Variant report

Variant	esv3378815
Chromosome Location	chr2:172720906-172725204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172724899..172727363-chr2:172737515..172740249,2	K562	blood:
2	chr2:172550022..172552574-chr2:172719312..172721554,2	K562	blood:
3	chr2:172720314..172722919-chr2:172744324..172746947,2	K562	blood:
4	chr2:172722204..172724793-chr2:172734963..172736476,2	K562	blood:
5	chr2:172701236..172703599-chr2:172719950..172722171,2	K562	blood:
6	chr2:172712150..172715433-chr2:172717906..172722100,4	K562	blood:

Variant related genes	Relation type
ENSG00000252779	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141023118	chr2:172720917-172720918	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564325267	chr2:172720944-172720945	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542242661	chr2:172720960-172720961	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576326065	chr2:172721195-172721196	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541514893	chr2:172721204-172721205	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543607441	chr2:172721249-172721250	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150132159	chr2:172721256-172721257	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182565763	chr2:172721289-172721290	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547572742	chr2:172721314-172721315	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559740034	chr2:172721318-172721319	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75776799	chr2:172721341-172721342	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372754127	chr2:172721369-172721370	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551663082	chr2:172721449-172721450	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141540685	chr2:172721458-172721459	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531320267	chr2:172721554-172721555	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs537265416	chr2:172721624-172721625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549202041	chr2:172721704-172721705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187222738	chr2:172721722-172721723	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs62182392	chr2:172721762-172721763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs13017585	chr2:172721808-172721809	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs191689306	chr2:172721821-172721822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539410686	chr2:172721954-172721955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183914684	chr2:172721978-172721979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374359067	chr2:172721999-172722000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs6707769	chr2:172722008-172722009	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs561964578	chr2:172722067-172722068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs148910727	chr2:172722154-172722155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550572727	chr2:172722207-172722208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201456158	chr2:172722362-172722363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541525573	chr2:172722363-172722364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559544228	chr2:172722365-172722366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533179757	chr2:172722375-172722376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551330177	chr2:172722395-172722396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563329935	chr2:172722426-172722427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531154065	chr2:172722482-172722483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62182393	chr2:172722515-172722516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372197438	chr2:172722536-172722537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549254709	chr2:172722564-172722565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567855026	chr2:172722607-172722608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62182394	chr2:172722676-172722677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528629438	chr2:172722769-172722770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547489615	chr2:172723070-172723071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201291998	chr2:172723136-172723137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565603497	chr2:172723174-172723175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539524845	chr2:172723178-172723179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557814364	chr2:172723186-172723187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569666323	chr2:172723223-172723224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537383601	chr2:172723242-172723243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199715299	chr2:172723301-172723302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564339762	chr2:172723317-172723318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172690200-172721000	Weak transcription	Aorta	Aorta
2	chr2:172690200-172750200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:172691400-172738600	Weak transcription	Esophagus	oesophagus
4	chr2:172692200-172733400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:172693200-172728000	Weak transcription	Colonic Mucosa	Colon
6	chr2:172693400-172734800	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:172693600-172724200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:172693600-172734400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:172693600-172734600	Weak transcription	HSMM	muscle
10	chr2:172693800-172721000	Weak transcription	Brain Anterior Caudate	brain
11	chr2:172693800-172721000	Weak transcription	Spleen	Spleen
12	chr2:172693800-172725800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:172693800-172727000	Weak transcription	Fetal Kidney	kidney
14	chr2:172693800-172732600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:172693800-172734600	Weak transcription	Right Ventricle	heart
16	chr2:172694000-172724200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:172694000-172724200	Weak transcription	Brain Germinal Matrix	brain
18	chr2:172694000-172732800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:172694000-172734600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:172694000-172734600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:172698600-172724200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:172698600-172734600	Weak transcription	Adipose Nuclei	Adipose
23	chr2:172699000-172734600	Weak transcription	Brain Angular Gyrus	brain
24	chr2:172699400-172721000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:172699600-172731400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:172700200-172724200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:172700200-172724400	Weak transcription	Fetal Stomach	stomach
28	chr2:172700400-172724200	Weak transcription	Fetal Brain Female	brain
29	chr2:172704200-172724200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:172704800-172731000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:172705200-172731400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:172705400-172735200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:172709400-172734400	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:172709600-172749600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:172709600-172749600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:172709800-172731400	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:172710000-172724200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:172710400-172723800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:172710600-172724200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:172710800-172747800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:172711200-172724200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:172711400-172721200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:172711400-172724200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr2:172711400-172731000	Weak transcription	GM12878-XiMat	blood
45	chr2:172711600-172724200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:172711600-172740000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:172712000-172727400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr2:172712000-172731200	Weak transcription	Primary B cells from cord blood	blood
49	chr2:172712200-172731000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:172712200-172749200	Weak transcription	Hela-S3	cervix

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