Variant report

Variant	esv1847638
Chromosome Location	chr2:98156826-98168165
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:98158810-98158993	GM12878	blood:	n/a	n/a
2	CTCF	chr2:98166292-98166313	GM20000	blood:	n/a	n/a
3	CTCF	chr2:98158929-98158970	GM13976	blood:	n/a	n/a
4	CTCF	chr2:98163240-98163390	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr2:98163264-98163379	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr2:98164271-98164310	GM20000	blood:	n/a	n/a
7	CTCF	chr2:98159687-98159697	LNCaP	prostate:	n/a	n/a
8	CTCF	chr2:98165300-98165450	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr2:98163380-98163530	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr2:98158391-98158472	GM13976	blood:	n/a	n/a
11	CTCF	chr2:98165380-98165530	AoAF	blood vessel:	n/a	n/a
12	CTCF	chr2:98165360-98165510	HMF	breast:	n/a	n/a
13	CTCF	chr2:98164743-98164849	GM13976	blood:	n/a	n/a
14	FOS	chr2:98166978-98167179	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr2:98165137-98165524	HUVEC	blood vessel:	n/a	chr2:98165220-98165231
16	FOS	chr2:98166898-98167205	HUVEC	blood vessel:	n/a	n/a
17	FOS	chr2:98166971-98167202	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr2:98163314-98163475	MCF10A-Er-Src	breast:	n/a	chr2:98163350-98163361
19	FOS	chr2:98163304-98163495	MCF10A-Er-Src	breast:	n/a	chr2:98163350-98163361
20	FOS	chr2:98166971-98167178	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr2:98163202-98163548	HUVEC	blood vessel:	n/a	chr2:98163350-98163361
22	FOS	chr2:98166971-98167201	MCF10A-Er-Src	breast:	n/a	n/a
23	FOXA1	chr2:98159585-98159881	HepG2	liver:	n/a	n/a
24	GATA2	chr2:98166927-98167530	HUVEC	blood vessel:	n/a	n/a
25	JUN	chr2:98166960-98167204	HUVEC	blood vessel:	n/a	n/a
26	JUN	chr2:98163213-98163523	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr2:98166974-98167199	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr2:98166857-98167567	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr2:98162801-98162877	ProgFib	skin:	n/a	n/a
30	POLR2A	chr2:98166951-98167300	HUVEC	blood vessel:	n/a	n/a
31	POU2F2	chr2:98167085-98167399	GM12878	blood:	n/a	n/a
32	SIN3AK20	chr2:98159677-98159780	HepG2	liver:	n/a	n/a
33	SPI1	chr2:98165217-98165522	K562	blood:	n/a	n/a
34	SPI1	chr2:98165269-98165459	GM12878	blood:	n/a	n/a
35	SPI1	chr2:98165188-98165526	GM12891	blood:	n/a	n/a
36	SPI1	chr2:98165217-98165487	K562	blood:	n/a	n/a
37	SPI1	chr2:98167096-98167528	GM12891	blood:	n/a	n/a
38	SPI1	chr2:98163482-98163669	GM12878	blood:	n/a	n/a
39	SPI1	chr2:98167105-98167520	GM12878	blood:	n/a	n/a
40	SPI1	chr2:98167165-98167492	GM12878	blood:	n/a	n/a
41	SPI1	chr2:98165185-98165623	GM12891	blood:	n/a	n/a
42	SPI1	chr2:98163501-98163640	K562	blood:	n/a	n/a
43	SPI1	chr2:98163498-98163651	K562	blood:	n/a	n/a
44	SPI1	chr2:98167097-98167422	K562	blood:	n/a	n/a
45	SPI1	chr2:98165187-98165526	GM12878	blood:	n/a	n/a
46	SPI1	chr2:98167113-98167348	K562	blood:	n/a	n/a
47	SPI1	chr2:98167042-98167578	GM12891	blood:	n/a	n/a
48	STAT3	chr2:98166975-98167175	MCF10A-Er-Src	breast:	n/a	n/a
49	ZBTB33	chr2:98165759-98165895	HepG2	liver:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR1B-5	chr2:98164470-98165954	NONHSAT072653
2	lnc-ACTR1B-5	chr2:98166049-98166705	NONHSAT072653

