Variant report

Variant	nsv10099
Chromosome Location	chr2:98121732-98148090
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:98139756-98139918	GM12878	blood:	n/a	n/a
2	BATF	chr2:98137602-98137837	GM12878	blood:	n/a	n/a
3	BHLHE40	chr2:98132740-98132967	HepG2	liver:	n/a	n/a
4	BHLHE40	chr2:98139694-98139945	HepG2	liver:	n/a	n/a
5	CTCF	chr2:98141357-98141383	GM13976	blood:	n/a	n/a
6	CTCF	chr2:98137517-98137596	Medullo	brain:	n/a	n/a
7	CTCF	chr2:98141357-98141373	LNCaP	prostate:	n/a	n/a
8	EP300	chr2:98128159-98128332	GM12878	blood:	n/a	n/a
9	EP300	chr2:98126267-98126522	GM12878	blood:	n/a	n/a
10	FOSL2	chr2:98139578-98140083	HepG2	liver:	n/a	n/a
11	FOSL2	chr2:98139360-98140032	HepG2	liver:	n/a	chr2:98139577-98139589
12	FOSL2	chr2:98122757-98123002	HepG2	liver:	n/a	n/a
13	FOSL2	chr2:98128062-98128322	HepG2	liver:	n/a	n/a
14	FOSL2	chr2:98122050-98122306	HepG2	liver:	n/a	n/a
15	FOSL2	chr2:98126557-98126864	HepG2	liver:	n/a	n/a
16	FOSL2	chr2:98132610-98132991	HepG2	liver:	n/a	n/a
17	FOXA1	chr2:98139412-98140203	HepG2	liver:	n/a	chr2:98139935-98139947 chr2:98139554-98139566
18	FOXA1	chr2:98142240-98142419	T-47D	breast:	n/a	n/a
19	FOXA2	chr2:98142097-98142627	A549	lung:	n/a	n/a
20	FOXA2	chr2:98142232-98142551	A549	lung:	n/a	n/a
21	GABPA	chr2:98139730-98139923	Hela-S3	cervix:	n/a	n/a
22	IRF4	chr2:98122736-98123137	GM12878	blood:	n/a	n/a
23	JUND	chr2:98139754-98139945	HepG2	liver:	n/a	n/a
24	JUND	chr2:98122747-98122955	HepG2	liver:	n/a	n/a
25	JUND	chr2:98139651-98140013	HepG2	liver:	n/a	n/a
26	JUND	chr2:98123556-98123799	HepG2	liver:	n/a	n/a
27	NR3C1	chr2:98139566-98140130	A549	lung:	n/a	n/a
28	NR3C1	chr2:98139663-98140069	A549	lung:	n/a	n/a
29	PAX5	chr2:98132676-98132866	GM12878	blood:	n/a	n/a
30	POLR2A	chr2:98135177-98135293	ProgFib	skin:	n/a	n/a
31	POLR2A	chr2:98128113-98128294	A549	lung:	n/a	n/a
32	POLR2A	chr2:98128257-98128276	Gliobla	brain:	n/a	n/a
33	POLR2A	chr2:98126005-98126178	Gliobla	brain:	n/a	n/a
34	POLR2A	chr2:98122095-98122266	A549	lung:	n/a	n/a
35	POU2F2	chr2:98132623-98132971	GM12878	blood:	n/a	n/a
36	POU2F2	chr2:98128046-98128488	GM12878	blood:	n/a	n/a
37	POU2F2	chr2:98126557-98126895	GM12878	blood:	n/a	n/a
38	POU2F2	chr2:98122553-98123081	GM12878	blood:	n/a	n/a
39	RXRA	chr2:98128101-98128344	HepG2	liver:	n/a	n/a
40	RXRA	chr2:98139680-98139952	HepG2	liver:	n/a	n/a
41	RXRA	chr2:98121913-98122289	HepG2	liver:	n/a	n/a
42	RXRA	chr2:98127875-98128241	HepG2	liver:	n/a	n/a
43	SIN3AK20	chr2:98122858-98122963	HepG2	liver:	n/a	n/a
44	SIN3AK20	chr2:98126706-98126819	HepG2	liver:	n/a	n/a
45	SIN3AK20	chr2:98136715-98136818	HepG2	liver:	n/a	n/a
46	SIN3AK20	chr2:98128782-98128969	HepG2	liver:	n/a	n/a
47	SIX5	chr2:98128148-98128371	K562	blood:	n/a	n/a
48	SIX5	chr2:98122827-98123036	K562	blood:	n/a	n/a
49	SIX5	chr2:98132693-98132928	K562	blood:	n/a	n/a
50	SP1	chr2:98134012-98134270	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR1B-8	chr2:98127601-98127712	NONHSAT072651
2	lnc-ACTR1B-8	chr2:98126044-98126196	NONHSAT072651
3	lnc-ACTR1B-6	chr2:98140412-98141439	NONHSAT072652
4	lnc-ACTR1B-8	chr2:98124458-98124528	NONHSAT072651
5	lnc-ACTR1B-8	chr2:98123499-98123528	NONHSAT072651
6	lnc-ACTR1B-8	chr2:98124027-98124120	NONHSAT072651

