Variant report

Variant	nsv872747
Chromosome Location	chr1:189887715-190009701
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	BATF	chr1:189991830-189992153	GM12878	blood:	n/a	chr1:189992041-189992052 chr1:189992005-189992016
2	BATF	chr1:189991842-189992164	GM12878	blood:	n/a	chr1:189992041-189992052 chr1:189992005-189992016
3	BCL3	chr1:189969460-189970122	A549	lung:	n/a	chr1:189969632-189969641 chr1:189969514-189969523
4	BCL3	chr1:189988838-189989301	A549	lung:	n/a	n/a
5	CBX3	chr1:189991798-189992237	HCT-116	colon:	n/a	n/a
6	CEBPB	chr1:189928876-189929095	HepG2	liver:	n/a	n/a
7	CEBPB	chr1:189966532-189966826	HepG2	liver:	n/a	chr1:189966685-189966696
8	CEBPB	chr1:189969426-189970047	A549	lung:	n/a	n/a
9	CEBPB	chr1:189931285-189931729	Hela-S3	cervix:	n/a	chr1:189931477-189931488
10	CEBPB	chr1:189966602-189966802	K562	blood:	n/a	chr1:189966685-189966696
11	CEBPB	chr1:189931336-189931662	H1-hESC	embryonic stem cell:	n/a	chr1:189931477-189931488
12	CEBPB	chr1:189951723-189951923	IMR90	lung:	n/a	chr1:189951847-189951858
13	CEBPB	chr1:189931271-189931675	ECC-1	luminal epithelium:	n/a	chr1:189931477-189931488
14	CEBPB	chr1:189931289-189931645	ECC-1	luminal epithelium:	n/a	chr1:189931477-189931488
15	CEBPB	chr1:189931210-189931754	A549	lung:	n/a	chr1:189931477-189931488
16	CEBPB	chr1:189931343-189931650	K562	blood:	n/a	chr1:189931477-189931488
17	CEBPB	chr1:189988895-189989826	A549	lung:	n/a	chr1:189989433-189989445 chr1:189989431-189989448
18	CEBPB	chr1:189966592-189966813	MCF-7	breast:	n/a	chr1:189966685-189966696
19	CEBPB	chr1:189966553-189966843	A549	lung:	n/a	chr1:189966685-189966696
20	CEBPB	chr1:190001836-190002036	A549	lung:	n/a	n/a
21	CEBPB	chr1:189931297-189931650	HepG2	liver:	n/a	chr1:189931477-189931488
22	CEBPB	chr1:189931269-189931628	MCF-7	breast:	n/a	chr1:189931477-189931488
23	CEBPB	chr1:189966558-189966824	H1-hESC	embryonic stem cell:	n/a	chr1:189966685-189966696
24	CEBPB	chr1:189929954-189930268	IMR90	lung:	n/a	n/a
25	CEBPB	chr1:189928860-189929131	IMR90	lung:	n/a	n/a
26	CEBPB	chr1:189969579-189969895	A549	lung:	n/a	n/a
27	CEBPB	chr1:189911074-189911533	A549	lung:	n/a	n/a
28	CEBPB	chr1:189931361-189931770	HCT-116	colon:	n/a	chr1:189931477-189931488
29	CEBPB	chr1:189931320-189931616	MCF-7	breast:	n/a	chr1:189931477-189931488
30	CEBPB	chr1:189931188-189931759	HCT-116	colon:	n/a	chr1:189931477-189931488
31	CEBPB	chr1:189931301-189931644	A549	lung:	n/a	chr1:189931477-189931488
32	CEBPB	chr1:189951683-189951980	HepG2	liver:	n/a	chr1:189951847-189951858
33	CEBPB	chr1:189939563-189940466	ECC-1	luminal epithelium:	n/a	n/a
34	CEBPB	chr1:189931325-189931700	A549	lung:	n/a	chr1:189931477-189931488
35	CEBPB	chr1:189969527-189969898	IMR90	lung:	n/a	n/a
36	CEBPB	chr1:189984024-189984217	IMR90	lung:	n/a	n/a
37	CEBPB	chr1:189931260-189931885	IMR90	lung:	n/a	chr1:189931477-189931488
38	CEBPB	chr1:189966523-189966870	IMR90	lung:	n/a	chr1:189966685-189966696
39	CEBPB	chr1:189911095-189911381	A549	lung:	n/a	n/a
40	CHD2	chr1:189940977-189941029	Hela-S3	cervix:	n/a	n/a
41	CREB1	chr1:189988905-189989150	A549	lung:	n/a	n/a
42	CREB1	chr1:189988862-189989160	A549	lung:	n/a	n/a
43	CTCF	chr1:189946440-189946590	GM12864	blood:	n/a	n/a
44	CTCF	chr1:189933840-189933990	HCT-116	colon:	n/a	n/a
45	CTCF	chr1:189946461-189946570	GM12878	blood:	n/a	n/a
46	CTCF	chr1:189946480-189946630	GM06990	blood:	n/a	n/a
47	CTCF	chr1:189933880-189934030	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr1:189946474-189946548	GM19238	blood:	n/a	n/a
49	CTCF	chr1:189946440-189946590	GM12874	blood:	n/a	n/a
50	CTCF	chr1:189946463-189946546	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:189923172..189925454-chr1:189927431..189929095,2	K562	blood:
2	chr1:189899347..189901205-chr1:189918005..189920869,2	MCF-7	breast:
3	chr1:189899347..189901205-chr1:189918005..189920869,2	MCF-7	breast:
4	chr1:189955705..189957975-chr1:189976972..189978590,2	K562	blood:
5	chr1:189932756..189935546-chr1:189936578..189938193,2	MCF-7	breast:
6	chr1:189922474..189925578-chr1:189926076..189929394,4	MCF-7	breast:
7	chr1:189922474..189925578-chr1:189926076..189929394,4	MCF-7	breast:
8	chr1:189939529..189941877-chr13:27345731..27348287,2	MCF-7	breast:
9	chr1:189932756..189935546-chr1:189936578..189938193,2	MCF-7	breast:
10	chr1:189923172..189925454-chr1:189927431..189929095,2	K562	blood:
11	chr1:189955705..189957975-chr1:189976972..189978590,2	K562	blood:
12	chr1:189898658..189901236-chr1:189902072..189905289,4	MCF-7	breast:
13	chr1:189898658..189901236-chr1:189902072..189905289,4	MCF-7	breast:
14	chr1:189897967..189900169-chr1:190054489..190056512,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-5	chr1:189958700-189962227	NONHSAT008489

