Variant report

Variant	nsv900877
Chromosome Location	chr13:90847196-90901280
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	ATF1	chr13:90849956-90850603	K562	blood:	n/a	n/a
2	ATF1	chr13:90849252-90849459	K562	blood:	n/a	n/a
3	ATF1	chr13:90862596-90862633	K562	blood:	n/a	n/a
4	BACH1	chr13:90851375-90851471	K562	blood:	n/a	n/a
5	BACH1	chr13:90900411-90900747	K562	blood:	n/a	n/a
6	BACH1	chr13:90854352-90854549	K562	blood:	n/a	n/a
7	BACH1	chr13:90858855-90859401	K562	blood:	n/a	n/a
8	BACH1	chr13:90884209-90884368	K562	blood:	n/a	n/a
9	BATF	chr13:90849933-90850288	GM12878	blood:	n/a	chr13:90850211-90850221
10	BHLHE40	chr13:90853562-90854662	K562	blood:	n/a	n/a
11	BHLHE40	chr13:90899928-90900047	K562	blood:	n/a	n/a
12	BHLHE40	chr13:90858651-90858998	K562	blood:	n/a	n/a
13	CCNT2	chr13:90881441-90881827	K562	blood:	n/a	n/a
14	CCNT2	chr13:90894919-90895072	K562	blood:	n/a	n/a
15	CCNT2	chr13:90896882-90897298	K562	blood:	n/a	n/a
16	CEBPB	chr13:90884569-90884771	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr13:90856732-90857160	K562	blood:	n/a	chr13:90856833-90856844
18	CEBPB	chr13:90856783-90856971	HepG2	liver:	n/a	chr13:90856833-90856844
19	CEBPB	chr13:90890824-90890837	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr13:90899250-90899468	K562	blood:	n/a	chr13:90899378-90899389
21	CEBPB	chr13:90856757-90856903	A549	lung:	n/a	chr13:90856833-90856844
22	CEBPB	chr13:90899234-90899519	HepG2	liver:	n/a	chr13:90899378-90899389
23	CEBPB	chr13:90899320-90899499	A549	lung:	n/a	chr13:90899378-90899389
24	CTCF	chr13:90898907-90899414	K562	blood:	n/a	n/a
25	CTCF	chr13:90886660-90886810	RPTEC	kidney:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
26	CTCF	chr13:90886660-90886810	HMF	breast:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
27	CTCF	chr13:90886646-90886778	HepG2	liver:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
28	CTCF	chr13:90886540-90886690	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr13:90886600-90886750	MCF-7	breast:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
30	CTCF	chr13:90886600-90886750	AG09309	skin:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
31	CTCF	chr13:90886700-90886850	AG09319	gingival:	n/a	n/a
32	CTCF	chr13:90886640-90886790	HCPEpiC	choroid plexus:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
33	CTCF	chr13:90883564-90883882	MCF-7	breast:	n/a	n/a
34	CTCF	chr13:90883596-90883710	MCF-7	breast:	n/a	n/a
35	CTCF	chr13:90886620-90886770	HRE	kidney:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
36	CTCF	chr13:90883668-90883683	HepG2	liver:	n/a	n/a
37	CTCF	chr13:90883652-90883709	A549	lung:	n/a	n/a
38	CTCF	chr13:90886720-90886870	MCF-7	breast:	n/a	n/a
39	CTCF	chr13:90883741-90883805	NHEK	skin:	n/a	n/a
40	CTCF	chr13:90886640-90886790	HA-sp	spinal cord:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
41	CTCF	chr13:90886660-90886810	HepG2	liver:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
42	CTCF	chr13:90886686-90886756	Gliobla	brain:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
43	CTCF	chr13:90886575-90886822	GM12878	blood:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
44	CTCF	chr13:90883746-90883832	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr13:90886640-90886790	Caco-2	colon:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
46	CTCF	chr13:90886580-90886730	AG04450	lung:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
47	CTCF	chr13:90886620-90886770	HCPEpiC	choroid plexus:	n/a	chr13:90886699-90886712 chr13:90886696-90886714
48	CTCF	chr13:90883742-90883834	GM19238	blood:	n/a	n/a
49	CTCF	chr13:90883823-90883825	GM19239	blood:	n/a	n/a
50	CTCF	chr13:90886574-90886831	HepG2	liver:	n/a	chr13:90886699-90886712 chr13:90886696-90886714

