Variant report

Variant	nsv528704
Chromosome Location	chr2:133273008-133308636
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:133304775-133304963	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:133304875-133304890	K562	blood:	n/a	n/a
3	CEBPB	chr2:133280625-133280665	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr2:133304520-133304636	GM19239	blood:	n/a	n/a
5	CTCF	chr2:133304719-133304999	GM12878	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
6	CTCF	chr2:133304713-133305007	Medullo	brain:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
7	CTCF	chr2:133304800-133304950	AG09309	skin:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
8	CTCF	chr2:133304480-133304630	GM12865	blood:	n/a	n/a
9	CTCF	chr2:133304640-133304790	HAc	cerebellar:	n/a	n/a
10	CTCF	chr2:133304800-133304950	HAc	cerebellar:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
11	CTCF	chr2:133304760-133304910	GM12864	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
12	CTCF	chr2:133304320-133304470	HCM	heart:	n/a	n/a
13	CTCF	chr2:133304737-133305006	A549	lung:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
14	CTCF	chr2:133304742-133304973	ProgFib	skin:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
15	CTCF	chr2:133304760-133304910	NHEK	skin:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
16	CTCF	chr2:133304720-133304870	HVMF	connective:	n/a	chr2:133304857-133304870 chr2:133304857-133304866
17	CTCF	chr2:133304626-133305092	HepG2	liver:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
18	CTCF	chr2:133304629-133304684	Fibrobl	skin:	n/a	n/a
19	CTCF	chr2:133304780-133304930	Caco-2	colon:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
20	CTCF	chr2:133304780-133304930	GM12868	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
21	CTCF	chr2:133304800-133304950	HBMEC	blood vessel:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
22	CTCF	chr2:133304800-133304950	HMEC	breast:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
23	CTCF	chr2:133304694-133304983	K562	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
24	CTCF	chr2:133304800-133304950	BJ	skin:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
25	CTCF	chr2:133304607-133305024	K562	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
26	CTCF	chr2:133304748-133304985	HepG2	liver:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
27	CTCF	chr2:133304800-133304950	HVMF	connective:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
28	CTCF	chr2:133304460-133304610	K562	blood:	n/a	n/a
29	CTCF	chr2:133304780-133304930	GM12867	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
30	CTCF	chr2:133289519-133289552	GM13976	blood:	n/a	n/a
31	CTCF	chr2:133304780-133304930	AG04450	lung:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
32	CTCF	chr2:133304780-133304930	SAEC	small airway:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
33	CTCF	chr2:133304780-133304930	HepG2	liver:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
34	CTCF	chr2:133304529-133304632	GM12878	blood:	n/a	n/a
35	CTCF	chr2:133304780-133304930	GM12864	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
36	CTCF	chr2:133304760-133304910	GM12872	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
37	CTCF	chr2:133304764-133304937	GM13976	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
38	CTCF	chr2:133304800-133304950	Hela-S3	cervix:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
39	CTCF	chr2:133304804-133304927	MCF-7	breast:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
40	CTCF	chr2:133304780-133304930	GM12878	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
41	CTCF	chr2:133304785-133304966	MCF-7	breast:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
42	CTCF	chr2:133304800-133304950	HCPEpiC	choroid plexus:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
43	CTCF	chr2:133304780-133304930	NHDF-neo	bronchial:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
44	CTCF	chr2:133304760-133304910	AG09319	gingival:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
45	CTCF	chr2:133304733-133304987	GM19239	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
46	CTCF	chr2:133304780-133304930	GM12870	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
47	CTCF	chr2:133304526-133304640	GM10248	blood:	n/a	n/a
48	CTCF	chr2:133304723-133304987	HUVEC	blood vessel:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
49	CTCF	chr2:133304780-133304930	GM12801	blood:	n/a	chr2:133304854-133304872 chr2:133304856-133304877 chr2:133304857-133304870 chr2:133304857-133304866
50	CTCF	chr2:133304700-133304850	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:133304368..133305326-chr2:134601553..134602523,5	K562	blood:
2	chr2:133304876..133306446-chr2:133426520..133428307,2	MCF-7	breast:
3	chr2:133274709..133277168-chr2:133277775..133280190,2	K562	blood:
4	chr2:133304353..133304857-chr2:134601593..134602264,2	MCF-7	breast:
5	chr2:133274387..133277041-chr2:133279166..133281960,2	MCF-7	breast:
6	chr2:133272961..133273729-chr2:133339881..133340586,2	MCF-7	breast:
7	chr2:133308087..133308889-chr2:133339718..133340292,2	MCF-7	breast:
8	chr2:133304640..133305382-chr2:133928983..133929651,2	MCF-7	breast:
9	chr2:133274709..133277168-chr2:133277775..133280190,2	K562	blood:
10	chr2:133304259..133305229-chr2:133647133..133647703,2	MCF-7	breast:
11	chr2:133304031..133305145-chr2:133928594..133929580,6	MCF-7	breast:
12	chr2:133304762..133308062-chr2:133425978..133429369,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C2orf27A-10	chr2:133281190-133281509	NONHSAT074537

