Variant report

Variant	nsv10142
Chromosome Location	chr2:127855764-127859277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:127854702..127856656-chr2:127856950..127858701,2	MCF-7	breast:
2	chr2:127825324..127826896-chr2:127856890..127859750,2	MCF-7	breast:
3	chr2:127823166..127825424-chr2:127856557..127859034,2	MCF-7	breast:
4	chr2:127852372..127854342-chr2:127858358..127859956,2	MCF-7	breast:
5	chr2:127854702..127856656-chr2:127856950..127858701,2	MCF-7	breast:
6	chr2:127841990..127844933-chr2:127856467..127858298,2	K562	blood:
7	chr2:127825223..127826267-chr2:127857805..127858865,3	MCF-7	breast:
8	chr2:127853337..127855770-chr2:127871735..127873345,2	K562	blood:
9	chr2:127857696..127862567-chr2:127862895..127866178,8	MCF-7	breast:
10	chr2:127842254..127844330-chr2:127859021..127861716,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136717	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs570656672	chr2:127855825-127855826	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs184448045	chr2:127855830-127855831	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs565095452	chr2:127855842-127855843	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs529762015	chr2:127855847-127855848	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs533415697	chr2:127855860-127855861	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs550305523	chr2:127855911-127855912	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs75327795	chr2:127855939-127855940	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs529337723	chr2:127855949-127855950	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs187627786	chr2:127855970-127855971	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs78190593	chr2:127855996-127855997	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs371289973	chr2:127856061-127856062	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs375903230	chr2:127856064-127856065	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs35925423	chr2:127856111-127856112	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs369749753	chr2:127856209-127856210	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs115314490	chr2:127856227-127856228	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs557902836	chr2:127856272-127856273	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs374505304	chr2:127856320-127856321	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs150023239	chr2:127856406-127856407	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs536709030	chr2:127856447-127856448	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs556684186	chr2:127856469-127856470	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs573278779	chr2:127856535-127856536	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs542642039	chr2:127856561-127856562	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs377059452	chr2:127856565-127856566	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs552706822	chr2:127856570-127856571	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs573061143	chr2:127856575-127856576	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs544976638	chr2:127856578-127856579	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs569340491	chr2:127856639-127856640	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs369735571	chr2:127856690-127856691	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs530767660	chr2:127856716-127856717	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs746979	chr2:127856734-127856735	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs62158726	chr2:127856761-127856762	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs563803494	chr2:127856828-127856829	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs529259057	chr2:127856836-127856837	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs116528535	chr2:127856837-127856838	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs565962655	chr2:127856898-127856899	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs528738063	chr2:127856900-127856901	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs5834165	chr2:127856926-127856927	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs80115947	chr2:127856927-127856928	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs3033389	chr2:127856948-127856949	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs11679662	chr2:127856952-127856953	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs199983293	chr2:127856986-127856987	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs537274170	chr2:127856992-127856993	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs145345591	chr2:127857026-127857027	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2404527	chr2:127857046-127857047	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs535984137	chr2:127857071-127857072	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552883761	chr2:127857124-127857125	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572757489	chr2:127857131-127857132	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545276930	chr2:127857143-127857144	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371371628	chr2:127857174-127857175	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191771796	chr2:127857175-127857176	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Breast cancer	22522925	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127842200-127857000	Enhancers	Psoas Muscle	Psoas
2	chr2:127845200-127859400	Enhancers	Brain Anterior Caudate	brain
3	chr2:127845400-127858400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:127846000-127856000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:127846800-127856800	Genic enhancers	Fetal Intestine Small	intestine
6	chr2:127848000-127857200	Enhancers	HSMMtube	muscle
7	chr2:127848400-127858400	Genic enhancers	Fetal Muscle Trunk	muscle
8	chr2:127848800-127857000	Enhancers	Brain Angular Gyrus	brain
9	chr2:127849800-127857000	Bivalent Enhancer	Placenta	Placenta
10	chr2:127850000-127856200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:127850000-127856600	Enhancers	Fetal Intestine Large	intestine
12	chr2:127850600-127856800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:127850600-127857000	Enhancers	Adipose Nuclei	Adipose
14	chr2:127850800-127856000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:127851000-127858200	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:127851400-127858000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:127851600-127855800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr2:127851800-127856800	Enhancers	Colon Smooth Muscle	Colon
19	chr2:127851800-127857000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:127852000-127856000	Enhancers	Gastric	stomach
21	chr2:127852000-127856800	Enhancers	Liver	Liver
22	chr2:127852200-127856400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:127852400-127859800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:127852600-127856600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:127852600-127856800	Enhancers	Stomach Mucosa	stomach
26	chr2:127853000-127856400	Weak transcription	Esophagus	oesophagus
27	chr2:127853000-127857200	Enhancers	HSMM	muscle
28	chr2:127853000-127858600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:127853000-127861600	Weak transcription	NHDF-Ad	bronchial
30	chr2:127853200-127855800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:127853200-127857000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:127853200-127858200	Weak transcription	Osteobl	bone
33	chr2:127853200-127862000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:127853200-127862200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:127853200-127862400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:127853200-127862600	Weak transcription	NHLF	lung
37	chr2:127853200-127863000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:127853400-127857800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:127853400-127858000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr2:127853400-127858000	Weak transcription	Fetal Kidney	kidney
41	chr2:127853400-127859600	Weak transcription	Ovary	ovary
42	chr2:127853400-127862400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:127853600-127856800	Enhancers	Fetal Muscle Leg	muscle
44	chr2:127853600-127862200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:127853800-127856400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr2:127853800-127858000	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr2:127854000-127856800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:127854200-127856400	Weak transcription	Fetal Lung	lung
49	chr2:127854200-127862400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:127854400-127856200	Weak transcription	Lung	lung

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