Variant report

Variant	nsv875006
Chromosome Location	chr2:127418459-127423066
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:

Extended variants
information (count: 196 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:196 , 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	rs28387095	chr2:127418459-127418460	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531470565	chr2:127418462-127418463	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs191019027	chr2:127418502-127418503	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs561217867	chr2:127418555-127418556	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs530261977	chr2:127418559-127418560	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs117790872	chr2:127418598-127418599	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558981975	chr2:127418706-127418707	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs575932155	chr2:127418731-127418732	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs372670492	chr2:127418732-127418733	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs146902343	chr2:127418733-127418734	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs539244703	chr2:127418794-127418795	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs552462207	chr2:127418835-127418836	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs7574360	chr2:127418837-127418838	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs145891209	chr2:127418840-127418841	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs554190428	chr2:127418932-127418933	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs567709075	chr2:127418960-127418961	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs542731114	chr2:127418991-127418992	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs202176736	chr2:127419019-127419020	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115739796	chr2:127419023-127419024	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200431893	chr2:127419032-127419033	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369867879	chr2:127419033-127419034	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34234112	chr2:127419043-127419044	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs377609747	chr2:127419047-127419048	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576833799	chr2:127419050-127419051	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183537462	chr2:127419051-127419052	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556041700	chr2:127419055-127419056	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187377311	chr2:127419077-127419078	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576286013	chr2:127419090-127419091	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28387096	chr2:127419105-127419106	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561303326	chr2:127419143-127419144	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530097580	chr2:127419152-127419153	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540606615	chr2:127419154-127419155	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374594058	chr2:127419199-127419200	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28387097	chr2:127419244-127419245	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532461090	chr2:127419248-127419249	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12468932	chr2:127419294-127419295	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576586948	chr2:127419359-127419360	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376565412	chr2:127419414-127419415	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs28387098	chr2:127419438-127419439	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs116141485	chr2:127419442-127419443	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs567745508	chr2:127419449-127419450	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs370848422	chr2:127419519-127419520	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs553317154	chr2:127419563-127419564	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs10928978	chr2:127419582-127419583	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539112684	chr2:127419589-127419590	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs556367982	chr2:127419590-127419591	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs576144861	chr2:127419607-127419608	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs28369973	chr2:127419618-127419619	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs555724175	chr2:127419645-127419646	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs28369974	chr2:127419663-127419664	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	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:293 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127415000-127423200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:127415200-127428000	Weak transcription	Gastric	stomach
3	chr2:127415400-127419600	Enhancers	Esophagus	oesophagus
4	chr2:127415600-127418800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
5	chr2:127415600-127421000	Enhancers	Left Ventricle	heart
6	chr2:127415600-127422800	Enhancers	Right Atrium	heart
7	chr2:127415600-127423200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:127415600-127424600	Enhancers	Right Ventricle	heart
9	chr2:127416000-127421400	Weak transcription	Liver	Liver
10	chr2:127416000-127422600	Genic enhancers	Fetal Muscle Leg	muscle
11	chr2:127416000-127423600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:127416200-127418600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:127416200-127418600	Enhancers	Colon Smooth Muscle	Colon
14	chr2:127416200-127419400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:127416200-127429000	Weak transcription	Fetal Intestine Small	intestine
16	chr2:127416200-127430000	Weak transcription	Fetal Intestine Large	intestine
17	chr2:127416200-127430200	Weak transcription	Aorta	Aorta
18	chr2:127416600-127420400	Enhancers	Ovary	ovary
19	chr2:127416600-127425000	Enhancers	Fetal Heart	heart
20	chr2:127416800-127421800	Enhancers	Primary B cells from cord blood	blood
21	chr2:127416800-127425400	Weak transcription	Small Intestine	intestine
22	chr2:127417000-127419000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:127417000-127419600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:127417000-127419600	Enhancers	Fetal Thymus	thymus
25	chr2:127417000-127420000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr2:127417000-127421200	Weak transcription	Brain Substantia Nigra	brain
27	chr2:127417000-127421200	Enhancers	Placenta	Placenta
28	chr2:127417000-127421400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:127417000-127422400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:127417000-127423200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:127417000-127423400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:127417000-127424000	Enhancers	Psoas Muscle	Psoas
33	chr2:127417200-127419400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr2:127417200-127419400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:127417200-127419800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:127417200-127420200	Weak transcription	Fetal Kidney	kidney
37	chr2:127417200-127421000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:127417200-127421200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:127417200-127421200	Weak transcription	NH-A	brain
40	chr2:127417200-127421400	Weak transcription	Stomach Mucosa	stomach
41	chr2:127417200-127421600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:127417200-127422000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:127417200-127423000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:127417200-127423000	Enhancers	Primary hematopoietic stem cells	blood
45	chr2:127417200-127423400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:127417200-127423800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:127417200-127424000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:127417200-127425000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:127417200-127433000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:127417200-127443600	Weak transcription	Placenta Amnion	Placenta Amnion

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