Variant report

Variant	nsv875291
Chromosome Location	chr2:153251742-153339823
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:58)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:153263868..153266677-chr2:153276487..153278444,2	MCF-7	breast:
2	chr2:153265232..153268503-chr2:153268822..153271827,3	MCF-7	breast:
3	chr2:153276918..153279162-chr2:153293453..153296119,2	MCF-7	breast:
4	chr2:153320822..153322882-chr2:153325316..153328056,3	MCF-7	breast:
5	chr1:121483040..121485223-chr2:153265205..153267594,2	MCF-7	breast:
6	chr14:101052856..101053635-chr2:153278343..153278843,2	Hela-S3	cervix:
7	chr2:153031837..153033844-chr2:153276371..153278514,2	MCF-7	breast:
8	chr2:153288374..153290772-chr2:153291020..153293093,2	K562	blood:
9	chr2:153260728..153263432-chr2:153264025..153267575,5	MCF-7	breast:
10	chr2:153264190..153266541-chr2:153270663..153273065,2	K562	blood:
11	chr2:153265232..153268503-chr2:153268822..153271827,3	MCF-7	breast:
12	chr2:153297043..153301991-chr2:153303133..153306232,4	K562	blood:
13	chr2:153276442..153278166-chr2:153280321..153283147,2	K562	blood:
14	chr2:153320112..153322379-chr2:153325356..153328179,2	K562	blood:
15	chr2:153263868..153266677-chr2:153276487..153278444,2	MCF-7	breast:
16	chr2:153326388..153330903-chr2:153339849..153343861,4	MCF-7	breast:
17	chr2:153309932..153311726-chr2:153315428..153318053,2	MCF-7	breast:
18	chr2:153297043..153301991-chr2:153303133..153306232,4	K562	blood:
19	chr2:153338899..153342224-chr2:153344838..153347667,4	K562	blood:
20	chr2:153298852..153300591-chr2:153320312..153322270,2	K562	blood:
21	chr2:153320112..153322379-chr2:153325356..153328179,2	K562	blood:
22	chr2:153046496..153047091-chr2:153322438..153323156,3	MCF-7	breast:
23	chr2:153265041..153269898-chr2:153270458..153273464,4	K562	blood:
24	chr2:153279392..153282139-chr2:153288134..153290095,2	K562	blood:
25	chr2:153296273..153298770-chr2:153299861..153302070,2	K562	blood:
26	chr2:153271973..153274703-chr2:153276491..153278675,3	MCF-7	breast:
27	chr2:153301457..153305742-chr2:153308329..153310586,3	K562	blood:
28	chr2:153309932..153311726-chr2:153315428..153318053,2	MCF-7	breast:
29	chr2:153290893..153293796-chr2:153295142..153299190,4	K562	blood:
30	chr2:153288374..153290772-chr2:153291020..153293093,2	K562	blood:
31	chr2:153276918..153279162-chr2:153293453..153296119,2	MCF-7	breast:
32	chr2:153264190..153266541-chr2:153270663..153273065,2	K562	blood:
33	chr2:153292111..153294538-chr2:153295389..153297275,2	MCF-7	breast:
34	chr2:153271973..153274703-chr2:153276491..153278675,3	MCF-7	breast:
35	chr2:153260728..153263432-chr2:153264025..153267575,5	MCF-7	breast:
36	chr2:153298852..153300591-chr2:153320312..153322270,2	K562	blood:
37	chr2:153292111..153294538-chr2:153295389..153297275,2	MCF-7	breast:
38	chr2:153279392..153282139-chr2:153288134..153290095,2	K562	blood:
39	chr2:153262402..153264231-chr2:153268942..153273243,3	K562	blood:
40	chr2:153290893..153293486-chr2:153295142..153297714,3	K562	blood:
41	chr2:153030200..153033527-chr2:153319932..153322243,3	MCF-7	breast:
42	chr2:153290893..153293796-chr2:153295142..153299190,4	K562	blood:
43	chr2:153191085..153193954-chr2:153302933..153305841,2	MCF-7	breast:
44	chr2:153262402..153264231-chr2:153268942..153273243,3	K562	blood:
45	chr2:153302329..153304538-chr2:153320049..153322835,2	MCF-7	breast:
46	chr2:153313880..153316291-chr2:153320825..153322769,2	MCF-7	breast:
47	chr2:153333966..153336557-chr2:153346831..153349647,2	MCF-7	breast:
48	chr2:153328146..153330092-chr2:153417447..153419357,2	K562	blood:
49	chr2:153301457..153305742-chr2:153308329..153310586,3	K562	blood:
50	chr2:153321826..153323779-chr2:153369568..153371880,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157827	chromatin interactions
ENSG00000115145	chromatin interactions

Extended variants
information (count: 3089 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:3089 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6751576	chr2:153251742-153251743	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs564578225	chr2:153251758-153251759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs370120787	chr2:153251774-153251775	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs189498223	chr2:153251782-153251783	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs372463233	chr2:153251790-153251791	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs550242958	chr2:153251815-153251816	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs180790286	chr2:153251831-153251832	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs569113573	chr2:153251851-153251852	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs537787524	chr2:153251911-153251912	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs548483334	chr2:153251962-153251963	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs139764473	chr2:153252013-153252014	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs533741622	chr2:153252088-153252089	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs185193833	chr2:153252100-153252101	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs576571568	chr2:153252142-153252143	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs74808842	chr2:153252218-153252219	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs78254888	chr2:153252278-153252279	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs369193355	chr2:153252279-153252280	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs189805159	chr2:153252291-153252292	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs542128790	chr2:153252368-153252369	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs4311023	chr2:153252386-153252387	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs562407692	chr2:153252407-153252408	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs113812707	chr2:153252435-153252436	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs115608318	chr2:153252484-153252485	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs564566246	