Variant report

Variant	esv3414399
Chromosome Location	chr6:31112153-31112666
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:31107129..31110169-chr6:31111741..31115408,4	K562	blood:
2	chr6:31107022..31110169-chr6:31112293..31115408,4	K562	blood:
3	chr6:30788219..30790360-chr6:31110500..31112207,2	MCF-7	breast:
4	chr6:31112475..31116177-chr6:31122128..31126125,5	K562	blood:

Variant related genes	Relation type
ENSG00000204536	chromatin interactions
ENSG00000204538	chromatin interactions
ENSG00000238211	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563506322	chr6:31112155-31112156	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144803964	chr6:31112168-31112169	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs9263741	chr6:31112213-31112214	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187050705	chr6:31112253-31112254	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528494790	chr6:31112260-31112261	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546611147	chr6:31112288-31112289	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192786913	chr6:31112317-31112318	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs184243487	chr6:31112347-31112348	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs11967883	chr6:31112354-31112355	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs374370674	chr6:31112442-31112443	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs148996044	chr6:31112457-31112458	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs377287953	chr6:31112464-31112465	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs569483334	chr6:31112470-31112471	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs539737656	chr6:31112471-31112472	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs369736374	chr6:31112476-31112477	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs199615077	chr6:31112482-31112483	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs130072	chr6:31112484-31112485	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs576883267	chr6:31112485-31112486	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs534568941	chr6:31112489-31112490	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs200316417	chr6:31112517-31112518	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs111409280	chr6:31112526-31112527	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs202129359	chr6:31112532-31112533	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs137961326	chr6:31112559-31112560	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs372842578	chr6:31112584-31112585	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs190832200	chr6:31112585-31112586	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs532197348	chr6:31112588-31112589	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs1265078	chr6:31112602-31112603	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs369194135	chr6:31112612-31112613	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs377556857	chr6:31112645-31112646	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	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
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
Ovarian cancer	21781307	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
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	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
Renal cell carcinoma	18765545	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
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	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
Breast cancer	21364760	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
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31105600-31124400	Weak transcription	Fetal Kidney	kidney
2	chr6:31105600-31124800	Weak transcription	Small Intestine	intestine
3	chr6:31105800-31117000	Weak transcription	Brain Substantia Nigra	brain
4	chr6:31105800-31117200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:31105800-31117800	Weak transcription	Primary B cells from cord blood	blood
6	chr6:31105800-31121800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:31105800-31122600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:31105800-31124400	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:31105800-31124800	Weak transcription	Hela-S3	cervix
10	chr6:31105800-31125200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:31106000-31112800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr6:31106000-31125000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr6:31106000-31125000	Weak transcription	Fetal Brain Male	brain
14	chr6:31106000-31125200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:31107600-31112400	Weak transcription	Lung	lung
16	chr6:31107600-31112400	Weak transcription	Ovary	ovary
17	chr6:31107600-31125000	Weak transcription	NHDF-Ad	bronchial
18	chr6:31107800-31112600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:31107800-31117200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:31107800-31125000	Weak transcription	Fetal Heart	heart
21	chr6:31108000-31116200	Weak transcription	Esophagus	oesophagus
22	chr6:31109600-31112200	Strong transcription	Fetal Intestine Small	intestine
23	chr6:31109600-31113800	Strong transcription	Thymus	Thymus
24	chr6:31109800-31113800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:31109800-31113800	Strong transcription	Liver	Liver
26	chr6:31109800-31113800	Strong transcription	Dnd41	blood
27	chr6:31109800-31114400	Strong transcription	Brain Germinal Matrix	brain
28	chr6:31109800-31114800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:31110000-31124600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:31110200-31112800	Enhancers	Stomach Mucosa	stomach
31	chr6:31110200-31113000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:31110200-31113400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr6:31110200-31113400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:31110200-31113400	Strong transcription	Fetal Intestine Large	intestine
35	chr6:31110200-31113800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:31110200-31114000	Strong transcription	Fetal Thymus	thymus
37	chr6:31110200-31114200	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr6:31110200-31114200	Strong transcription	Brain Hippocampus Middle	brain
39	chr6:31110200-31114600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:31110200-31114600	Strong transcription	Brain Anterior Caudate	brain
41	chr6:31110200-31114800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:31110200-31117200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:31110200-31125000	Weak transcription	A549	lung
44	chr6:31110400-31113000	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr6:31110400-31113200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:31110400-31113400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr6:31110400-31113600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:31110400-31113600	Strong transcription	Pancreas	Pancrea
49	chr6:31110400-31113800	Strong transcription	Fetal Lung	lung
50	chr6:31110400-31114000	Strong transcription	Primary T cells from cord blood	blood

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