Variant report

Variant	esv2761040
Chromosome Location	chr6:161814307-161860636
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161809042..161810655-chr6:161813271..161814976,2	MCF-7	breast:
2	chr6:161845580..161847353-chr6:161848998..161851271,2	MCF-7	breast:
3	chr6:161827498..161831035-chr6:161833776..161838096,4	K562	blood:
4	chr6:161850736..161851659-chr6:161919208..161919887,3	K562	blood:
5	chr6:161848154..161849846-chr6:161859403..161861110,2	MCF-7	breast:
6	chr6:161826891..161829319-chr6:161893488..161895593,2	K562	blood:
7	chr6:161813445..161815530-chr6:162115453..162117705,2	MCF-7	breast:
8	chr3:161087670..161090609-chr6:161855286..161856788,2	MCF-7	breast:
9	chr6:161831270..161834160-chr6:161834412..161837720,3	K562	blood:
10	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:
11	chr6:161860070..161861572-chr6:161862140..161863792,2	MCF-7	breast:
12	chr6:161815002..161815512-chr6:161919264..161919910,2	K562	blood:
13	chr6:161817088..161818621-chr6:161820651..161823071,2	K562	blood:
14	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:
15	chr6:161836595..161839567-chr6:161842900..161844597,2	K562	blood:
16	chr6:161836595..161839567-chr6:161842900..161844597,2	K562	blood:
17	chr5:153090609..153093589-chr6:161855798..161858427,3	MCF-7	breast:
18	chr6:161839144..161840001-chr6:161919199..161919993,2	MCF-7	breast:
19	chr6:161848154..161849846-chr6:161859403..161861110,2	MCF-7	breast:
20	chr6:161859122..161861758-chr6:161866811..161869668,2	MCF-7	breast:
21	chr6:161814672..161815385-chr6:161919205..161920148,2	MCF-7	breast:
22	chr6:161855223..161857273-chr6:161905432..161907491,2	MCF-7	breast:
23	chr6:161827498..161831035-chr6:161833776..161838096,4	K562	blood:
24	chr6:161817088..161818621-chr6:161820651..161823071,2	K562	blood:
25	chr6:161839408..161840069-chr6:161919484..161920171,3	K562	blood:
26	chr6:161827499..161830369-chr6:161855859..161857703,2	MCF-7	breast:
27	chr6:161831270..161834160-chr6:161834412..161837720,3	K562	blood:
28	chr6:161827499..161830369-chr6:161855859..161857703,2	MCF-7	breast:
29	chr6:161845580..161847353-chr6:161848998..161851271,2	MCF-7	breast:
30	chr6:161850853..161851797-chr6:161918921..161919717,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196542	chromatin interactions

Extended variants
information (count: 2006 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2006 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149726001	chr6:161814316-161814317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184340272	chr6:161814349-161814350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188646324	chr6:161814356-161814357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111635213	chr6:161814404-161814405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192193130	chr6:161814439-161814440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs16892490	chr6:161814487-161814488	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs184988094	chr6:161814491-161814492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557778003	chr6:161814492-161814493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577059475	chr6:161814514-161814515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367907931	chr6:161814606-161814607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145608727	chr6:161814628-161814629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115911036	chr6:161814642-161814643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375524968	chr6:161814695-161814696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542064626	chr6:161814723-161814724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201946299	chr6:161814768-161814769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35921326	chr6:161814769-161814770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561741847	chr6:161814828-161814829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145236980	chr6:161814833-161814834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs137857642	chr6:161814847-161814848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12210160	chr6:161814907-161814908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs532942540	chr6:161814924-161814925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552629427	chr6:161814978-161814979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550177885	chr6:161814993-161814994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564024326	chr6:161815022-161815023	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563498261	chr6:161815048-161815049	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549193731	chr6:161815054-161815055	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190732392	chr6:161815059-161815060	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529668666	chr6:161815060-161815061	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551471471	chr6:161815069-161815070	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543359711	chr6:161815072-161815073	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374246721	chr6:161815079-161815080	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537477758	chr6:161815080-161815081	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140810682	chr6:161815085-161815086	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370934513	chr6:161815105-161815106	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115011750	chr6:161815129-161815130	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535639704	chr6:161815130-161815131	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555638838	chr6:161815154-161815155	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71688699	chr6:161815192-161815193	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572276675	chr6:161815195-161815196	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541079747	chr6:161815196-161815197	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564228155	chr6:161815259-161815260	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9355895	chr6:161815279-161815280	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs3924681	chr6:161815315-161815316	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543439257	chr6:161815339-161815340	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181976827	chr6:161815368-161815369	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571847285	chr6:161815389-161815390	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144639153	chr6:161815392-161815393	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148225724	chr6:161815412-161815413	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs36089862	chr6:161815427-161815428	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs528666610	chr6:161815506-161815507	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD

Chromatin state (count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161780600-161835800	Weak transcription	Right Atrium	heart
2	chr6:161797600-161815000	Weak transcription	Fetal Lung	lung
3	chr6:161811000-161815400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:161811200-161814600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:161811200-161815000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:161811400-161814400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:161814400-161815000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:161814400-161815600	Enhancers	Psoas Muscle	Psoas
9	chr6:161814400-161817800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr6:161814600-161815000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:161814600-161815600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:161814800-161817800	Enhancers	Brain Germinal Matrix	brain
13	chr6:161815000-161815200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:161815000-161815200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:161815000-161815200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:161815000-161815200	Active TSS	Muscle Satellite Cultured Cells	--
17	chr6:161815000-161815200	Active TSS	HSMMtube	muscle
18	chr6:161815000-161815200	Active TSS	NHDF-Ad	bronchial
19	chr6:161815000-161815200	Active TSS	NHEK	skin
20	chr6:161815000-161815200	Enhancers	Osteobl	bone
21	chr6:161815000-161815400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr6:161815000-161815400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr6:161815000-161815400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:161815000-161815400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:161815000-161815400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr6:161815000-161815400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:161815000-161815400	Enhancers	Fetal Kidney	kidney
28	chr6:161815000-161815400	Flanking Active TSS	Fetal Lung	lung
29	chr6:161815000-161815400	Active TSS	Stomach Smooth Muscle	stomach
30	chr6:161815000-161815600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr6:161815000-161815800	Enhancers	HSMM	muscle
32	chr6:161815200-161815400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:161815200-161815400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:161815200-161815400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr6:161815200-161815400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:161815200-161815400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:161815200-161815400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:161815200-161815400	Enhancers	Duodenum Mucosa	Duodenum
39	chr6:161815200-161815400	Enhancers	Fetal Brain Female	brain
40	chr6:161815200-161815400	Flanking Active TSS	HSMMtube	muscle
41	chr6:161815200-161815400	Flanking Active TSS	K562	blood
42	chr6:161815200-161815400	Flanking Active TSS	NHDF-Ad	bronchial
43	chr6:161815200-161815400	Flanking Active TSS	Osteobl	bone
44	chr6:161815200-161815600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr6:161815200-161815600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr6:161815200-161815600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr6:161815200-161815600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr6:161815200-161815600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr6:161815200-161815600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr6:161815200-161815600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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