Variant report

Variant	nsv961801
Chromosome Location	chr2:85770562-85772269
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85729372..85732165-chr2:85769657..85772288,2	MCF-7	breast:
2	chr2:37250519..37253429-chr2:85770477..85772159,2	MCF-7	breast:
3	chr2:85730345..85732165-chr2:85772165..85774590,2	K562	blood:
4	chr2:85615286..85623438-chr2:85771409..85780547,22	MCF-7	breast:
5	chr2:85691531..85694177-chr2:85771746..85774337,2	K562	blood:
6	chr2:85716297..85718837-chr2:85769443..85771009,2	K562	blood:
7	chr2:85681701..85683318-chr2:85770931..85773201,2	MCF-7	breast:
8	chr2:85641902..85652165-chr2:85771116..85782225,51	MCF-7	breast:
9	chr2:85557851..85560979-chr2:85771995..85775523,3	K562	blood:
10	chr2:85764454..85770994-chr2:85819148..85831427,14	K562	blood:
11	chr2:85635544..85709381-chr2:85757395..85791508,633	K562	blood:
12	chr2:85771229..85776857-chr2:85808442..85817073,8	K562	blood:
13	chr2:85771530..85774083-chr2:85838738..85840768,2	K562	blood:
14	chr19:56185306..56186143-chr2:85772139..85772918,2	Hela-S3	cervix:
15	chr2:85609654..85691056-chr2:85759187..85790499,656	K562	blood:
16	chr2:85771440..85773925-chr2:85797932..85801717,3	K562	blood:
17	chr17:41438071..41438607-chr2:85772186..85772937,2	Hela-S3	cervix:
18	chr2:85611082..85627761-chr2:85764356..85782623,83	K562	blood:
19	chr2:85623550..85625487-chr2:85771824..85773837,2	MCF-7	breast:
20	chr2:85771408..85781005-chr2:85784986..85791406,15	MCF-7	breast:
21	chr2:85771249..85774219-chr2:85842465..85844960,3	MCF-7	breast:
22	chr2:85616263..85635094-chr2:85763849..85770697,56	MCF-7	breast:
23	chr2:85658029..85667242-chr2:85763719..85770665,19	MCF-7	breast:
24	chr2:85695182..85700475-chr2:85771258..85775492,7	K562	blood:
25	chr2:85643598..85645785-chr2:85770608..85772965,2	MCF-7	breast:
26	chr2:85645994..85650779-chr2:85769890..85775374,14	MCF-7	breast:
27	chr2:85589339..85593545-chr2:85771019..85776270,4	K562	blood:
28	chr2:85771530..85776249-chr2:85829549..85833813,5	K562	blood:
29	chr2:85617430..85626766-chr2:85763113..85771250,22	MCF-7	breast:
30	chr2:85734096..85736580-chr2:85771521..85774702,3	K562	blood:
31	chr2:85579680..85582671-chr2:85771028..85773256,2	K562	blood:
32	chr2:85632185..85634423-chr2:85770143..85772992,3	K562	blood:
33	chr2:85642633..85666582-chr2:85757429..85771032,137	MCF-7	breast:
34	chr2:85729360..85731940-chr2:85770278..85775581,5	K562	blood:

No data

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	MAT2A	hsa-miR-30a-5p	chr2:85772261-85772268
2	MAT2A	hsa-miR-30a-5p	chr2:85772248-85772268
3	MAT2A	hsa-miR-326	chr2:85770676-85770695
4	MAT2A	hsa-miR-26b-5p	chr2:85771956-85771976
5	MAT2A	hsa-miR-186-5p	chr2:85771778-85771799
6	MAT2A	hsa-miR-26b-5p	chr2:85771969-85771976

