Variant report

Variant	nsv901882
Chromosome Location	chr14:47358536-47395801
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	CEBPB	chr14:47366543-47366799	H1-hESC	embryonic stem cell:	n/a	chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680 chr14:47366671-47366680
2	CEBPB	chr14:47393718-47394047	IMR90	lung:	n/a	chr14:47393873-47393882 chr14:47393873-47393884 chr14:47393871-47393882 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882
3	CEBPB	chr14:47362090-47362394	IMR90	lung:	n/a	chr14:47362259-47362270
4	CEBPB	chr14:47366501-47366839	IMR90	lung:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
5	CEBPB	chr14:47366550-47366832	A549	lung:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
6	CEBPB	chr14:47393713-47394028	HepG2	liver:	n/a	chr14:47393873-47393882 chr14:47393873-47393884 chr14:47393871-47393882 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882
7	CEBPB	chr14:47362166-47362402	A549	lung:	n/a	chr14:47362259-47362270
8	CEBPB	chr14:47393758-47394044	A549	lung:	n/a	chr14:47393873-47393882 chr14:47393873-47393884 chr14:47393871-47393882 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882
9	CEBPB	chr14:47362170-47362344	H1-hESC	embryonic stem cell:	n/a	chr14:47362259-47362270
10	CEBPB	chr14:47362102-47362436	HepG2	liver:	n/a	chr14:47362259-47362270
11	CEBPB	chr14:47393770-47394030	H1-hESC	embryonic stem cell:	n/a	chr14:47393873-47393882 chr14:47393873-47393884 chr14:47393871-47393882 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882 chr14:47393871-47393884 chr14:47393873-47393882
12	CEBPB	chr14:47380994-47381232	HepG2	liver:	n/a	n/a
13	CEBPB	chr14:47366505-47366846	HepG2	liver:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
14	CTCF	chr14:47389880-47390030	GM12864	blood:	n/a	n/a
15	CTCF	chr14:47385065-47385094	GM20000	blood:	n/a	n/a
16	CTCF	chr14:47389880-47390030	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr14:47389940-47390090	GM12866	blood:	n/a	n/a
18	CTCF	chr14:47389820-47389970	GM12874	blood:	n/a	n/a
19	CTCF	chr14:47389939-47389992	GM20000	blood:	n/a	n/a
20	CTCF	chr14:47389740-47389890	HAc	cerebellar:	n/a	n/a
21	CTCF	chr14:47389920-47390070	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr14:47393059-47393085	HUVEC	blood vessel:	n/a	chr14:47393063-47393084
23	CTCF	chr14:47389920-47390070	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:47389680-47389830	GM12864	blood:	n/a	n/a
25	CTCF	chr14:47389880-47390030	RPTEC	kidney:	n/a	n/a
26	CTCF	chr14:47389980-47390130	HMF	breast:	n/a	n/a
27	CTCF	chr14:47389800-47389950	GM12873	blood:	n/a	n/a
28	CTCF	chr14:47389920-47390070	GM12872	blood:	n/a	n/a
29	CTCF	chr14:47389800-47389950	HCT-116	colon:	n/a	n/a
30	CTCF	chr14:47389840-47389990	HEK293	kidney:	n/a	n/a
31	CTCF	chr14:47389840-47389990	HL-60	blood:	n/a	n/a
32	CTCF	chr14:47389800-47389950	GM12878	blood:	n/a	n/a
33	CTCF	chr14:47389780-47389930	BE2_C	brain:	n/a	n/a
34	CTCF	chr14:47389940-47390090	RPTEC	kidney:	n/a	n/a
35	CTCF	chr14:47393021-47393101	LNCaP	prostate:	n/a	chr14:47393063-47393084
36	CTCF	chr14:47389860-47390010	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr14:47389860-47390010	AG10803	skin:	n/a	n/a
38	CTCF	chr14:47392989-47393116	Medullo	brain:	n/a	chr14:47393063-47393084
39	CTCF	chr14:47389840-47389990	GM12875	blood:	n/a	n/a
40	CTCF	chr14:47389840-47389990	BE2_C	brain:	n/a	n/a
41	CTCF	chr14:47389880-47390030	HRE	kidney:	n/a	n/a
42	CTCF	chr14:47381169-47381171	MCF-7	breast:	n/a	n/a
43	CTCF	chr14:47389860-47390010	GM12871	blood:	n/a	n/a
44	CTCF	chr14:47393000-47393150	HCPEpiC	choroid plexus:	n/a	chr14:47393063-47393084
45	CTCF	chr14:47389900-47390050	HRE	kidney:	n/a	n/a
46	CTCF	chr14:47392940-47393090	HRPEpiC	eye:	n/a	chr14:47393063-47393084
47	CTCF	chr14:47389740-47389890	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr14:47393020-47393170	BE2_C	brain:	n/a	chr14:47393063-47393084
49	E2F4	chr14:47393618-47393846	MCF10A-Er-Src	breast:	n/a	n/a
50	EBF1	chr14:47393955-47394253	GM12878	blood:	n/a	chr14:47394146-47394157

Variant related genes	Relation type
MDGA2	TF binding region

Extended variants
information (count: 443 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78569450	chr14:47363815-47363816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146396567	chr14:47363895-47363896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139741648	chr14:47363926-47363927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114811687	chr14:47363928-47363929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61991421	chr14:47364025-47364026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560360689	chr14:47364060-47364061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572449403	chr14:47364173-47364174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182542778	chr14:47364182-47364183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185874231	chr14:47364233-47364234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144428477	chr14:47364241-47364242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550226146	chr14:47364258-47364259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550069676	chr14:47364313-47364314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78161367	chr14:47364361-47364362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141340502	chr14:47364447-47364448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547499870	chr14:47364544-47364545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565637776	chr14:47364559-47364560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202010645	chr14:47364563-47364564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3007100	chr14:47364578-47364579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551100142	chr14:47364618-47364619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569588715	chr14:47364643-47364644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532668525	chr14:47364656-47364657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142371030	chr14:47364657-47364658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34195775	chr14:47364662-47364663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535650390	chr14:47364687-47364688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551574799	chr14:47364695-47364696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554278695	chr14:47364699-47364700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191122295	chr14:47364712-47364713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571358088	chr14:47364734-47364735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35689607	chr14:47364789-47364790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566029669	chr14:47364790-47364791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182832262	chr14:47364798-47364799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576472048	chr14:47364801-47364802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371530057	chr14:47364802-47364803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376691169	chr14:47364816-47364817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553775103	chr14:47364817-47364818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561944059	chr14:47364847-47364848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529150867	chr14:47364860-47364861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540860004	chr14:47364866-47364867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559459145	chr14:47364879-47364880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532890198	chr14:47364884-47364885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369933881	chr14:47364886-47364887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551429920	chr14:47364887-47364888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187047074	chr14:47364937-47364938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12892410	chr14:47364961-47364962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs559921197	chr14:47365021-47365022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375184624	chr14:47365082-47365083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368406706	chr14:47365100-47365101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190290120	chr14:47365121-47365122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568405556	chr14:47365123-47365124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529016671	chr14:47365128-47365129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	19907438	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47363800-47366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:47371800-47372400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr14:47371800-47372600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:47372200-47372600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:47372400-47376800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:47372600-47376800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:47376800-47377400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:47376800-47377400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:47376800-47377400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr14:47376800-47377400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr14:47384800-47385200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr14:47391400-47392000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr14:47391600-47393000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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