Variant report

Variant	esv1814339
Chromosome Location	chr6:1702106-1716710
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:1704437..1707209-chr6:1712553..1715727,3	MCF-7	breast:
2	chr6:1709833..1714241-chr6:1719630..1722826,3	MCF-7	breast:
3	chr6:1714828..1716630-chr6:1737875..1739669,2	MCF-7	breast:
4	chr6:1702313..1705686-chr6:1707242..1710657,4	K562	blood:
5	chr6:1706527..1710172-chr6:1711910..1715681,3	K562	blood:
6	chr6:1702313..1705686-chr6:1707242..1710657,4	K562	blood:
7	chr6:1602365..1603969-chr6:1707557..1710103,2	MCF-7	breast:
8	chr6:1708672..1711562-chr6:1713048..1715527,2	K562	blood:
9	chr6:1706527..1710172-chr6:1711910..1715681,3	K562	blood:
10	chr6:1704437..1707209-chr6:1712553..1715727,3	MCF-7	breast:
11	chr6:1708672..1711562-chr6:1713048..1715527,2	K562	blood:
12	chr6:1708677..1711111-chr6:1726818..1728968,2	K562	blood:

No data

Extended variants
information (count: 660 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9328066	chr6:1702106-1702107	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190078500	chr6:1702113-1702114	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs192410497	chr6:1702117-1702118	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs552687682	chr6:1702143-1702144	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs572572341	chr6:1702166-1702167	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs544626728	chr6:1702229-1702230	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs6927943	chr6:1702236-1702237	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141426125	chr6:1702265-1702266	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs9328067	chr6:1702269-1702270	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561419804	chr6:1702308-1702309	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs556501910	chr6:1702310-1702311	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs530344992	chr6:1702314-1702315	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs143580643	chr6:1702365-1702366	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560582103	chr6:1702393-1702394	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs576301373	chr6:1702422-1702423	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs34516806	chr6:1702423-1702424	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs148060767	chr6:1702467-1702468	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs116385894	chr6:1702487-1702488	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs74872526	chr6:1702515-1702516	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs550882794	chr6:1702538-1702539	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs567435774	chr6:1702614-1702615	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536060882	chr6:1702639-1702640	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552722450	chr6:1702645-1702646	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4478452	chr6:1702714-1702715	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139691969	chr6:1702715-1702716	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371423235	chr6:1702716-1702717	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540792886	chr6:1702793-1702794	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184951267	chr6:1702816-1702817	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs141611734	chr6:1702819-1702820	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs116299539	chr6:1702829-1702830	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs555277082	chr6:1702830-1702831	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs150097563	chr6:1702847-1702848	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs564067153	chr6:1702876-1702877	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs28542092	chr6:1702959-1702960	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs560619040	chr6:1702960-1702961	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs536282519	chr6:1703025-1703026	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs546358142	chr6:1703056-1703057	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs4959148	chr6:1703079-1703080	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs531767243	chr6:1703087-1703088	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs188103456	chr6:1703093-1703094	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs567576632	chr6:1703095-1703096	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs7745272	chr6:1703122-1703123	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs76753878	chr6:1703145-1703146	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs7745292	chr6:1703187-1703188	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs9378305	chr6:1703290-1703291	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs141691430	chr6:1703309-1703310	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs568843142	chr6:1703362-1703363	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs537862412	chr6:1703364-1703365	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs139657069	chr6:1703374-1703375	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs78641010	chr6:1703376-1703377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1679600-1715600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:1688600-1706400	Weak transcription	Gastric	stomach
3	chr6:1690000-1715000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:1690400-1703200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:1693600-1718200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:1693800-1708400	Weak transcription	Fetal Intestine Small	intestine
7	chr6:1694000-1709400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr6:1694200-1724400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:1695400-1729400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:1695800-1731400	Weak transcription	Fetal Intestine Large	intestine
11	chr6:1696200-1705600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:1696600-1702400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:1697000-1702400	Weak transcription	Aorta	Aorta
14	chr6:1699400-1703200	Weak transcription	Lung	lung
15	chr6:1699800-1709200	Weak transcription	Spleen	Spleen
16	chr6:1699800-1716600	Weak transcription	Primary T cells from cord blood	blood
17	chr6:1700000-1702400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:1700000-1703400	Enhancers	Fetal Muscle Leg	muscle
19	chr6:1700200-1702400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:1700200-1702400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr6:1700200-1702400	Enhancers	Osteobl	bone
22	chr6:1700400-1702800	Weak transcription	Right Atrium	heart
23	chr6:1700600-1702200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:1700600-1705800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:1700800-1702400	Enhancers	HSMM	muscle
26	chr6:1700800-1703400	Enhancers	NHLF	lung
27	chr6:1701000-1702200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:1701000-1702200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:1701000-1702200	Enhancers	NH-A	brain
30	chr6:1701200-1702200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:1701200-1702200	Enhancers	HMEC	breast
32	chr6:1701200-1702400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:1701200-1749400	Weak transcription	Colonic Mucosa	Colon
34	chr6:1701400-1703200	Enhancers	NHDF-Ad	bronchial
35	chr6:1701600-1702200	Enhancers	Colon Smooth Muscle	Colon
36	chr6:1701600-1702400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:1701600-1702600	Weak transcription	HepG2	liver
38	chr6:1701600-1703600	Enhancers	Adipose Nuclei	Adipose
39	chr6:1701600-1703600	Enhancers	Rectal Smooth Muscle	rectum
40	chr6:1701600-1703600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr6:1701600-1703800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:1701600-1704800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr6:1702000-1702400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:1702000-1702400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:1702000-1702400	Weak transcription	HSMMtube	muscle
46	chr6:1702000-1702600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:1702000-1702800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:1702000-1702800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:1702000-1703600	Enhancers	Fetal Muscle Trunk	muscle
50	chr6:1702000-1704000	Enhancers	Placenta	Placenta

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