No data

Variant related genes	Relation type
ANKRD36B	TF binding region
ENSG00000235833	TF binding region

Extended variants
information (count: 297 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201369506	chr2:98123513-98123514	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs199683914	chr2:98123514-98123515	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs201806630	chr2:98124059-98124060	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs200176143	chr2:98124074-98124075	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs200790071	chr2:98124087-98124088	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs575612756	chr2:98127647-98127648	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs538343994	chr2:98127653-98127654	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs556831102	chr2:98127729-98127730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs573827172	chr2:98127756-98127757	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200556011	chr2:98127884-98127885	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201048873	chr2:98127911-98127912	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs199640705	chr2:98127921-98127922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs200574546	chr2:98127923-98127924	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs200662685	chr2:98127924-98127925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs201258098	chr2:98127993-98127994	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs199799974	chr2:98128014-98128015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs201536062	chr2:98128042-98128043	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs369836137	chr2:98128066-98128067	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs372869980	chr2:98128068-98128069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs376529881	chr2:98128070-98128071	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs369134454	chr2:98128071-98128072	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs373085949	chr2:98128073-98128074	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs200814958	chr2:98128135-98128136	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201832547	chr2:98128143-98128144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs199988876	chr2:98128150-98128151	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs199831829	chr2:98128172-98128173	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs201935800	chr2:98128183-98128184	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs150462050	chr2:98128194-98128195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs149359707	chr2:98128195-98128196	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs148539055	chr2:98128196-98128197	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs201190268	chr2:98128228-98128229	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs199956303	chr2:98128234-98128235	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs542502257	chr2:98128243-98128244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs140876104	chr2:98128256-98128257	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs148854709	chr2:98128258-98128259	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs200990159	chr2:98128300-98128301	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs559255447	chr2:98128304-98128305	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs572824296	chr2:98128306-98128307	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs544571697	chr2:98128308-98128309	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs202131502	chr2:98128313-98128314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs200630019	chr2:98128364-98128365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs370929832	chr2:98128387-98128388	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs200935570	chr2:98128402-98128403	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs200637231	chr2:98128421-98128422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs201852435	chr2:98128449-98128450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs200057888	chr2:98128472-98128473	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs368435981	chr2:98128805-98128806	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs377169002	chr2:98128817-98128818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs552218746	chr2:98128862-98128863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs199653460	chr2:98128888-98128889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98139000-98142000	Weak transcription	Fetal Brain Female	brain
2	chr2:98139600-98142400	Weak transcription	Primary B cells from cord blood	blood
3	chr2:98140400-98141800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:98140400-98142000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:98140400-98142200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:98140600-98143800	Weak transcription	Primary T cells from cord blood	blood
7	chr2:98140800-98142400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:98140800-98142400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:98140800-98152800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:98140800-98187600	Weak transcription	Fetal Stomach	stomach
11	chr2:98141200-98144800	Weak transcription	Thymus	Thymus
12	chr2:98141800-98144200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:98141800-98161000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:98141800-98162800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:98142000-98142800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:98142000-98142800	ZNF genes & repeats	Fetal Brain Female	brain
17	chr2:98142000-98142800	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr2:98142000-98168000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:98142200-98142400	Weak transcription	Brain Germinal Matrix	brain
20	chr2:98142200-98142800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:98142200-98142800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:98142200-98142800	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr2:98142200-98142800	ZNF genes & repeats	Lung	lung
24	chr2:98142400-98142800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:98142400-98142800	Strong transcription	Primary B cells from cord blood	blood
26	chr2:98142400-98142800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr2:98142400-98143600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:98142600-98143400	ZNF genes & repeats	Ovary	ovary
29	chr2:98142600-98144400	Weak transcription	Brain Germinal Matrix	brain
30	chr2:98142800-98153200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:98142800-98155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:98142800-98155800	Weak transcription	Fetal Brain Female	brain
33	chr2:98142800-98156000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:98142800-98162200	Weak transcription	Primary B cells from cord blood	blood
35	chr2:98142800-98165000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:98142800-98171400	Weak transcription	Fetal Intestine Small	intestine
37	chr2:98142800-98174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:98142800-98177800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:98143400-98154000	Weak transcription	Ovary	ovary
40	chr2:98143600-98167600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:98143600-98205600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:98143800-98144600	Strong transcription	Primary T cells from cord blood	blood
43	chr2:98144200-98156000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:98144400-98144600	ZNF genes & repeats	Brain Germinal Matrix	brain
45	chr2:98144600-98146600	Weak transcription	Primary T cells from cord blood	blood
46	chr2:98144600-98165200	Weak transcription	Brain Germinal Matrix	brain
47	chr2:98146600-98147000	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr2:98147000-98148000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:98147000-98155200	Weak transcription	Primary T cells from cord blood	blood
50	chr2:98147800-98168000	Weak transcription	Primary B cells from peripheral blood	blood

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