Variant report

Variant	nsv976252
Chromosome Location	chr13:90567002-90602202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:78)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:90583692..90586688-chr19:17578817..17580337,4	K562	blood:
2	chr10:119001200..119002700-chr13:90585187..90586694,2	MCF-7	breast:
3	chr13:90583709..90586687-chr17:41393021..41394646,2	MCF-7	breast:
4	chr13:90584688..90585192-chr3:73159622..73160587,2	MCF-7	breast:
5	chr13:90590871..90593494-chr13:90596073..90598011,2	K562	blood:
6	chr10:103124609..103125130-chr13:90584687..90585213,3	HCT-116	colon:
7	chr13:90584692..90585216-chr5:32541862..32542382,2	HCT-116	colon:
8	chr13:90583716..90586691-chr20:18805537..18807037,2	K562	blood:
9	chr13:90590871..90593494-chr13:90596073..90598011,2	K562	blood:
10	chr13:90585208..90586716-chr17:41380446..41383729,6	MCF-7	breast:
11	chr13:90583690..90586712-chr3:73158444..73161594,14	K562	blood:
12	chr13:90567117..90569538-chr13:90570624..90572320,2	K562	blood:
13	chr11:44849726..44850247-chr13:90584692..90585212,3	HCT-116	colon:
14	chr1:160082468..160083985-chr13:90583692..90585215,3	K562	blood:
15	chr13:90573050..90575053-chr13:90601953..90604544,2	K562	blood:
16	chr11:10961117..10964097-chr13:90585214..90586717,2	K562	blood:
17	chr13:90585193..90585714-chr17:41465692..41466303,3	MCF-7	breast:
18	chr13:90583688..90586717-chr17:41462314..41468297,22	MCF-7	breast:
19	chr1:212995878..212997398-chr13:90583697..90585207,2	K562	blood:
20	chr10:103124607..103126112-chr13:90583689..90585192,2	MCF-7	breast:
21	chr11:62607620..62610723-chr13:90583687..90586713,24	K562	blood:
22	chr13:90585211..90585713-chr17:41465718..41466279,2	MCF-7	breast:
23	chr11:62609126..62609718-chr13:90584688..90585208,7	MCF-7	breast:
24	chr10:103124610..103126130-chr13:90583687..90585216,5	K562	blood:
25	chr13:90583708..90585215-chr2:205937243..205938743,2	K562	blood:
26	chr13:90584696..90585208-chr8:145016084..145016604,2	HCT-116	colon:
27	chr11:62609117..62609700-chr13:90584687..90585217,12	HCT-116	colon:
28	chr11:62609120..62610720-chr13:90583687..90586690,7	MCF-7	breast:
29	chr13:90584687..90585215-chr16:19462956..19463476,2	HCT-116	colon:
30	chr13:90583687..90586717-chr17:41462292..41467922,26	K562	blood:
31	chr13:90583687..90586714-chr17:41380307..41383673,9	K562	blood:
32	chr13:90583692..90586708-chr3:73158452..73160131,4	MCF-7	breast:
33	chr13:90593285..90595272-chr13:90597224..90598967,2	K562	blood:
34	chr1:160082466..160083968-chr13:90583692..90585197,2	K562	blood:
35	chr13:90593285..90595272-chr13:90597224..90598967,2	K562	blood:
36	chr13:90583688..90585209-chr3:73158523..73160592,3	MCF-7	breast:
37	chr13:90585195..90585712-chr17:41465633..41466487,2	HCT-116	colon:
38	chr13:90576825..90578329-chr13:90580661..90582682,2	K562	blood:
39	chr13:90576825..90578329-chr13:90580661..90582682,2	K562	blood:
40	chr13:90583692..90586688-chrX:77930321..77933319,2	K562	blood:
41	chr11:62609121..62610646-chr13:90583689..90585209,3	MCF-7	breast:
42	chr13:90585188..90585713-chr17:41465840..41466365,3	NB4	blood:
43	chr13:90583689..90585208-chr17:41444061..41445919,3	K562	blood:
44	chr13:90584688..90585211-chr3:73159599..73160120,2	Hela-S3	cervix:
45	chr11:62608617..62609723-chr13:90584689..90585209,9	Hela-S3	cervix:
46	chr13:90485791..90488603-chr13:90572909..90574724,2	K562	blood:
47	chr10:103124608..103126131-chr13:90583695..90586710,5	K562	blood:
48	chr13:90584690..90585208-chr3:73160089..73160610,2	NB4	blood:
49	chr13:90583690..90585207-chr17:41380687..41383680,3	MCF-7	breast:
50	chr13:90583688..90585209-chr6:29527999..29529519,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK6-28	chr13:90577907-90578113	NONHSAT034639
2	lnc-SLITRK6-28	chr13:90577868-90578113	NONHSAT034638
3	lnc-SLITRK6-28	chr13:90577876-90578113	l_900_chr13:90577875-90581583_kidney
4	lnc-SLITRK6-28	chr13:90581478-90581620	NONHSAT034639
5	lnc-SLITRK6-28	chr13:90581478-90581662	NONHSAT034638
6	lnc-SLITRK6-28	chr13:90581478-90581583	l_900_chr13:90577875-90581583_kidney
7	lnc-SLITRK6-28	chr13:90580934-90581047	NONHSAT034639
8	lnc-SLITRK6-28	chr13:90580934-90581047	l_900_chr13:90577875-90581583_kidney

