	Colonic Mucosa	Colon
25	chr6:28081600-28086600	Strong transcription	Primary T cells from cord blood	blood
26	chr6:28081600-28087200	Strong transcription	HSMMtube	muscle
27	chr6:28081600-28088600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:28081600-28088800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr6:28081600-28091800	Weak transcription	HMEC	breast
30	chr6:28081800-28089000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:28082000-28086200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr6:28082000-28088600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:28082000-28088800	Strong transcription	Fetal Thymus	thymus
34	chr6:28082000-28091000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:28082000-28091400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr6:28082000-28091600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr6:28082000-28092200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:28082200-28086600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:28082200-28088400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr6:28082200-28091000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:28082400-28088600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr6:28082400-28088600	Strong transcription	Fetal Muscle Leg	muscle
43	chr6:28082400-28088800	Strong transcription	Fetal Brain Female	brain
44	chr6:28082400-28089000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:28082400-28090000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:28082600-28087000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:28082600-28087000	Strong transcription	K562	blood
48	chr6:28082600-28088400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr6:28082600-28088600	Strong transcription	Primary hematopoietic stem cells	blood
50	chr6:28082600-28088600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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