No data

Variant related genes	Relation type
ANKRD36B	TF binding region

Extended variants
information (count: 485 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567183267	chr2:98156828-98156829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2442236	chr2:98156946-98156947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2442237	chr2:98156954-98156955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536199012	chr2:98156959-98156960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552924312	chr2:98156970-98156971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572783728	chr2:98156993-98156994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538704286	chr2:98156995-98156996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558654954	chr2:98157020-98157021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575425195	chr2:98157101-98157102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544772601	chr2:98157106-98157107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555201950	chr2:98157141-98157142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575076438	chr2:98157174-98157175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540614244	chr2:98157191-98157192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2442238	chr2:98157200-98157201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2034402	chr2:98157205-98157206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2034401	chr2:98157272-98157273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560524214	chr2:98157442-98157443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532431024	chr2:98157469-98157470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545815403	chr2:98157493-98157494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562608867	chr2:98157533-98157534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113269483	chr2:98157539-98157540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368591915	chr2:98157542-98157543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185737316	chr2:98157614-98157615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113827257	chr2:98157925-98157926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113919661	chr2:98157937-98157938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529984567	chr2:98157946-98157947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73959745	chr2:98158012-98158013	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189659406	chr2:98158027-98158028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182367541	chr2:98158035-98158036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558593275	chr2:98158043-98158044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568923949	chr2:98158194-98158195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187745142	chr2:98158232-98158233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2922571	chr2:98158261-98158262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2442240	chr2:98158284-98158285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2442241	chr2:98158295-98158296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2442242	chr2:98158313-98158314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574969917	chr2:98158341-98158342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372395906	chr2:98158418-98158419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200052591	chr2:98158436-98158437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554144670	chr2:98158461-98158462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577482504	chr2:98158573-98158574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545751929	chr2:98158596-98158597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2463569	chr2:98158657-98158658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562548397	chr2:98158690-98158691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113064021	chr2:98158794-98158795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531690705	chr2:98159094-98159095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541953226	chr2:98159146-98159147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376668928	chr2:98159297-98159298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138087156	chr2:98159433-98159434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561115194	chr2:98159438-98159439	Weak transcription	n/a	n/a	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:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98140800-98187600	Weak transcription	Fetal Stomach	stomach
2	chr2:98141800-98161000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:98141800-98162800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:98142000-98168000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:98142800-98162200	Weak transcription	Primary B cells from cord blood	blood
6	chr2:98142800-98165000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:98142800-98171400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:98142800-98174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:98142800-98177800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:98143600-98167600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:98143600-98205600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:98144600-98165200	Weak transcription	Brain Germinal Matrix	brain
13	chr2:98147800-98168000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:98149600-98167600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:98151600-98162200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:98151600-98165000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:98151800-98165400	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:98152000-98162600	Weak transcription	Fetal Lung	lung
19	chr2:98152000-98163200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:98152400-98162600	Weak transcription	Adipose Nuclei	Adipose
21	chr2:98152400-98162600	Weak transcription	Fetal Thymus	thymus
22	chr2:98152600-98163600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr2:98152800-98158400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr2:98152800-98163800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:98153000-98166800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:98153200-98157000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:98153400-98189800	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:98153600-98178600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:98153800-98167200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr2:98154200-98162000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:98154200-98165400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:98154200-98168000	Weak transcription	Fetal Intestine Large	intestine
33	chr2:98154200-98185200	Weak transcription	Fetal Kidney	kidney
34	chr2:98154200-98187000	Weak transcription	Left Ventricle	heart
35	chr2:98154400-98166800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:98154600-98162600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:98154800-98162600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr2:98154800-98169600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:98154800-98174800	Weak transcription	Placenta	Placenta
40	chr2:98155200-98176600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:98155400-98162600	Weak transcription	Primary T cells from cord blood	blood
42	chr2:98155400-98165200	Weak transcription	Liver	Liver
43	chr2:98155800-98162600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:98156000-98157800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:98156200-98161600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:98156200-98161600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:98156200-98205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:98156400-98161400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:98156400-98162000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:98156400-98164200	Weak transcription	Fetal Brain Female	brain

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