Variant related genes	Relation type
ENSG00000207207	chromatin interactions
ENSG00000267523	chromatin interactions
ENSG00000042445	chromatin interactions
ENSG00000239143	chromatin interactions
ENSG00000042493	chromatin interactions
ENSG00000168883	chromatin interactions
ENSG00000168894	chromatin interactions
ENSG00000168887	chromatin interactions
ENSG00000252293	chromatin interactions
ENSG00000115486	chromatin interactions
ENSG00000168890	chromatin interactions
ENSG00000244399	chromatin interactions
ENSG00000168899	chromatin interactions
ENSG00000199936	chromatin interactions
ENSG00000273196	chromatin interactions
ENSG00000115459	chromatin interactions
ENSG00000152292	chromatin interactions
ENSG00000118640	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575508419	chr2:85770575-85770576	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs542614977	chr2:85770595-85770596	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs561042422	chr2:85770633-85770634	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs573042038	chr2:85770643-85770644	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs540811745	chr2:85770644-85770645	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs559313111	chr2:85770688-85770689	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	12 gene(s)	Overlapped CNVs	n/a
7	rs533174447	chr2:85770726-85770727	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs551353809	chr2:85770746-85770747	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs141157197	chr2:85770817-85770818	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs138703123	chr2:85770868-85770869	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs368817937	chr2:85770877-85770878	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs372130578	chr2:85770880-85770881	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs369460921	chr2:85770883-85770884	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs372099842	chr2:85770907-85770908	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs148739699	chr2:85771006-85771007	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs530472867	chr2:85771043-85771044	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs549048191	chr2:85771073-85771074	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs142372744	chr2:85771171-85771172	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs371796804	chr2:85771199-85771200	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs562646394	chr2:85771208-85771209	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs534733325	chr2:85771219-85771220	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs546694561	chr2:85771286-85771287	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs571712952	chr2:85771290-85771291	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs539230166	chr2:85771292-85771293	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs6711750	chr2:85771297-85771298	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542611069	chr2:85771300-85771301	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs536237196	chr2:85771361-85771362	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs184837848	chr2:85771402-85771403	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs572981137	chr2:85771410-85771411	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs540302323	chr2:85771438-85771439	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs144911618	chr2:85771447-85771448	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs189711755	chr2:85771451-85771452	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs545194929	chr2:85771464-85771465	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs560991019	chr2:85771514-85771515	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs535170379	chr2:85771566-85771567	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs1867880	chr2:85771587-85771588	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs528550929	chr2:85771620-85771621	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs191347244	chr2:85771669-85771670	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs1050108	chr2:85771739-85771740	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs563435482	chr2:85771760-85771761	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs550275542	chr2:85771784-85771785	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	16 gene(s)	Overlapped CNVs	n/a
42	rs11537669	chr2:85771795-85771796	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	16 gene(s)	Overlapped CNVs	n/a
43	rs530858793	chr2:85771925-85771926	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs193153527	chr2:85771928-85771929	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs377450065	chr2:85771957-85771958	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region miRNA target site	16 gene(s)	Overlapped CNVs	n/a
46	rs528107494	chr2:85771977-85771978	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs371101314	chr2:85771978-85771979	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs370014861	chr2:85772061-85772062	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs571321000	chr2:85772072-85772073	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs538854890	chr2:85772112-85772113	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85766400-85770600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
2	chr2:85766400-85770600	Transcr. at gene 5' and 3'	NHLF	lung
3	chr2:85766600-85770800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:85766800-85770600	Transcr. at gene 5' and 3'	A549	lung
5	chr2:85767000-85770600	Transcr. at gene 5' and 3'	HSMM	muscle
6	chr2:85767000-85771800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:85767200-85770600	Transcr. at gene 5' and 3'	Hela-S3	cervix
8	chr2:85767400-85770600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
9	chr2:85767800-85771000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
10	chr2:85768400-85771400	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr2:85768400-85773800	Strong transcription	Lung	lung
12	chr2:85768400-85774200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:85768400-85774800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:85768400-85774800	Strong transcription	Placenta Amnion	Placenta Amnion
15	chr2:85768400-85777000	Strong transcription	Placenta	Placenta
16	chr2:85768400-85778000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:85768400-85786600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr2:85768600-85770600	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:85768600-85773200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:85768600-85773200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:85768600-85774600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:85768600-85779000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr2:85768600-85786200	Strong transcription	Fetal Thymus	thymus
24	chr2:85768800-85770600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:85768800-85773600	Strong transcription	Spleen	Spleen
26	chr2:85768800-85773800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:85769000-85770600	Strong transcription	Primary B cells from cord blood	blood
28	chr2:85769000-85770600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:85769000-85770600	Genic enhancers	Fetal Intestine Small	intestine
30	chr2:85769000-85770800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:85769000-85770800	Genic enhancers	Stomach Mucosa	stomach
32	chr2:85769000-85773000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:85769000-85773400	Strong transcription	Ovary	ovary
34	chr2:85769000-85774200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr2:85769200-85772200	Genic enhancers	Fetal Heart	heart
36	chr2:85769200-85772800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:85769200-85773000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:85769200-85774400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:85769200-85774600	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:85769200-85774800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:85769400-85770600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:85769400-85770800	Genic enhancers	HepG2	liver
43	chr2:85769400-85771000	Genic enhancers	Rectal Mucosa Donor 29	rectum
44	chr2:85769400-85773200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr2:85769400-85773200	Strong transcription	Colonic Mucosa	Colon
46	chr2:85769400-85774000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:85769400-85775800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:85769400-85776000	Strong transcription	Primary T cells from cord blood	blood
49	chr2:85769400-85776200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:85769400-85777000	Strong transcription	Monocytes-CD14+_RO01746	blood

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