Variant report

Variant	esv2421836
Chromosome Location	chr6:53581398-53591120
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:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:53357833..53358597-chr6:53583369..53584337,3	K562	blood:
2	chr6:53588027..53590620-chr6:53675669..53678421,2	MCF-7	breast:
3	chr6:53565411..53567579-chr6:53579711..53581934,2	MCF-7	breast:
4	chr6:53590810..53593190-chr6:53597036..53600341,4	K562	blood:
5	chr6:53581943..53584631-chr6:53587222..53589336,3	MCF-7	breast:
6	chr6:53589302..53590903-chr6:53592714..53595336,2	K562	blood:
7	chr6:53583327..53584025-chr6:53820811..53821451,2	MCF-7	breast:
8	chr6:53357555..53358402-chr6:53590290..53591260,4	K562	blood:
9	chr6:53587433..53591147-chr6:53595586..53599292,4	MCF-7	breast:
10	chr6:53358288..53358988-chr6:53590034..53591204,3	MCF-7	breast:
11	chr6:53378309..53379060-chr6:53590323..53590881,2	MCF-7	breast:
12	chr6:53581943..53584631-chr6:53587222..53589336,3	MCF-7	breast:
13	chr6:53516671..53518665-chr6:53582679..53584844,2	MCF-7	breast:
14	chr6:53357696..53358365-chr6:53590241..53590901,2	MCF-7	breast:
15	chr6:53586816..53590066-chr6:53659278..53661378,3	MCF-7	breast:
16	chr6:53361794..53363880-chr6:53582795..53585369,2	MCF-7	breast:
17	chr6:53586153..53589152-chr6:53658301..53661018,2	MCF-7	breast:
18	chr6:53583394..53584065-chr6:53599288..53600218,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL31-5	chr6:53589643-53589926	ucscGeneNc_uc003pby_1

No data

Variant related genes	Relation type
ENSG00000137269	chromatin interactions
ENSG00000228614	chromatin interactions

Extended variants
information (count: 374 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:374 , 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	rs7769821	chr6:53581398-53581399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575877884	chr6:53581411-53581412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543890772	chr6:53581446-53581447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560933082	chr6:53581463-53581464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548348846	chr6:53581467-53581468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149099393	chr6:53581478-53581479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539902880	chr6:53581481-53581482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4295480	chr6:53581505-53581506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192889761	chr6:53581547-53581548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552461177	chr6:53581554-53581555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9296717	chr6:53581559-53581560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs143196671	chr6:53581565-53581566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550746341	chr6:53581583-53581584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567755652	chr6:53581612-53581613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185288105	chr6:53581616-53581617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372782108	chr6:53581638-53581639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188653497	chr6:53581675-53581676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79544384	chr6:53581693-53581694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193267166	chr6:53581733-53581734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148236749	chr6:53581749-53581750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372844121	chr6:53581777-53581778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559083993	chr6:53581781-53581782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557440679	chr6:53581831-53581832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9463968	chr6:53581846-53581847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs185680338	chr6:53581923-53581924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556755339	chr6:53581935-53581936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188195419	chr6:53581961-53581962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574051127	chr6:53581986-53581987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114220194	chr6:53582031-53582032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181060749	chr6:53582037-53582038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184138899	chr6:53582040-53582041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs118001662	chr6:53582056-53582057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140331438	chr6:53582060-53582061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562700383	chr6:53582061-53582062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146504423	chr6:53582072-53582073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548418215	chr6:53582088-53582089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567685596	chr6:53582104-53582105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539999427	chr6:53582203-53582204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371443157	chr6:53582226-53582227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530080623	chr6:53582344-53582345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs36072655	chr6:53582355-53582356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34077975	chr6:53582359-53582360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546999951	chr6:53582375-53582376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566997296	chr6:53582385-53582386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117069953	chr6:53582407-53582408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552535371	chr6:53582456-53582457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573329381	chr6:53582505-53582506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569395872	chr6:53582511-53582512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188711114	chr6:53582564-53582565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570531621	chr6:53582588-53582589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53574000-53583400	Weak transcription	Psoas Muscle	Psoas
2	chr6:53580600-53582200	Weak transcription	Fetal Intestine Large	intestine
3	chr6:53580800-53582400	Weak transcription	Fetal Intestine Small	intestine
4	chr6:53581200-53583600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:53582000-53582600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr6:53582000-53583800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:53582200-53582600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:53582200-53582600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:53582200-53583000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr6:53582200-53583800	Enhancers	Fetal Intestine Large	intestine
11	chr6:53582400-53582600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:53582400-53582600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:53582400-53582600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:53582400-53584600	Enhancers	Fetal Intestine Small	intestine
15	chr6:53582600-53588400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:53582800-53583800	Enhancers	NHEK	skin
17	chr6:53582800-53588400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:53583000-53584200	Enhancers	Adipose Nuclei	Adipose
19	chr6:53583000-53590800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr6:53583400-53583600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:53583400-53583600	Enhancers	Psoas Muscle	Psoas
22	chr6:53583400-53584400	Enhancers	Duodenum Mucosa	Duodenum
23	chr6:53583400-53584600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:53583600-53584000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:53583600-53584000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr6:53583600-53584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:53583600-53584200	Enhancers	Fetal Kidney	kidney
28	chr6:53583800-53584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:53583800-53584200	Enhancers	Liver	Liver
30	chr6:53583800-53584200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr6:53583800-53584400	Enhancers	Dnd41	blood
32	chr6:53583800-53587600	Weak transcription	Pancreas	Pancrea
33	chr6:53583800-53588600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:53583800-53588800	Weak transcription	Fetal Intestine Large	intestine
35	chr6:53584000-53584200	Enhancers	Rectal Smooth Muscle	rectum
36	chr6:53584000-53584200	Enhancers	HUVEC	blood vessel
37	chr6:53584000-53588400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:53584200-53590600	Weak transcription	Fetal Kidney	kidney
39	chr6:53584400-53589600	Weak transcription	Dnd41	blood
40	chr6:53584600-53588200	Weak transcription	Fetal Intestine Small	intestine
41	chr6:53586400-53586800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:53586600-53588400	Enhancers	Placenta	Placenta
43	chr6:53586800-53587600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:53587600-53588400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:53587600-53588400	Enhancers	Pancreas	Pancrea
46	chr6:53587800-53588400	Enhancers	A549	lung
47	chr6:53588200-53588400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr6:53588200-53588400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr6:53588200-53588400	Enhancers	HepG2	liver
50	chr6:53588200-53588600	Enhancers	Stomach Mucosa	stomach

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