No.	Distal block	Cell Line	Cell type
1	chr12:53342744..53343286-chr13:90882139..90882645,2	Hela-S3	cervix:
2	chr13:90892719..90895219-chr13:90897617..90899143,2	K562	blood:
3	chr13:90845814..90848720-chr13:90849187..90852839,3	K562	blood:
4	chr13:90864203..90866392-chr13:90874475..90876963,2	K562	blood:
5	chr13:90883097..90884825-chr13:90899130..90901723,2	K562	blood:
6	chr13:90849736..90852202-chr13:90855952..90858103,3	K562	blood:
7	chr13:90875402..90877312-chr13:90877862..90879881,2	K562	blood:
8	chr13:90892719..90894742-chr13:90897643..90900031,2	K562	blood:
9	chr13:90848833..90851236-chr13:90855883..90857949,2	K562	blood:
10	chr13:90855976..90857785-chr13:90859917..90862023,2	K562	blood:
11	chr13:90862129..90863023-chr5:145846043..145846583,2	MCF-7	breast:
12	chr13:90848833..90851236-chr13:90855883..90857949,2	K562	blood:
13	chr13:90845814..90848720-chr13:90849187..90852839,3	K562	blood:
14	chr13:90855976..90857785-chr13:90859917..90862023,2	K562	blood:
15	chr13:90849736..90852202-chr13:90855952..90858103,3	K562	blood:
16	chr13:90840334..90842479-chr13:90849460..90851751,2	K562	blood:
17	chr13:90875402..90877312-chr13:90877862..90879881,2	K562	blood:
18	chr13:90864203..90866392-chr13:90874475..90876963,2	K562	blood:
19	chr13:90892719..90895219-chr13:90897617..90899143,2	K562	blood:
20	chr13:90892719..90894742-chr13:90897643..90900031,2	K562	blood:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-622	chr13:90883496-90883516	MIMAT0003291

Variant related genes	Relation type
KRT18P27	TF binding region
MIR622	TF binding region
ENSG00000111057	chromatin interactions
ENSG00000207858	chromatin interactions
KRAS	Mature miRNA region

Extended variants
information (count: 696 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:696 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544516284	chr13:90849611-90849612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78703722	chr13:90849658-90849659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3037146	chr13:90849686-90849687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530079244	chr13:90849720-90849721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150022161	chr13:90849816-90849817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560413762	chr13:90849841-90849842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527763143	chr13:90849843-90849844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552361188	chr13:90849860-90849861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551456858	chr13:90849861-90849862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183018882	chr13:90849940-90849941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187594496	chr13:90849955-90849956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537214829	chr13:90850000-90850001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550146576	chr13:90850020-90850021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145225559	chr13:90850036-90850037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370329093	chr13:90850044-90850045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535478795	chr13:90850063-90850064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557392424	chr13:90850069-90850070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553708694	chr13:90850125-90850126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565513522	chr13:90850193-90850194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538744079	chr13:90850194-90850195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192541145	chr13:90850225-90850226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567977079	chr13:90850294-90850295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370165967	chr13:90850297-90850298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561952493	chr13:90850327-90850328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544395014	chr13:90850335-90850336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9301657	chr13:90850355-90850356	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574774754	chr13:90850362-90850363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7319848	chr13:90850382-90850383	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564083231	chr13:90850399-90850400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185606617	chr13:90850445-90850446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572069494	chr13:90850541-90850542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9301658	chr13:90850542-90850543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187624245	chr13:90850543-90850544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531577005	chr13:90850549-90850550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549985735	chr13:90850554-90850555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142541038	chr13:90850579-90850580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529227366	chr13:90850588-90850589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557844726	chr13:90850631-90850632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547342616	chr13:90850654-90850655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565681277	chr13:90850661-90850662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539020486	chr13:90850674-90850675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551497466	chr13:90850741-90850742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569400870	chr13:90850769-90850770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538082240	chr13:90850778-90850779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78875939	chr13:90850813-90850814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368307963	chr13:90850843-90850844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146707426	chr13:90850868-90850869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543573427	chr13:90850986-90850987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139363201	chr13:90850994-90850995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572407744	chr13:90851046-90851047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90849600-90850600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:90850600-90853000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:90853000-90854400	Enhancers	Fetal Kidney	kidney
4	chr13:90853000-90855600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:90853400-90853800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:90853400-90853800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr13:90853400-90855200	Enhancers	Fetal Heart	heart
8	chr13:90853600-90854000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:90853600-90854000	Enhancers	Fetal Lung	lung
10	chr13:90853600-90854400	Enhancers	Left Ventricle	heart
11	chr13:90853600-90854400	Enhancers	Right Atrium	heart
12	chr13:90853600-90854600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:90853600-90854600	Enhancers	Colon Smooth Muscle	Colon
14	chr13:90853800-90854000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr13:90853800-90854400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:90854000-90854200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr13:90854000-90857000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:90854200-90854400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr13:90854400-90854800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:90854400-90854800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr13:90854400-90856600	Weak transcription	Right Atrium	heart
22	chr13:90854600-90857000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:90857000-90857800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:90857000-90857800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:90857000-90858200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:90857400-90858400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr13:90876600-90877200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:90882600-90882800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr13:90884400-90885000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr13:90884600-90885000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr13:90884600-90885000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr13:90884600-90885000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr13:90890400-90891000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr13:90890600-90891000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr13:90890600-90891200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:90890600-90891200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr13:90890600-90891200	Enhancers	HMEC	breast
38	chr13:90890600-90891400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr13:90890800-90891000	Enhancers	Lung	lung
40	chr13:90890800-90891200	Enhancers	H9 Cell Line	embryonic stem cell
41	chr13:90890800-90891200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:90890800-90891200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:90890800-90891200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr13:90890800-90891200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr13:90892800-90893000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr13:90898800-90899400	Enhancers	Fetal Brain Male	brain
47	chr13:90899000-90899400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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