Variant report

Variant	nsv1012401
Chromosome Location	chr2:34302403-34468097
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:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:34451708..34454413-chr2:34493747..34495311,2	K562	blood:
2	chr2:34324491..34327338-chr2:34327561..34329321,2	MCF-7	breast:
3	chr2:34324491..34327338-chr2:34327561..34329321,2	MCF-7	breast:
4	chr2:34437642..34440323-chr2:34446994..34448643,2	K562	blood:
5	chr2:34401156..34402823-chr2:34426410..34428532,2	K562	blood:
6	chr2:33906087..33906631-chr2:34321375..34322022,2	MCF-7	breast:
7	chr2:34334993..34337694-chr2:34340157..34342643,2	K562	blood:
8	chr2:34416041..34418842-chr2:34421357..34424092,2	K562	blood:
9	chr2:34334993..34337694-chr2:34340157..34342643,2	K562	blood:
10	chr2:34416041..34418842-chr2:34421357..34424092,2	K562	blood:
11	chr2:34401156..34402823-chr2:34426410..34428532,2	K562	blood:
12	chr2:34237451..34238372-chr2:34321266..34322187,3	MCF-7	breast:
13	chr2:34437642..34440323-chr2:34446994..34448643,2	K562	blood:
14	chr2:34321239..34322372-chr2:34772370..34773083,4	MCF-7	breast:
15	chr2:34321381..34322557-chr2:34795669..34796275,5	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-13	chr2:34463088-34463140	NONHSAT070033
2	lnc-RASGRP3-13	chr2:34462359-34462780	NONHSAT070033

No data

Extended variants
information (count: 2552 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2552 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566742279	chr2:34305866-34305867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146343177	chr2:34305877-34305878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372758180	chr2:34305878-34305879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1346005	chr2:34305888-34305889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs545278557	chr2:34305895-34305896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs58377693	chr2:34305915-34305916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs111336805	chr2:34305931-34305932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537143805	chr2:34305956-34305957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557351826	chr2:34305971-34305972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs57551237	chr2:34305978-34305979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs545758035	chr2:34305984-34305985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147911257	chr2:34306008-34306009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148954709	chr2:34306031-34306032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61692313	chr2:34306033-34306034	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562134650	chr2:34306035-34306036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531761435	chr2:34306054-34306055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78920939	chr2:34306077-34306078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550383873	chr2:34306080-34306081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79903173	chr2:34306108-34306109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550115648	chr2:34306117-34306118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191097417	chr2:34306134-34306135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57423133	chr2:34306136-34306137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566779154	chr2:34306187-34306188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs60468146	chr2:34306205-34306206	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs180722394	chr2:34306209-34306210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143787475	chr2:34306211-34306212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs55670974	chr2:34306253-34306254	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs6728254	chr2:34306303-34306304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186575476	chr2:34306304-34306305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552908722	chr2:34306312-34306313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13401714	chr2:34306320-34306321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74473192	chr2:34306339-34306340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575735394	chr2:34306355-34306356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566052454	chr2:34306375-34306376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544758826	chr2:34306378-34306379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537880510	chr2:34320628-34320629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547308639	chr2:34320642-34320643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184810672	chr2:34320644-34320645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116997134	chr2:34320689-34320690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540167525	chr2:34320692-34320693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151162315	chr2:34320734-34320735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374477691	chr2:34320784-34320785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140327553	chr2:34320790-34320791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542381669	chr2:34320796-34320797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561883193	chr2:34320835-34320836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530890389	chr2:34320838-34320839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145435292	chr2:34320861-34320862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564312458	chr2:34320895-34320896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533315275	chr2:34320911-34320912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138161309	chr2:34320913-34320914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34305800-34306400	Enhancers	Fetal Intestine Large	intestine
2	chr2:34320600-34320800	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr2:34320800-34321800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:34320800-34322400	Enhancers	Brain Hippocampus Middle	brain
5	chr2:34321400-34322200	Enhancers	Brain Angular Gyrus	brain
6	chr2:34321400-34322200	Enhancers	Brain Substantia Nigra	brain
7	chr2:34321800-34322200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:34322800-34323600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:34324400-34326600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:34324800-34325000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:34325200-34329600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:34325600-34326000	Enhancers	Colon Smooth Muscle	Colon
13	chr2:34325600-34326000	Enhancers	HUVEC	blood vessel
14	chr2:34325600-34326200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:34326000-34327400	Weak transcription	HUVEC	blood vessel
16	chr2:34326200-34329200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:34327000-34329600	Enhancers	NHEK	skin
18	chr2:34327200-34328400	Enhancers	HMEC	breast
19	chr2:34327400-34329600	Enhancers	HUVEC	blood vessel
20	chr2:34327600-34327800	Enhancers	NH-A	brain
21	chr2:34327800-34328000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:34327800-34328000	Enhancers	Osteobl	bone
23	chr2:34328000-34329000	Weak transcription	NH-A	brain
24	chr2:34328000-34330000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:34328400-34329600	Weak transcription	HMEC	breast
26	chr2:34328400-34330200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:34328600-34329600	Weak transcription	Osteobl	bone
28	chr2:34329000-34329600	Enhancers	NH-A	brain
29	chr2:34329200-34329600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:34329400-34330200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:34329600-34329800	Flanking Active TSS	NHEK	skin
32	chr2:34329600-34329800	Enhancers	Osteobl	bone
33	chr2:34329600-34330000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:34329600-34330000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:34329600-34330000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:34329600-34330200	Flanking Active TSS	NH-A	brain
37	chr2:34329600-34330800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:34329600-34330800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr2:34329600-34331000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:34329600-34331000	Flanking Active TSS	HUVEC	blood vessel
41	chr2:34329600-34331600	Enhancers	HMEC	breast
42	chr2:34329600-34331800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:34329800-34330000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:34329800-34330000	Enhancers	NHEK	skin
45	chr2:34329800-34330200	Flanking Active TSS	Osteobl	bone
46	chr2:34329800-34330400	Enhancers	HSMM	muscle
47	chr2:34329800-34331000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:34330000-34330200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:34330000-34330200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr2:34330000-34330200	Flanking Active TSS	NHEK	skin

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