Variant report

Variant	esv3488794
Chromosome Location	chr6:26342723-26352721
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26346422..26348741-chr6:26456867..26458564,3	K562	blood:
2	chr6:26340127..26342724-chr6:26570668..26572890,2	MCF-7	breast:
3	chr6:26342168..26345048-chr6:26509847..26512007,2	MCF-7	breast:
4	chr6:26339036..26342767-chr6:26596200..26598139,3	K562	blood:
5	chr6:26341150..26343678-chr6:26575652..26577197,2	K562	blood:
6	chr6:26340823..26342973-chr6:26490879..26493737,2	K562	blood:
7	chr6:26341541..26342734-chr6:26595701..26596713,9	K562	blood:
8	chr6:26352176..26356420-chr6:26519489..26524545,4	K562	blood:
9	chr6:26346737..26349010-chr6:26483438..26485200,2	K562	blood:
10	chr6:26345077..26347178-chr6:26389815..26392658,2	K562	blood:
11	chr1:17222072..17224236-chr6:26350716..26352236,2	K562	blood:
12	chr6:26350096..26351709-chr6:26521212..26523157,2	K562	blood:
13	chr6:26342125..26345094-chr6:26474079..26475850,2	K562	blood:
14	chr6:26342033..26344696-chr6:26521826..26523631,2	MCF-7	breast:
15	chr6:26351127..26352720-chr6:26382336..26385327,2	K562	blood:
16	chr6:26272455..26274796-chr6:26340559..26343243,3	MCF-7	breast:
17	chr6:26350529..26353058-chr6:26354416..26356563,2	K562	blood:
18	chr6:26343594..26345212-chr6:26474079..26475915,2	K562	blood:
19	chr6:26338579..26343405-chr6:26519686..26522615,5	K562	blood:
20	chr6:26340224..26344158-chr6:26569567..26573981,6	K562	blood:
21	chr1:17221559..17223078-chr6:26350716..26352216,2	MCF-7	breast:
22	chr6:26341478..26343917-chr6:26362438..26365038,2	K562	blood:
23	chr6:26345126..26347534-chr6:26601972..26604774,2	K562	blood:
24	chr6:26345080..26346941-chr6:26520838..26522730,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000218690	chromatin interactions
ENSG00000207005	chromatin interactions
ENSG00000168242	chromatin interactions
ENSG00000228223	chromatin interactions
ENSG00000112763	chromatin interactions
ENSG00000124508	chromatin interactions
ENSG00000199289	chromatin interactions
ENSG00000146109	chromatin interactions

Extended variants
information (count: 375 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4711107	chr6:26342749-26342750	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571176769	chr6:26342762-26342763	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs574260835	chr6:26342773-26342774	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs536794249	chr6:26342774-26342775	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs146593619	chr6:26342789-26342790	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs181460034	chr6:26342800-26342801	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs185850032	chr6:26342804-26342805	Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs553145897	chr6:26342813-26342814	Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs558623304	chr6:26342884-26342885	Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs576823195	chr6:26342901-26342902	Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs541035595	chr6:26342914-26342915	Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs12200825	chr6:26342922-26342923	Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs112691977	chr6:26342930-26342931	Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs191047826	chr6:26342960-26342961	Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs575567998	chr6:26342961-26342962	Active TSS Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs544579433	chr6:26343034-26343035	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs9379850	chr6:26343057-26343058	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs574985324	chr6:26343058-26343059	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs72836448	chr6:26343070-26343071	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs115552189	chr6:26343098-26343099	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs528255129	chr6:26343101-26343102	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs181793519	chr6:26343123-26343124	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs531128488	chr6:26343140-26343141	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs565140043	chr6:26343190-26343191	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs370046660	chr6:26343203-26343204	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs530433780	chr6:26343278-26343279	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs113972152	chr6:26343279-26343280	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs141310362	chr6:26343280-26343281	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs535920153	chr6:26343307-26343308	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs186401083	chr6:26343313-26343314	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs566965577	chr6:26343330-26343331	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs536892088	chr6:26343358-26343359	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs558999627	chr6:26343359-26343360	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs552447422	chr6:26343380-26343381	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs575888123	chr6:26343385-26343386	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs191206657	chr6:26343390-26343391	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs143660918	chr6:26343428-26343429	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs182946590	chr6:26343444-26343445	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs188795073	chr6:26343445-26343446	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs191040472	chr6:26343461-26343462	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572956460	chr6:26343494-26343495	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs146811344	chr6:26343536-26343537	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565073772	chr6:26343595-26343596	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183351509	chr6:26343605-26343606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553692749	chr6:26343611-26343612	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs78835954	chr6:26343649-26343650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs376927674	chr6:26343676-26343677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560529301	chr6:26343791-26343792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547046976	chr6:26343806-26343807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs370330728	chr6:26343810-26343811	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Multiple myeloma	17550852	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
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	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
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Autism	22495309	CNVD
Lung cancer	21569311	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	19100363	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26341400-26343000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr6:26341600-26342800	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr6:26341600-26342800	Flanking Active TSS	HepG2	liver
4	chr6:26341600-26343000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:26341600-26343200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:26341800-26342800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:26341800-26342800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:26341800-26342800	Flanking Active TSS	Dnd41	blood
9	chr6:26341800-26343000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr6:26341800-26343000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr6:26341800-26343000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr6:26342000-26342800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr6:26342000-26342800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:26342000-26342800	Weak transcription	Right Atrium	heart
15	chr6:26342200-26342800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr6:26342200-26342800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:26342200-26342800	Enhancers	HMEC	breast
18	chr6:26342200-26343600	Enhancers	NHEK	skin
19	chr6:26342400-26342800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:26342400-26343000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:26342400-26343200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr6:26342400-26343200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:26342400-26351800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:26342600-26342800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:26342600-26342800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr6:26342600-26342800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:26342600-26342800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:26342600-26342800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
29	chr6:26342600-26342800	Enhancers	Osteobl	bone
30	chr6:26342600-26343000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:26342600-26343000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:26342600-26343000	Enhancers	A549	lung
33	chr6:26342600-26343200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:26342600-26343200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr6:26342600-26343200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:26342600-26343200	Enhancers	K562	blood
37	chr6:26342600-26343200	Enhancers	NH-A	brain
38	chr6:26342600-26343400	Enhancers	GM12878-XiMat	blood
39	chr6:26342600-26343400	Enhancers	NHDF-Ad	bronchial
40	chr6:26342600-26343600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:26342600-26344000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:26342600-26350200	Weak transcription	Hela-S3	cervix
43	chr6:26342800-26343400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr6:26342800-26343400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:26342800-26343800	Enhancers	HepG2	liver
46	chr6:26342800-26348000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr6:26342800-26349800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:26343000-26343200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr6:26343000-26343200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:26343000-26343400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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