Variant report

Variant	esv3424715
Chromosome Location	chr6:49443893-49446291
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:49434330..49436569-chr6:49445501..49447295,2	K562	blood:
2	chr6:49445932..49448619-chr6:49451327..49454522,3	K562	blood:
3	chr6:49444826..49447432-chr6:49451327..49454178,2	K562	blood:
4	chr6:49429532..49432172-chr6:49444762..49446300,2	K562	blood:

Variant related genes	Relation type
ENSG00000146085	chromatin interactions
ENSG00000031691	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185764175	chr6:49443912-49443913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375897758	chr6:49443938-49443939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370582653	chr6:49443942-49443943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13215139	chr6:49443960-49443961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7769018	chr6:49443984-49443985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs13215151	chr6:49443988-49443989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13215258	chr6:49444013-49444014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13215267	chr6:49444028-49444029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559841665	chr6:49444033-49444034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13215509	chr6:49444035-49444036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181966670	chr6:49444043-49444044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200628661	chr6:49444046-49444047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13215284	chr6:49444062-49444063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13200933	chr6:49444063-49444064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533375076	chr6:49444073-49444074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551840991	chr6:49444081-49444082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570063881	chr6:49444087-49444088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13215280	chr6:49444097-49444098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530864320	chr6:49444114-49444115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13201041	chr6:49444115-49444116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13215650	chr6:49444140-49444141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548990282	chr6:49444142-49444143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13215655	chr6:49444143-49444144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13215315	chr6:49444165-49444166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13201067	chr6:49444175-49444176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567468389	chr6:49444196-49444197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534489755	chr6:49444202-49444203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552653093	chr6:49444231-49444232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570967628	chr6:49444233-49444234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186307872	chr6:49444294-49444295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556583449	chr6:49444355-49444356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201847151	chr6:49444396-49444397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574870252	chr6:49444551-49444552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544112490	chr6:49444585-49444586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188726857	chr6:49444631-49444632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574183947	chr6:49444649-49444650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138696608	chr6:49444662-49444663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559977458	chr6:49444682-49444683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578179209	chr6:49444695-49444696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545498913	chr6:49444698-49444699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563706876	chr6:49444784-49444785	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs565713311	chr6:49444846-49444847	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs530776372	chr6:49444853-49444854	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs180762351	chr6:49444857-49444858	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs534823878	chr6:49444859-49444860	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs185201291	chr6:49444860-49444861	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs528296182	chr6:49444882-49444883	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs189771598	chr6:49444896-49444897	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs571105223	chr6:49444932-49444933	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs9349492	chr6:49444951-49444952	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:82)

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
Melanoma	18172304	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
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	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
Bladder cancer	21909424	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49431600-49449200	Weak transcription	Spleen	Spleen
2	chr6:49431800-49449000	Weak transcription	Esophagus	oesophagus
3	chr6:49431800-49456400	Weak transcription	Placenta	Placenta
4	chr6:49431800-49456600	Weak transcription	Left Ventricle	heart
5	chr6:49431800-49461200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:49431800-49462000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:49432000-49451400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:49432000-49456200	Weak transcription	Brain Anterior Caudate	brain
9	chr6:49432000-49456400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:49432000-49457600	Weak transcription	HSMM	muscle
11	chr6:49432000-49459600	Weak transcription	Small Intestine	intestine
12	chr6:49432000-49462000	Weak transcription	Brain Angular Gyrus	brain
13	chr6:49432000-49463000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:49432200-49449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:49432200-49449200	Weak transcription	Fetal Intestine Small	intestine
16	chr6:49432200-49449400	Weak transcription	Ovary	ovary
17	chr6:49432200-49449600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:49432200-49452400	Weak transcription	Primary T cells from cord blood	blood
19	chr6:49432200-49456200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:49432200-49456400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr6:49432200-49456400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:49432200-49456600	Weak transcription	NH-A	brain
23	chr6:49432200-49457400	Weak transcription	Brain Germinal Matrix	brain
24	chr6:49432200-49461600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:49432200-49462400	Weak transcription	Fetal Lung	lung
26	chr6:49432200-49462800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:49432200-49463800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:49432200-49465000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr6:49432400-49448800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:49432400-49456400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:49432600-49456000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:49432600-49456000	Weak transcription	HMEC	breast
33	chr6:49432600-49456400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:49432600-49456400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr6:49432600-49456800	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:49432600-49460600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:49432600-49472000	Weak transcription	NHEK	skin
38	chr6:49433200-49459600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr6:49433200-49461200	Weak transcription	NHDF-Ad	bronchial
40	chr6:49433600-49449400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:49433600-49458600	Weak transcription	Hela-S3	cervix
42	chr6:49433800-49446000	Weak transcription	Primary B cells from cord blood	blood
43	chr6:49434200-49456400	Weak transcription	GM12878-XiMat	blood
44	chr6:49437400-49456400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr6:49439400-49446600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:49439400-49456600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:49440400-49449400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:49440400-49460000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:49440400-49465200	Weak transcription	HUVEC	blood vessel
50	chr6:49440800-49455200	Weak transcription	Primary T cells fromperipheralblood	blood

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