Variant related genes	Relation type
ENSG00000230987	TF binding region

Extended variants
information (count: 1421 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1421 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552685380	chr1:189890412-189890413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376460175	chr1:189890427-189890428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531739341	chr1:189890432-189890433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146235272	chr1:189890455-189890456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6689795	chr1:189890467-189890468	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536414631	chr1:189890517-189890518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191833687	chr1:189890571-189890572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79164860	chr1:189890621-189890622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563179881	chr1:189890644-189890645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113521835	chr1:189890658-189890659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575085908	chr1:189890674-189890675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184270191	chr1:189890678-189890679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190187042	chr1:189890687-189890688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574776840	chr1:189890724-189890725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138132776	chr1:189890733-189890734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142625513	chr1:189890738-189890739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2203668	chr1:189890740-189890741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77301320	chr1:189890769-189890770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2203667	chr1:189890796-189890797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139462735	chr1:189890802-189890803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116236962	chr1:189890838-189890839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562095548	chr1:189890856-189890857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555277444	chr1:189890869-189890870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576717634	chr1:189890875-189890876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149699569	chr1:189890914-189890915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546960369	chr1:189890926-189890927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115393511	chr1:189890932-189890933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77376634	chr1:189890951-189890952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547512539	chr1:189890962-189890963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs193244402	chr1:189890975-189890976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565436004	chr1:189890999-189891000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76410111	chr1:189891003-189891004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541097828	chr1:189891110-189891111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537578878	chr1:189891115-189891116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs386637889	chr1:189891120-189891121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185411340	chr1:189891129-189891130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs207460831	chr1:189891172-189891173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567763536	chr1:189891174-189891175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534212547	chr1:189891187-189891188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536435295	chr1:189891194-189891195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549678176	chr1:189891217-189891218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577319060	chr1:189891242-189891243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190656958	chr1:189891262-189891263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146463873	chr1:189891270-189891271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546397851	chr1:189891283-189891284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556346280	chr1:189891338-189891339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576462863	chr1:189891353-189891354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542368691	chr1:189891373-189891374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73053517	chr1:189891392-189891393	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs79399445	chr1:189891399-189891400	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189890400-189890800	Enhancers	H9 Cell Line	embryonic stem cell
2	chr1:189890400-189890800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr1:189890400-189891000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:189890400-189891200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:189890600-189891000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:189890600-189891000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:189890800-189891400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:189898600-189899000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:189898600-189899200	Enhancers	Pancreas	Pancrea
10	chr1:189898800-189899000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:189898800-189899200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:189910800-189911400	Enhancers	A549	lung
13	chr1:189918800-189919200	Enhancers	A549	lung
14	chr1:189929600-189931800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr1:189929800-189930400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:189929800-189930400	Enhancers	Colon Smooth Muscle	Colon
17	chr1:189929800-189930400	Enhancers	Fetal Lung	lung
18	chr1:189929800-189930400	Enhancers	Fetal Muscle Leg	muscle
19	chr1:189929800-189930400	Enhancers	Fetal Stomach	stomach
20	chr1:189929800-189930400	Enhancers	Rectal Smooth Muscle	rectum
21	chr1:189929800-189930400	Enhancers	Stomach Smooth Muscle	stomach
22	chr1:189930000-189930200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:189930400-189931400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:189931000-189931800	Enhancers	NH-A	brain
25	chr1:189931000-189932000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:189931000-189932000	Enhancers	Fetal Intestine Small	intestine
27	chr1:189931200-189931800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:189931400-189931800	Enhancers	Aorta	Aorta
29	chr1:189931600-189931800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:189931600-189932000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:189931600-189932000	Enhancers	Fetal Intestine Large	intestine
32	chr1:189939000-189939800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:189939000-189940200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr1:189939000-189940400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:189939000-189940400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:189939200-189940000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr1:189939200-189940000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr1:189939200-189940200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:189939200-189940200	Enhancers	Fetal Intestine Small	intestine
40	chr1:189939400-189939800	Enhancers	Fetal Kidney	kidney
41	chr1:189939400-189940400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr1:189940400-189940800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:189940800-189942600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr1:189951600-189952200	Enhancers	Fetal Intestine Small	intestine
45	chr1:189951800-189952000	Enhancers	Fetal Intestine Large	intestine
46	chr1:189952000-189952600	Weak transcription	Fetal Intestine Large	intestine
47	chr1:189952200-189952600	Weak transcription	Fetal Intestine Small	intestine
48	chr1:189952600-189953800	Enhancers	Fetal Intestine Large	intestine
49	chr1:189952600-189954000	Enhancers	Fetal Intestine Small	intestine
50	chr1:189952800-189953800	Enhancers	Duodenum Mucosa	Duodenum

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