Variant report

Variant	esv2761047
Chromosome Location	chr6:27296775-27303927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27258451..27260109-chr6:27301059..27302632,2	K562	blood:
2	chr6:27299766..27302375-chr6:27444830..27446395,2	K562	blood:
3	chr6:27287824..27293332-chr6:27295713..27302247,8	K562	blood:
4	chr6:27273015..27275740-chr6:27298464..27301159,2	K562	blood:
5	chr6:27291413..27293040-chr6:27299829..27302713,2	MCF-7	breast:
6	chr6:27264150..27266831-chr6:27300629..27302449,2	K562	blood:
7	chr6:27218055..27220276-chr6:27300325..27303096,3	K562	blood:
8	chr6:27300837..27303680-chr6:27307517..27309958,2	K562	blood:
9	chr6:27277495..27280431-chr6:27299498..27302391,2	K562	blood:
10	chr6:27299407..27301409-chr6:27341654..27343404,2	K562	blood:
11	chr6:27154842..27156986-chr6:27301919..27304257,2	K562	blood:
12	chr6:27298898..27303175-chr6:27340830..27343404,5	K562	blood:
13	chr6:27276791..27280576-chr6:27298923..27302888,5	K562	blood:
14	chr6:27303156..27306028-chr6:27355020..27356992,2	MCF-7	breast:
15	chr6:27298779..27303006-chr6:27440534..27442735,4	K562	blood:
16	chr6:27263999..27267440-chr6:27299677..27302604,5	K562	blood:
17	chr6:27271444..27273700-chr6:27295110..27297837,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000220758	chromatin interactions
ENSG00000112812	chromatin interactions
ENSG00000096654	chromatin interactions
ENSG00000124613	chromatin interactions
ENSG00000158553	chromatin interactions

Extended variants
information (count: 317 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17739310	chr6:27296775-27296776	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562471829	chr6:27296791-27296792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs113267369	chr6:27296811-27296812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147130283	chr6:27296820-27296821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548270506	chr6:27296884-27296885	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs144744748	chr6:27296894-27296895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533720066	chr6:27296895-27296896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs374508037	chr6:27296933-27296934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571112036	chr6:27296943-27296944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191708768	chr6:27297038-27297039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75114027	chr6:27297043-27297044	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576529336	chr6:27297186-27297187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs80216340	chr6:27297201-27297202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142973836	chr6:27297249-27297250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs151097417	chr6:27297252-27297253	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141036216	chr6:27297268-27297269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs560050334	chr6:27297278-27297279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74293979	chr6:27297292-27297293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545749728	chr6:27297353-27297354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574120958	chr6:27297389-27297390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562716925	chr6:27297392-27297393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181207677	chr6:27297401-27297402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149816155	chr6:27297426-27297427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373494757	chr6:27297519-27297520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115150682	chr6:27297539-27297540	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs79065545	chr6:27297654-27297655	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547398285	chr6:27297685-27297686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185862416	chr6:27297689-27297690	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530613422	chr6:27297756-27297757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs189836623	chr6:27297765-27297766	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs367689882	chr6:27297766-27297767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9461358	chr6:27297830-27297831	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs182332086	chr6:27297836-27297837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188636909	chr6:27297871-27297872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs9468068	chr6:27297875-27297876	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs370990733	chr6:27297904-27297905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs551251693	chr6:27297925-27297926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556950176	chr6:27298006-27298007	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs9393805	chr6:27298037-27298038	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs192381432	chr6:27298045-27298046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs184000508	chr6:27298103-27298104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs188590569	chr6:27298111-27298112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200007732	chr6:27298159-27298160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs9393806	chr6:27298174-27298175	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542033874	chr6:27298186-27298187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs9379976	chr6:27298200-27298201	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs548384250	chr6:27298246-27298247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs9379977	chr6:27298279-27298280	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs9393807	chr6:27298289-27298290	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567876572	chr6:27298295-27298296	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Hodgkin''s lymphoma	17606441	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
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

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27295200-27299000	Weak transcription	HepG2	liver
2	chr6:27298600-27299200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr6:27298600-27299400	Enhancers	K562	blood
4	chr6:27299000-27300600	Enhancers	HepG2	liver
5	chr6:27299200-27300400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:27299400-27300400	Weak transcription	K562	blood
7	chr6:27300200-27300400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr6:27300200-27303200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:27300200-27303400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:27300400-27300600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr6:27300400-27300600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:27300400-27300600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:27300400-27300600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:27300400-27300600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:27300400-27300600	Flanking Active TSS	K562	blood
16	chr6:27300400-27300800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:27300400-27300800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr6:27300400-27301000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
19	chr6:27300400-27301600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr6:27300400-27301600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:27300400-27301600	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr6:27300400-27301800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:27300400-27301800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:27300400-27302000	Active TSS	GM12878-XiMat	blood
25	chr6:27300400-27302400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr6:27300400-27303200	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr6:27300400-27303200	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr6:27300400-27303400	Active TSS	H1 Cell Line	embryonic stem cell
29	chr6:27300400-27303600	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr6:27300600-27300800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:27300600-27300800	Active TSS	Adipose Nuclei	Adipose
32	chr6:27300600-27300800	Enhancers	Brain Anterior Caudate	brain
33	chr6:27300600-27300800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
34	chr6:27300600-27301000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr6:27300600-27301000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:27300600-27301000	Bivalent Enhancer	Fetal Heart	heart
37	chr6:27300600-27301000	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr6:27300600-27301000	Active TSS	Right Atrium	heart
39	chr6:27300600-27301000	Flanking Active TSS	HepG2	liver
40	chr6:27300600-27301200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
41	chr6:27300600-27301200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
42	chr6:27300600-27301200	Enhancers	Pancreas	Pancrea
43	chr6:27300600-27301200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr6:27300600-27301400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:27300600-27301400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:27300600-27301400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
47	chr6:27300600-27301400	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
48	chr6:27300600-27301400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:27300600-27301400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:27300600-27301400	Active TSS	Ovary	ovary

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