No data

Variant related genes	Relation type
ENSG00000148308	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000225936	chromatin interactions
ENSG00000130304	chromatin interactions
ENSG00000222414	chromatin interactions
ENSG00000236905	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000110700	chromatin interactions
ENSG00000234227	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000067596	chromatin interactions
ENSG00000223247	chromatin interactions

Extended variants
information (count: 817 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:817 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557968573	chr13:90572929-90572930	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1341656	chr13:90572934-90572935	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544122469	chr13:90572993-90572994	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112849058	chr13:90573081-90573082	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs574276787	chr13:90573180-90573181	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541576496	chr13:90573225-90573226	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs17632974	chr13:90573272-90573273	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533649327	chr13:90573276-90573277	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149573027	chr13:90573300-90573301	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs80006091	chr13:90573319-90573320	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530843036	chr13:90573327-90573328	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541413873	chr13:90573368-90573369	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369753323	chr13:90573403-90573404	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567380311	chr13:90573409-90573410	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144231938	chr13:90573467-90573468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139169312	chr13:90573492-90573493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571365968	chr13:90573534-90573535	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538906367	chr13:90573545-90573546	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374497648	chr13:90573592-90573593	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75602423	chr13:90573604-90573605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs9588798	chr13:90573685-90573686	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs143094157	chr13:90573687-90573688	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs8002373	chr13:90573733-90573734	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs61960313	chr13:90573750-90573751	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572929392	chr13:90573775-90573776	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371000465	chr13:90573892-90573893	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs202175792	chr13:90573893-90573894	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs67888812	chr13:90573894-90573895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs61425756	chr13:90573895-90573896	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs143474652	chr13:90573928-90573929	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147514641	chr13:90574009-90574010	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577029667	chr13:90574012-90574013	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532970718	chr13:90574016-90574017	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553500725	chr13:90574024-90574025	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs578137262	chr13:90574086-90574087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs9522795	chr13:90574109-90574110	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563687107	chr13:90574163-90574164	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs187330384	chr13:90574167-90574168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs140054756	chr13:90574203-90574204	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560966033	chr13:90574220-90574221	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs142976909	chr13:90574221-90574222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs190152396	chr13:90574257-90574258	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs569819772	chr13:90574285-90574286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571397219	chr13:90574336-90574337	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs532252853	chr13:90574352-90574353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs372736830	chr13:90574377-90574378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181853331	chr13:90574435-90574436	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536553721	chr13:90574492-90574493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs9301634	chr13:90574498-90574499	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs186545205	chr13:90574586-90574587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Burkitt''s lymphoma	20823134	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90575200-90575800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr13:90575200-90575800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr13:90575200-90575800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr13:90575400-90575800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr13:90575400-90575800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:90575400-90575800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:90575400-90576600	Enhancers	HMEC	breast
8	chr13:90575600-90576600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:90575800-90581200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:90576000-90576400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:90576000-90576600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:90576000-90576600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr13:90576000-90576600	Enhancers	Hela-S3	cervix
14	chr13:90581000-90583800	Weak transcription	Right Atrium	heart
15	chr13:90582400-90583600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:90582600-90583600	Enhancers	HepG2	liver
17	chr13:90583000-90583400	Enhancers	Fetal Kidney	kidney
18	chr13:90583000-90583600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:90583000-90583600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr13:90583000-90583600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr13:90583200-90583400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:90583200-90583400	Enhancers	Pancreas	Pancrea
23	chr13:90583200-90583600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr13:90585000-90585400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr13:90585000-90585400	Active TSS	H9 Cell Line	embryonic stem cell
26	chr13:90585000-90585400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:90585000-90585400	Enhancers	Primary hematopoietic stem cells	blood
28	chr13:90585000-90585400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:90585000-90585400	Active TSS	HUVEC	blood vessel
30	chr13:90588000-90589600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr13:90588600-90589400	Enhancers	HMEC	breast
32	chr13:90591200-90591400	Enhancers	HMEC	breast
33	chr13:90592600-90598800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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