Variant report

Variant	esv10306
Chromosome Location	chr6:38495659-38504443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 305 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149749616	chr6:38495663-38495664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs570172853	chr6:38495713-38495714	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs145446827	chr6:38495755-38495756	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs188988505	chr6:38495763-38495764	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs148825478	chr6:38495779-38495780	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs181048210	chr6:38495815-38495816	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561503714	chr6:38495846-38495847	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143478049	chr6:38495896-38495897	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575012535	chr6:38495906-38495907	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544033300	chr6:38495942-38495943	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376635566	chr6:38496001-38496002	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186557012	chr6:38496049-38496050	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6904284	chr6:38496052-38496053	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545144946	chr6:38496091-38496092	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77151696	chr6:38496092-38496093	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189141055	chr6:38496128-38496129	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547394442	chr6:38496146-38496147	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200760183	chr6:38496173-38496174	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35789399	chr6:38496187-38496188	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61250961	chr6:38496196-38496197	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs376834353	chr6:38496256-38496257	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529937645	chr6:38496260-38496261	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550009428	chr6:38496283-38496284	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76965577	chr6:38496323-38496324	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538420687	chr6:38496361-38496362	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138149891	chr6:38496369-38496370	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564140658	chr6:38496492-38496493	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117813642	chr6:38496495-38496496	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534727703	chr6:38496521-38496522	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112840590	chr6:38496536-38496537	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574732761	chr6:38496552-38496553	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370529081	chr6:38496561-38496562	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557602973	chr6:38496637-38496638	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145122335	chr6:38496672-38496673	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150986707	chr6:38496701-38496702	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531301175	chr6:38496702-38496703	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7743741	chr6:38496761-38496762	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565000406	chr6:38496828-38496829	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116662253	chr6:38496902-38496903	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541067891	chr6:38496906-38496907	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560731979	chr6:38496916-38496917	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529647130	chr6:38496917-38496918	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546365521	chr6:38496923-38496924	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549829915	chr6:38496933-38496934	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139005845	chr6:38496954-38496955	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147750744	chr6:38496984-38496985	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532210653	chr6:38496999-38497000	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551933298	chr6:38497015-38497016	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373173850	chr6:38497040-38497041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565868845	chr6:38497135-38497136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	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
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38444600-38496200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr6:38452400-38496600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:38476600-38499800	Weak transcription	Pancreas	Pancrea
4	chr6:38476800-38498800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:38477800-38498400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:38479000-38509800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:38485200-38496200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:38485400-38500400	Weak transcription	Gastric	stomach
9	chr6:38487000-38518600	Weak transcription	Primary T cells from cord blood	blood
10	chr6:38487800-38502600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:38489000-38501000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:38490200-38499600	Weak transcription	Brain Angular Gyrus	brain
13	chr6:38490400-38497800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:38490600-38495800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:38490600-38496200	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:38490600-38503400	Weak transcription	Fetal Lung	lung
17	chr6:38492800-38508000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr6:38493000-38495800	Weak transcription	NH-A	brain
19	chr6:38493400-38496400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:38493600-38498600	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr6:38494200-38497200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:38494200-38499600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:38494200-38499800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:38494400-38495800	Weak transcription	Fetal Stomach	stomach
25	chr6:38494400-38495800	Weak transcription	Lung	lung
26	chr6:38494400-38496000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr6:38494400-38496400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:38494400-38496600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:38494400-38497600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:38494400-38499800	Weak transcription	Left Ventricle	heart
31	chr6:38494400-38499800	Weak transcription	Spleen	Spleen
32	chr6:38494400-38500200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:38494400-38513800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr6:38494400-38515400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:38494400-38518800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:38494400-38524200	Weak transcription	Aorta	Aorta
37	chr6:38494600-38497200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr6:38494800-38495800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:38494800-38499400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr6:38494800-38522600	Weak transcription	Ovary	ovary
41	chr6:38495000-38521800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:38495200-38496000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
43	chr6:38495600-38496000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
44	chr6:38495800-38496000	Genic enhancers	Lung	lung
45	chr6:38495800-38496200	Enhancers	NH-A	brain
46	chr6:38495800-38496600	Strong transcription	Fetal Stomach	stomach
47	chr6:38495800-38496800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr6:38496000-38496400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:38496000-38496400	Enhancers	Right Ventricle	heart
50	chr6:38496000-38496400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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