Variant report

Variant	esv3337895
Chromosome Location	chr6:2198553-2202951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:2197465..2200771-chr6:2202426..2205380,3	K562	blood:
2	chr6:1610715..1613985-chr6:2196585..2199138,3	MCF-7	breast:
3	chr6:2197465..2199923-chr6:2202426..2204312,2	K562	blood:
4	chr6:2197465..2199923-chr6:2202426..2204312,2	K562	blood:
5	chr6:2197465..2200771-chr6:2202426..2205380,3	K562	blood:
6	chr6:2193645..2196467-chr6:2198133..2199923,2	K562	blood:

Extended variants
information (count: 213 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61096641	chr6:2198585-2198586	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535223338	chr6:2198587-2198588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568643942	chr6:2198620-2198621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs234945	chr6:2198641-2198642	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12525537	chr6:2198678-2198679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537750443	chr6:2198686-2198687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs234946	chr6:2198752-2198753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567172683	chr6:2198765-2198766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545080513	chr6:2198778-2198779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368738721	chr6:2198795-2198796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140411684	chr6:2198805-2198806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149875768	chr6:2198818-2198819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572640476	chr6:2198839-2198840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13206375	chr6:2198883-2198884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186169006	chr6:2198922-2198923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576978290	chr6:2199012-2199013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575153321	chr6:2199065-2199066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544191971	chr6:2199103-2199104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191024036	chr6:2199112-2199113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369325345	chr6:2199152-2199153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141319245	chr6:2199156-2199157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111269264	chr6:2199159-2199160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111702083	chr6:2199163-2199164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183327662	chr6:2199243-2199244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550035647	chr6:2199257-2199258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559591408	chr6:2199266-2199267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528601005	chr6:2199313-2199314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551964450	chr6:2199328-2199329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs234947	chr6:2199335-2199336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531203657	chr6:2199381-2199382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371079986	chr6:2199402-2199403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374589155	chr6:2199446-2199447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184964850	chr6:2199535-2199536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576505522	chr6:2199543-2199544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535860180	chr6:2199552-2199553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146438679	chr6:2199560-2199561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191033503	chr6:2199564-2199565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs234948	chr6:2199578-2199579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529935408	chr6:2199584-2199585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12528102	chr6:2199634-2199635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs575077200	chr6:2199638-2199639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140804741	chr6:2199643-2199644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554559805	chr6:2199668-2199669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144637947	chr6:2199723-2199724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542610049	chr6:2199733-2199734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373082127	chr6:2199739-2199740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559795469	chr6:2199762-2199763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182801268	chr6:2199803-2199804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545540171	chr6:2199871-2199872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188414835	chr6:2199885-2199886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2189600-2202800	Weak transcription	Pancreas	Pancrea
2	chr6:2191200-2203400	Weak transcription	Primary T cells from cord blood	blood
3	chr6:2192800-2222000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:2193800-2206600	Weak transcription	Fetal Intestine Small	intestine
5	chr6:2193800-2216800	Weak transcription	Gastric	stomach
6	chr6:2194400-2198600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:2195200-2202800	Weak transcription	Aorta	Aorta
8	chr6:2196800-2198600	Enhancers	Osteobl	bone
9	chr6:2197000-2202600	Weak transcription	HepG2	liver
10	chr6:2197400-2198800	Enhancers	HUVEC	blood vessel
11	chr6:2197400-2222000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:2197600-2202800	Weak transcription	Spleen	Spleen
13	chr6:2197800-2202800	Weak transcription	Left Ventricle	heart
14	chr6:2197800-2209400	Weak transcription	Stomach Mucosa	stomach
15	chr6:2198000-2202400	Weak transcription	Adipose Nuclei	Adipose
16	chr6:2198000-2202800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:2198000-2203200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:2198000-2203400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:2198000-2206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:2198200-2202800	Weak transcription	Right Atrium	heart
21	chr6:2198600-2203400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:2198800-2202800	Weak transcription	HUVEC	blood vessel
23	chr6:2202400-2204200	Enhancers	Adipose Nuclei	Adipose
24	chr6:2202600-2203400	Strong transcription	HepG2	liver
25	chr6:2202800-2203000	Enhancers	Aorta	Aorta
26	chr6:2202800-2203000	Enhancers	Psoas Muscle	Psoas
27	chr6:2202800-2203000	Active TSS	Spleen	Spleen
28	chr6:2202800-2203200	Enhancers	Left Ventricle	heart
29	chr6:2202800-2203200	Enhancers	Pancreas	Pancrea
30	chr6:2202800-2203200	Enhancers	Right Atrium	heart
31	chr6:2202800-2203200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr6:2202800-2204600	Enhancers	HUVEC	blood vessel

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