Variant report

Variant	nsv583013
Chromosome Location	chr2:127417052-127421391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127421256..127423531-chr2:127529484..127531021,2	K562	blood:
2	chr2:127064260..127066484-chr2:127415621..127417230,2	K562	blood:

Variant related genes	Relation type
ENSG00000235774	chromatin interactions

Extended variants
information (count: 181 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28387091	chr2:127417052-127417053	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181041876	chr2:127417062-127417063	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs202034234	chr2:127417075-127417076	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12993890	chr2:127417098-127417099	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566445697	chr2:127417153-127417154	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532234825	chr2:127417189-127417190	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs551488397	chr2:127417208-127417209	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562381244	chr2:127417343-127417344	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs77667798	chr2:127417356-127417357	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs571611836	chr2:127417421-127417422	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs537188722	chr2:127417454-127417455	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186460984	chr2:127417462-127417463	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567789887	chr2:127417507-127417508	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs536857929	chr2:127417508-127417509	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs28387092	chr2:127417559-127417560	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs573585112	chr2:127417579-127417580	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs539290212	chr2:127417592-127417593	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs28387093	chr2:127417620-127417621	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs575163364	chr2:127417718-127417719	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs190900497	chr2:127417725-127417726	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs544005812	chr2:127417808-127417809	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs561061742	chr2:127417821-127417822	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs28369972	chr2:127417822-127417823	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs574162053	chr2:127417895-127417896	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs573151074	chr2:127417900-127417901	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs559868153	chr2:127417910-127417911	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs144319699	chr2:127417920-127417921	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs552437793	chr2:127417929-127417930	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs180803609	chr2:127417942-127417943	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs530911882	chr2:127417948-127417949	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs550670131	chr2:127417963-127417964	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs540564597	chr2:127417986-127417987	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs28387094	chr2:127417987-127417988	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564582614	chr2:127417994-127417995	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs147711604	chr2:127418011-127418012	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs567064677	chr2:127418014-127418015	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs539000283	chr2:127418076-127418077	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs550297182	chr2:127418077-127418078	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs569907653	chr2:127418116-127418117	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs559184523	chr2:127418140-127418141	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs77514386	chr2:127418173-127418174	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs562029943	chr2:127418183-127418184	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs537864290	chr2:127418205-127418206	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs375496316	chr2:127418213-127418214	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs574198827	chr2:127418214-127418215	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs118100270	chr2:127418263-127418264	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs142564007	chr2:127418296-127418297	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs186196031	chr2:127418325-127418326	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs549037008	chr2:127418340-127418341	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs576612780	chr2:127418400-127418401	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127414000-127417400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr2:127414200-127417200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:127414200-127417400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr2:127414600-127417200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:127414600-127417200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr2:127414600-127417200	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr2:127414800-127417200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr2:127415000-127417200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:127415000-127417400	Enhancers	Spleen	Spleen
10	chr2:127415000-127417400	Enhancers	HUVEC	blood vessel
11	chr2:127415000-127417800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:127415000-127417800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:127415000-127423200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:127415200-127417200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr2:127415200-127417200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr2:127415200-127417800	Weak transcription	Brain Germinal Matrix	brain
17	chr2:127415200-127428000	Weak transcription	Gastric	stomach
18	chr2:127415400-127417200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:127415400-127417200	Enhancers	Fetal Kidney	kidney
20	chr2:127415400-127417200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:127415400-127417600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:127415400-127417600	Enhancers	Lung	lung
23	chr2:127415400-127417800	Enhancers	Pancreas	Pancrea
24	chr2:127415400-127418400	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:127415400-127419600	Enhancers	Esophagus	oesophagus
26	chr2:127415600-127417200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:127415600-127417200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:127415600-127417400	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr2:127415600-127417600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:127415600-127417800	Transcr. at gene 5' and 3'	K562	blood
31	chr2:127415600-127418800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
32	chr2:127415600-127421000	Enhancers	Left Ventricle	heart
33	chr2:127415600-127422800	Enhancers	Right Atrium	heart
34	chr2:127415600-127423200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr2:127415600-127424600	Enhancers	Right Ventricle	heart
36	chr2:127415800-127417200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:127415800-127417200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr2:127415800-127417200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:127415800-127417200	Enhancers	Dnd41	blood
40	chr2:127416000-127417200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:127416000-127417200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:127416000-127417200	Enhancers	Hela-S3	cervix
43	chr2:127416000-127417600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:127416000-127417600	Enhancers	Fetal Muscle Trunk	muscle
45	chr2:127416000-127417800	Enhancers	HSMM	muscle
46	chr2:127416000-127421400	Weak transcription	Liver	Liver
47	chr2:127416000-127422600	Genic enhancers	Fetal Muscle Leg	muscle
48	chr2:127416000-127423600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:127416200-127417200	Enhancers	NH-A	brain
50	chr2:127416200-127417200	Enhancers	Osteobl	bone

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