Variant report

Variant	nsv891285
Chromosome Location	chr8:111116148-111182246
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	chr8:111173265-111173927	HepG2	liver:	n/a	n/a
2	BATF	chr8:111173464-111173734	GM12878	blood:	n/a	chr8:111173573-111173584
3	BATF	chr8:111128379-111128613	GM12878	blood:	n/a	n/a
4	BATF	chr8:111173429-111173788	GM12878	blood:	n/a	chr8:111173573-111173584
5	CEBPB	chr8:111128628-111128903	HepG2	liver:	n/a	chr8:111128774-111128785
6	CEBPB	chr8:111180761-111180946	A549	lung:	n/a	n/a
7	CEBPB	chr8:111140081-111140301	HepG2	liver:	n/a	chr8:111140236-111140247 chr8:111140220-111140231
8	CEBPB	chr8:111133833-111134173	A549	lung:	n/a	chr8:111133993-111134004
9	CEBPB	chr8:111133808-111134191	HepG2	liver:	n/a	chr8:111133993-111134004
10	CEBPB	chr8:111130860-111131203	HepG2	liver:	n/a	chr8:111131036-111131049
11	CEBPB	chr8:111154536-111154851	IMR90	lung:	n/a	chr8:111154554-111154567 chr8:111154708-111154719
12	CEBPB	chr8:111173453-111173826	HepG2	liver:	n/a	n/a
13	CEBPB	chr8:111130832-111131219	HepG2	liver:	n/a	chr8:111131036-111131049
14	CEBPB	chr8:111133935-111134082	K562	blood:	n/a	chr8:111133993-111134004
15	CEBPB	chr8:111133794-111134166	HepG2	liver:	n/a	chr8:111133993-111134004
16	CEBPB	chr8:111125993-111126265	A549	lung:	n/a	chr8:111126145-111126156 chr8:111126143-111126154
17	CEBPB	chr8:111133834-111134178	MCF-7	breast:	n/a	chr8:111133993-111134004
18	CEBPB	chr8:111133913-111134088	H1-hESC	embryonic stem cell:	n/a	chr8:111133993-111134004
19	CEBPB	chr8:111126009-111126224	K562	blood:	n/a	chr8:111126145-111126156 chr8:111126143-111126154
20	CEBPB	chr8:111125982-111126310	HepG2	liver:	n/a	chr8:111126145-111126156 chr8:111126143-111126154
21	CEBPB	chr8:111140084-111140231	K562	blood:	n/a	chr8:111140220-111140231
22	CEBPB	chr8:111130913-111131088	HepG2	liver:	n/a	chr8:111131036-111131049
23	CEBPB	chr8:111149718-111149935	HepG2	liver:	n/a	chr8:111149779-111149790
24	CEBPB	chr8:111133898-111134083	HepG2	liver:	n/a	chr8:111133993-111134004
25	CEBPB	chr8:111154566-111154822	HepG2	liver:	n/a	chr8:111154708-111154719
26	CEBPB	chr8:111133852-111134167	IMR90	lung:	n/a	chr8:111133993-111134004
27	CEBPB	chr8:111128662-111128892	A549	lung:	n/a	chr8:111128774-111128785
28	CTCF	chr8:111166263-111166291	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chr8:111151260-111151410	NHEK	skin:	n/a	n/a
30	CTCF	chr8:111151196-111151396	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr8:111151180-111151330	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr8:111151200-111151350	BE2_C	brain:	n/a	n/a
33	CTCF	chr8:111151230-111151342	LNCaP	prostate:	n/a	n/a
34	CTCF	chr8:111151140-111151290	SAEC	small airway:	n/a	n/a
35	CTCF	chr8:111151260-111151410	MCF-7	breast:	n/a	n/a
36	CTCF	chr8:111151200-111151350	HMEC	breast:	n/a	n/a
37	CTCF	chr8:111151140-111151290	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr8:111151277-111151294	HepG2	liver:	n/a	n/a
39	CTCF	chr8:111151240-111151390	AG10803	skin:	n/a	n/a
40	CTCF	chr8:111153007-111153066	Lung_OC	lung:	n/a	n/a
41	CTCF	chr8:111151220-111151330	GM10248	blood:	n/a	n/a
42	CTCF	chr8:111151480-111151630	HMEC	breast:	n/a	n/a
43	CTCF	chr8:111151360-111151510	RPTEC	kidney:	n/a	n/a
44	CTCF	chr8:111151152-111151505	MCF-7	breast:	n/a	n/a
45	CTCF	chr8:111151320-111151470	HAc	cerebellar:	n/a	n/a
46	CTCF	chr8:111151220-111151370	HL-60	blood:	n/a	n/a
47	CTCF	chr8:111151160-111151310	HRE	kidney:	n/a	n/a
48	CTCF	chr8:111151202-111151485	MCF-7	breast:	n/a	n/a
49	CTCF	chr8:111151221-111151400	HepG2	liver:	n/a	n/a
50	CTCF	chr8:111151249-111151323	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90014072..90014862-chr8:111171720..111172332,2	MCF-7	breast:
2	chr8:111148225..111150967-chr8:111837407..111839836,2	MCF-7	breast:
3	chr8:111170132..111173027-chr8:111181087..111182741,2	K562	blood:
4	chr14:55367224..55369645-chr8:111125633..111128601,2	MCF-7	breast:
5	chr8:111147028..111149045-chr8:111188972..111191014,2	K562	blood:
6	chr8:111170132..111173027-chr8:111181087..111182741,2	K562	blood:

Variant related genes	Relation type
ENSG00000240590	TF binding region
ENSG00000131979	chromatin interactions

Extended variants
information (count: 1100 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556061711	chr8:111118295-111118296	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs150326552	chr8:111118296-111118297	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs534342126	chr8:111121037-111121038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138224087	chr8:111121084-111121085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577924486	chr8:111121085-111121086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544930914	chr8:111121089-111121090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557176863	chr8:111121104-111121105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557334915	chr8:111121174-111121175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573785253	chr8:111121331-111121332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74853540	chr8:111121341-111121342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190790779	chr8:111121346-111121347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573158579	chr8:111121374-111121375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545510408	chr8:111121647-111121648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs187233507	chr8:111121839-111121840	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs557115415	chr8:111121856-111121857	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs573871141	chr8:111121867-111121868	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs536464612	chr8:111121882-111121883	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs16880380	chr8:111121885-111121886	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138831469	chr8:111121892-111121893	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs141922508	chr8:111121924-111121925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs192032483	chr8:111121948-111121949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs549387779	chr8:111122000-111122001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs540332593	chr8:111122016-111122017	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs562040698	chr8:111125638-111125639	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs527829241	chr8:111125643-111125644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs571908884	chr8:111125726-111125727	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568900360	chr8:111125729-111125730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs148996359	chr8:111125737-111125738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs80298214	chr8:111125747-111125748	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534267791	chr8:111125757-111125758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs959658	chr8:111125758-111125759	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533177704	chr8:111125778-111125779	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182994051	chr8:111125791-111125792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs13263070	chr8:111125803-111125804	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs118103131	chr8:111125809-111125810	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537595587	chr8:111125846-111125847	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554793855	chr8:111125851-111125852	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568052796	chr8:111125920-111125921	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554329640	chr8:111125996-111125997	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs367859324	chr8:111125998-111125999	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs199609904	chr8:111126064-111126065	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533921413	chr8:111126117-111126118	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs35662462	chr8:111126286-111126287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs398009356	chr8:111126288-111126289	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs201805218	chr8:111126300-111126301	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs151097779	chr8:111126331-111126332	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs34736833	chr8:111126333-111126334	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576878846	chr8:111126347-111126348	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs75042870	chr8:111126370-111126371	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10094982	chr8:111126428-111126429	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111121000-111121400	Enhancers	Fetal Brain Male	brain
2	chr8:111130600-111130800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:111130600-111132800	Enhancers	Adipose Nuclei	Adipose
4	chr8:111130800-111131000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:111130800-111131200	Enhancers	HepG2	liver
6	chr8:111131000-111132000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:111132000-111133400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:111132800-111133600	Weak transcription	Adipose Nuclei	Adipose
9	chr8:111133400-111135400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:111133600-111134200	Enhancers	Adipose Nuclei	Adipose
11	chr8:111144400-111145800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:111145000-111145200	Enhancers	Fetal Brain Male	brain
13	chr8:111145000-111145400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:111145000-111145600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:111145000-111145600	Enhancers	Adipose Nuclei	Adipose
16	chr8:111145000-111145800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:111145000-111145800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:111145000-111145800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:111145200-111145400	Enhancers	Fetal Intestine Small	intestine
20	chr8:111145200-111145600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:111145200-111145600	Enhancers	Fetal Intestine Large	intestine
22	chr8:111145600-111147200	Weak transcription	Fetal Intestine Large	intestine
23	chr8:111147200-111148000	Enhancers	Fetal Intestine Small	intestine
24	chr8:111147200-111148600	Enhancers	Fetal Intestine Large	intestine
25	chr8:111148000-111150600	Weak transcription	Fetal Intestine Small	intestine
26	chr8:111150600-111150800	Enhancers	Fetal Intestine Small	intestine
27	chr8:111155200-111155600	Enhancers	Fetal Intestine Large	intestine
28	chr8:111155200-111155600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr8:111166600-111167600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:111166600-111167600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:111166800-111167200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr8:111166800-111168200	Enhancers	Fetal Intestine Large	intestine
33	chr8:111167000-111167200	Enhancers	Fetal Intestine Small	intestine
34	chr8:111167000-111168200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr8:111167200-111172800	Weak transcription	Fetal Intestine Small	intestine
36	chr8:111168200-111172600	Weak transcription	Fetal Intestine Large	intestine
37	chr8:111168200-111173200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr8:111168400-111170600	Enhancers	HMEC	breast
39	chr8:111168600-111169200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:111168600-111169800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:111168800-111169800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:111168800-111169800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:111169000-111169800	Enhancers	NHEK	skin
44	chr8:111169200-111173400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:111169800-111173200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:111169800-111175800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:111170600-111173200	Weak transcription	HMEC	breast
48	chr8:111172600-111173400	Enhancers	Fetal Intestine Large	intestine
49	chr8:111172800-111174200	Enhancers	Fetal Intestine Small	intestine
50	chr8:111173200-111174200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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