Variant related genes	Relation type
ENSG00000221142	TF binding region
RN7SKP103	TF binding region
ENSG00000200718	chromatin interactions
ENSG00000150551	chromatin interactions
ENSG00000221142	chromatin interactions

Extended variants
information (count: 1491 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1491 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2315596	chr2:133273008-133273009	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540226385	chr2:133273053-133273054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369417690	chr2:133273062-133273063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183410181	chr2:133273063-133273064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114541808	chr2:133273075-133273076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187481810	chr2:133273090-133273091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145494597	chr2:133273099-133273100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138023805	chr2:133273175-133273176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557854372	chr2:133273187-133273188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573205597	chr2:133273196-133273197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369045603	chr2:133273238-133273239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116569577	chr2:133273272-133273273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577107698	chr2:133273275-133273276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562168758	chr2:133273295-133273296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377214591	chr2:133273403-133273404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192398379	chr2:133273425-133273426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115223509	chr2:133273470-133273471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533436400	chr2:133273481-133273482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183135337	chr2:133273500-133273501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187810535	chr2:133273563-133273564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527300558	chr2:133273573-133273574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11690033	chr2:133273590-133273591	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs567014490	chr2:133273593-133273594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373665428	chr2:133273609-133273610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555921777	chr2:133273614-133273615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377037185	chr2:133273624-133273625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192166142	chr2:133273647-133273648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566008341	chr2:133273671-133273672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573110311	chr2:133273681-133273682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114471715	chr2:133273683-133273684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555838461	chr2:133273708-133273709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184484493	chr2:133273717-133273718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536571705	chr2:133273718-133273719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2872961	chr2:133273721-133273722	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs578133497	chr2:133273731-133273732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545346307	chr2:133273813-133273814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560840950	chr2:133273830-133273831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527250862	chr2:133273831-133273832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138840094	chr2:133273857-133273858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13008761	chr2:133273868-133273869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189556464	chr2:133273898-133273899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11888383	chr2:133273901-133273902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549866939	chr2:133273942-133273943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571326265	chr2:133273953-133273954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368483677	chr2:133273976-133273977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547336419	chr2:133273991-133273992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375144832	chr2:133274065-133274066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143956062	chr2:133274085-133274086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528325168	chr2:133274136-133274137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148207428	chr2:133274151-133274152	Enhancers Weak 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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133262000-133280400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:133266000-133275000	Weak transcription	A549	lung
3	chr2:133268200-133282800	Weak transcription	Fetal Intestine Small	intestine
4	chr2:133269400-133278400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:133271800-133274400	Enhancers	Pancreas	Pancrea
6	chr2:133272800-133273600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:133272800-133278600	Weak transcription	Fetal Heart	heart
8	chr2:133273600-133274400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:133274200-133274400	Enhancers	Placenta	Placenta
10	chr2:133274400-133280200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:133274400-133283200	Weak transcription	Pancreas	Pancrea
12	chr2:133275000-133275200	Enhancers	A549	lung
13	chr2:133275000-133275400	Enhancers	NHEK	skin
14	chr2:133275400-133278600	Weak transcription	NHEK	skin
15	chr2:133277600-133277800	Enhancers	Brain Germinal Matrix	brain
16	chr2:133278000-133279000	Weak transcription	Brain Germinal Matrix	brain
17	chr2:133278400-133280800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:133278600-133278800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:133278600-133279200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:133278600-133279200	Enhancers	Fetal Heart	heart
21	chr2:133278600-133279200	Enhancers	NHEK	skin
22	chr2:133278600-133279400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:133278600-133279600	Enhancers	HMEC	breast
24	chr2:133278600-133280600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:133278600-133281000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:133278800-133279400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:133278800-133280400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:133279000-133279200	Enhancers	Fetal Brain Female	brain
29	chr2:133279000-133280800	Enhancers	Brain Germinal Matrix	brain
30	chr2:133279000-133282600	Enhancers	Fetal Brain Male	brain
31	chr2:133279200-133280200	Weak transcription	Fetal Brain Female	brain
32	chr2:133279200-133280200	Weak transcription	NHEK	skin
33	chr2:133279200-133281600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:133279200-133283000	Weak transcription	Fetal Heart	heart
35	chr2:133279400-133280400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:133279600-133280000	Weak transcription	HMEC	breast
37	chr2:133279800-133281200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr2:133280000-133280800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:133280000-133280800	Enhancers	HMEC	breast
40	chr2:133280200-133280600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:133280200-133280600	Enhancers	NHEK	skin
42	chr2:133280200-133281000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:133280200-133281400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:133280200-133281400	Enhancers	Fetal Brain Female	brain
45	chr2:133280400-133280600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:133280400-133280800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:133280400-133281200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:133280400-133281200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:133280800-133281200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:133281200-133281400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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