chr2:153252494-153252495	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs533491127	chr2:153252523-153252524	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs529698811	chr2:153252543-153252544	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs181159860	chr2:153252558-153252559	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs367656169	chr2:153252589-153252590	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs186599620	chr2:153252610-153252611	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs529312347	chr2:153252611-153252612	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs548249688	chr2:153252630-153252631	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs548141391	chr2:153252658-153252659	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs568353674	chr2:153252667-153252668	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs114198356	chr2:153252679-153252680	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs547237032	chr2:153252684-153252685	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs6740909	chr2:153252721-153252722	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183848599	chr2:153252735-153252736	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs371856755	chr2:153252785-153252786	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs78691655	chr2:153252815-153252816	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs556245512	chr2:153252820-153252821	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs143761399	chr2:153252851-153252852	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs535438682	chr2:153252880-153252881	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs553652920	chr2:153252886-153252887	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs147188932	chr2:153252890-153252891	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs139552580	chr2:153252941-153252942	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs533006824	chr2:153252983-153252984	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs149725416	chr2:153253022-153253023	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs376864052	chr2:153253036-153253037	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs188738738	chr2:153253070-153253071	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs552883203	chr2:153253079-153253080	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	17229543	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:3173 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153226200-153251800	Weak transcription	HSMMtube	muscle
2	chr2:153229200-153252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:153233800-153255400	Weak transcription	NHEK	skin
4	chr2:153237400-153255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:153237400-153255400	Weak transcription	HMEC	breast
6	chr2:153238600-153258600	Weak transcription	Left Ventricle	heart
7	chr2:153241200-153255400	Weak transcription	Pancreas	Pancrea
8	chr2:153242800-153252600	Weak transcription	A549	lung
9	chr2:153243400-153252600	Weak transcription	Fetal Brain Female	brain
10	chr2:153243800-153252000	Weak transcription	Fetal Lung	lung
11	chr2:153245000-153251800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:153246600-153266600	Enhancers	Brain Substantia Nigra	brain
13	chr2:153247000-153251800	Enhancers	Brain Anterior Caudate	brain
14	chr2:153247000-153257800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:153247200-153255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:153247400-153252600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:153247400-153252600	Weak transcription	Fetal Stomach	stomach
18	chr2:153247400-153255400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
20	chr2:153247800-153258800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:153248200-153251800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:153248800-153253600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:153249000-153252400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:153249000-153252600	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:153249200-153252600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:153249200-153253800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:153249200-153254200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:153249400-153253200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:153249600-153255400	Weak transcription	Gastric	stomach
30	chr2:153249600-153255400	Weak transcription	Lung	lung
31	chr2:153249600-153259000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:153250000-153252000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr2:153250000-153252400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:153250000-153253200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:153250000-153254200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:153250200-153252600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:153250400-153257600	Weak transcription	HepG2	liver
38	chr2:153250600-153252400	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:153250600-153252600	Enhancers	Brain Hippocampus Middle	brain
40	chr2:153250800-153251800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:153250800-153251800	Enhancers	NHDF-Ad	bronchial
42	chr2:153250800-153252000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:153250800-153253600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:153250800-153258800	Weak transcription	Small Intestine	intestine
45	chr2:153251200-153252200	Enhancers	Brain Angular Gyrus	brain
46	chr2:153251200-153252200	Enhancers	Rectal Smooth Muscle	rectum
47	chr2:153251200-153252400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:153251200-153252600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:153251200-153253800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:153251200-153254000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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