Variant report

Variant	esv2421394
Chromosome Location	chr6:30462084-30463208
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30462887..30464887-chr6:30510637..30512164,2	MCF-7	breast:
2	chr6:30460538..30462346-chr6:30567342..30569437,2	K562	blood:
3	chr6:30462600..30464540-chr6:30524018..30525646,3	K562	blood:
4	chr6:30460254..30462498-chr6:30524034..30526480,3	K562	blood:
5	chr6:30461684..30464016-chr6:30583685..30585853,3	MCF-7	breast:
6	chr6:30455822..30466395-chr6:30579571..30587610,27	K562	blood:
7	chr6:30461133..30465546-chr6:30581311..30587610,6	K562	blood:
8	chr6:30461955..30465538-chr6:30528030..30531365,3	K562	blood:
9	chr6:30461226..30464873-chr6:30481916..30485904,6	K562	blood:
10	chr6:30462095..30464015-chr6:30511746..30514126,2	K562	blood:
11	chr6:30462726..30464403-chr6:30470965..30472955,2	MCF-7	breast:
12	chr6:30461885..30464563-chr6:30510233..30512351,2	MCF-7	breast:
13	chr6:30462680..30464741-chr6:30508231..30510118,2	MCF-7	breast:
14	chr6:30452366..30463564-chr6:30577885..30586736,19	MCF-7	breast:
15	chr6:30460308..30463504-chr6:30467880..30470145,3	K562	blood:
16	chr6:30461588..30464559-chr6:30482611..30484562,5	K562	blood:
17	chr6:30460032..30464090-chr6:30482705..30485397,3	MCF-7	breast:
18	chr6:30459180..30463504-chr6:30468325..30471829,5	K562	blood:
19	chr6:30462155..30464908-chr6:30512487..30514288,2	MCF-7	breast:
20	chr6:30461707..30464004-chr6:30498859..30501819,2	MCF-7	breast:
21	chr6:30461259..30465392-chr6:30522787..30524825,5	MCF-7	breast:
22	chr6:30461233..30466153-chr6:30523018..30526290,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235781	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000204590	chromatin interactions
ENSG00000204576	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000204568	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1264456	chr6:30462084-30462085	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190544600	chr6:30462095-30462096	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs561981031	chr6:30462096-30462097	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs567273612	chr6:30462110-30462111	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs17875374	chr6:30462114-30462115	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144125875	chr6:30462115-30462116	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs146520669	chr6:30462134-30462135	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs576740057	chr6:30462167-30462168	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs549591546	chr6:30462189-30462190	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs141186764	chr6:30462204-30462205	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs7751766	chr6:30462253-30462254	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548957264	chr6:30462290-30462291	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs374823626	chr6:30462332-30462333	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs569573915	chr6:30462380-30462381	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs182321851	chr6:30462385-30462386	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs151268719	chr6:30462417-30462418	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs577635676	chr6:30462494-30462495	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs538532226	chr6:30462583-30462584	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs540018126	chr6:30462597-30462598	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs567797023	chr6:30462621-30462622	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs556830524	chr6:30462658-30462659	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs576472891	chr6:30462659-30462660	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs374925174	chr6:30462822-30462823	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs140517744	chr6:30462887-30462888	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs562217201	chr6:30462944-30462945	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs150453792	chr6:30462949-30462950	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs541433538	chr6:30462953-30462954	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs369776996	chr6:30463104-30463105	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs370980971	chr6:30463127-30463128	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs549552899	chr6:30463137-30463138	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs28687231	chr6:30463168-30463169	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs28470746	chr6:30463174-30463175	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs375930282	chr6:30463186-30463187	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs9280991	chr6:30463199-30463200	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs386698772	chr6:30463200-30463201	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs369221038	chr6:30463204-30463205	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs373934389	chr6:30463205-30463206	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs369974210	chr6:30463208-30463209	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
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
Lung cancer	21569311	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

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30457200-30462200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
2	chr6:30457200-30462600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:30457400-30462400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
4	chr6:30457600-30462200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
5	chr6:30457600-30462400	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
6	chr6:30457600-30462400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
7	chr6:30457600-30462600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
8	chr6:30458000-30462600	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
9	chr6:30458600-30462200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:30458600-30462400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:30458600-30464200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:30458600-30465600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:30458600-30467400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:30458800-30462200	Strong transcription	HSMM	muscle
15	chr6:30459000-30462200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:30459000-30462200	Weak transcription	K562	blood
17	chr6:30459000-30462400	Strong transcription	Fetal Intestine Small	intestine
18	chr6:30459000-30462600	Weak transcription	Fetal Kidney	kidney
19	chr6:30459200-30462400	Strong transcription	Fetal Stomach	stomach
20	chr6:30459600-30462200	Strong transcription	Esophagus	oesophagus
21	chr6:30459600-30462200	Strong transcription	NHDF-Ad	bronchial
22	chr6:30459600-30464200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:30459800-30464000	Weak transcription	Hela-S3	cervix
24	chr6:30460200-30462200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:30460200-30462200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:30460200-30462200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:30460200-30462200	Strong transcription	Gastric	stomach
28	chr6:30460200-30462400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:30460200-30462400	Strong transcription	Colon Smooth Muscle	Colon
30	chr6:30460200-30462400	Strong transcription	NHLF	lung
31	chr6:30460200-30462600	Genic enhancers	Spleen	Spleen
32	chr6:30460200-30464400	Weak transcription	NH-A	brain
33	chr6:30460200-30468800	Weak transcription	HSMMtube	muscle
34	chr6:30460400-30462200	Genic enhancers	Primary monocytes fromperipheralblood	blood
35	chr6:30460400-30462200	Strong transcription	Liver	Liver
36	chr6:30460400-30462200	Genic enhancers	Fetal Thymus	thymus
37	chr6:30460400-30462400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:30460400-30462400	Strong transcription	Fetal Muscle Leg	muscle
39	chr6:30460400-30462400	Strong transcription	HUVEC	blood vessel
40	chr6:30460400-30463000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr6:30460600-30462200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:30460600-30462200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:30460600-30462400	Strong transcription	Thymus	Thymus
44	chr6:30460600-30462400	Genic enhancers	GM12878-XiMat	blood
45	chr6:30460600-30462600	Genic enhancers	Primary B cells from peripheral blood	blood
46	chr6:30460600-30462600	Genic enhancers	Primary hematopoietic stem cells	blood
47	chr6:30460600-30463200	Weak transcription	Aorta	Aorta
48	chr6:30460600-30464000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr6:30460600-30464000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr6:30460600-30464200	Weak transcription	Stomach Mucosa	stomach

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