Variant report

Variant	esv3447904
Chromosome Location	chr19:19226469-19228174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19143346..19145337-chr19:19226812..19228398,2	K562	blood:
2	chr19:19222347..19224827-chr19:19224890..19227152,2	K562	blood:
3	chr19:19164303..19165014-chr19:19226443..19227934,4	MCF-7	breast:
4	chr19:19164343..19165583-chr19:19226509..19227322,3	K562	blood:
5	chr19:19226929..19229121-chr19:19230831..19233300,2	K562	blood:
6	chr19:19171826..19174275-chr19:19223519..19227124,3	K562	blood:

Variant related genes	Relation type
ENSG00000064607	chromatin interactions
ENSG00000064545	chromatin interactions
ENSG00000105676	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199742634	chr19:19226469-19226470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139763979	chr19:19226484-19226485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187334591	chr19:19226485-19226486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200305906	chr19:19226495-19226496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543781437	chr19:19226522-19226523	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201289903	chr19:19226523-19226524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557375334	chr19:19226525-19226526	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577504837	chr19:19226535-19226536	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540143961	chr19:19226543-19226544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560041279	chr19:19226556-19226557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533883021	chr19:19226591-19226592	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs529107522	chr19:19226617-19226618	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201424860	chr19:19226632-19226633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139682546	chr19:19226649-19226650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562190328	chr19:19226692-19226693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561416310	chr19:19226707-19226708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs149807672	chr19:19226708-19226709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550986513	chr19:19226712-19226713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs10221450	chr19:19226732-19226733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201724801	chr19:19226739-19226740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs533622295	chr19:19226792-19226793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547296269	chr19:19226829-19226830	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs555214591	chr19:19226843-19226844	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs536034011	chr19:19226849-19226850	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs570266190	chr19:19226861-19226862	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs555708786	chr19:19226891-19226892	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568606081	chr19:19226894-19226895	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs191711160	chr19:19226908-19226909	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs557289250	chr19:19226927-19226928	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs577219667	chr19:19226931-19226932	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs117591960	chr19:19226932-19226933	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs183615544	chr19:19226934-19226935	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs573886249	chr19:19226939-19226940	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs188206517	chr19:19227016-19227017	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs562583707	chr19:19227032-19227033	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs191681085	chr19:19227145-19227146	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs372945982	chr19:19227229-19227230	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs79559495	chr19:19227236-19227237	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs77205826	chr19:19227245-19227246	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs12979596	chr19:19227247-19227248	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs77809692	chr19:19227250-19227251	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs75058728	chr19:19227252-19227253	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs77694971	chr19:19227256-19227257	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs370335220	chr19:19227280-19227281	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs76364801	chr19:19227281-19227282	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs76054098	chr19:19227282-19227283	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs75920892	chr19:19227283-19227284	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs12979623	chr19:19227295-19227296	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs553929313	chr19:19227297-19227298	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs386807521	chr19:19227299-19227300	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:19194600-19229400	Weak transcription	Dnd41	blood
4	chr19:19203800-19245600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:19206600-19229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:19210200-19230200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:19212600-19229600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:19212600-19240800	Weak transcription	Aorta	Aorta
9	chr19:19217000-19236800	Weak transcription	Hela-S3	cervix
10	chr19:19217200-19247800	Weak transcription	Right Atrium	heart
11	chr19:19217400-19229400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr19:19217400-19229600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr19:19217400-19229600	Weak transcription	NHLF	lung
14	chr19:19219200-19229400	Weak transcription	Pancreas	Pancrea
15	chr19:19219400-19229400	Weak transcription	Lung	lung
16	chr19:19219400-19229600	Weak transcription	Brain Hippocampus Middle	brain
17	chr19:19219400-19229600	Weak transcription	Left Ventricle	heart
18	chr19:19219800-19229400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:19219800-19230000	Weak transcription	Brain Substantia Nigra	brain
20	chr19:19220400-19247800	Weak transcription	Psoas Muscle	Psoas
21	chr19:19220800-19242800	Weak transcription	Osteobl	bone
22	chr19:19221400-19230200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:19221400-19232600	Weak transcription	HSMMtube	muscle
24	chr19:19221600-19229600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr19:19221600-19229600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr19:19221600-19230200	Weak transcription	Right Ventricle	heart
27	chr19:19221800-19229200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr19:19221800-19229400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr19:19221800-19229600	Weak transcription	Brain Angular Gyrus	brain
30	chr19:19221800-19229600	Weak transcription	Esophagus	oesophagus
31	chr19:19221800-19230200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr19:19221800-19230400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:19221800-19231400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr19:19221800-19235200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr19:19221800-19242800	Weak transcription	Spleen	Spleen
36	chr19:19221800-19243200	Weak transcription	A549	lung
37	chr19:19222000-19229400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr19:19222000-19229400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr19:19222000-19229400	Weak transcription	Fetal Thymus	thymus
40	chr19:19222000-19229600	Weak transcription	Brain Anterior Caudate	brain
41	chr19:19222000-19229600	Weak transcription	Fetal Intestine Large	intestine
42	chr19:19222000-19230200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:19222000-19230400	Weak transcription	Colonic Mucosa	Colon
44	chr19:19222000-19230400	Weak transcription	Ovary	ovary
45	chr19:19222000-19230600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr19:19222000-19240800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr19:19222200-19229400	Weak transcription	Fetal Intestine Small	intestine
48	chr19:19222200-19231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr19:19222200-19233600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:19222200-19248200	Weak transcription	Rectal Mucosa Donor 31	rectum

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