Variant report

Variant	nsv997973
Chromosome Location	chr2:97790267-97893135
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	chr2:97807805-97807929	K562	blood:	n/a	n/a
2	BACH1	chr2:97831358-97831389	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr2:97880580-97880763	GM12878	blood:	n/a	n/a
4	BATF	chr2:97873792-97873985	GM12878	blood:	n/a	n/a
5	BHLHE40	chr2:97873717-97873957	HepG2	liver:	n/a	n/a
6	BHLHE40	chr2:97869663-97870214	HepG2	liver:	n/a	n/a
7	BHLHE40	chr2:97858764-97859004	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:97877884-97877967	IMR90	lung:	n/a	n/a
9	CEBPB	chr2:97799578-97799766	HepG2	liver:	n/a	chr2:97799651-97799662
10	CEBPB	chr2:97858134-97858162	HepG2	liver:	n/a	n/a
11	CTCF	chr2:97823728-97823769	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr2:97819455-97819622	A549	lung:	n/a	chr2:97819553-97819571 chr2:97819556-97819569
13	CTCF	chr2:97819520-97819670	HPAF	blood vessel:	n/a	chr2:97819553-97819571 chr2:97819556-97819569
14	CTCF	chr2:97819433-97819651	Gliobla	brain:	n/a	chr2:97819553-97819571 chr2:97819556-97819569
15	CTCF	chr2:97868209-97868313	GM13976	blood:	n/a	n/a
16	CTCF	chr2:97820347-97820467	LNCaP	prostate:	n/a	n/a
17	CTCF	chr2:97868440-97868590	HL-60	blood:	n/a	n/a
18	CTCF	chr2:97819435-97819711	A549	lung:	n/a	chr2:97819553-97819571 chr2:97819556-97819569
19	CTCF	chr2:97819478-97819646	HUVEC	blood vessel:	n/a	chr2:97819553-97819571 chr2:97819556-97819569
20	CTCF	chr2:97862901-97862968	GM13976	blood:	n/a	n/a
21	CTCF	chr2:97876229-97876270	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr2:97819488-97819605	Medullo	brain:	n/a	chr2:97819553-97819571 chr2:97819556-97819569
23	CTCF	chr2:97819506-97819613	Fibrobl	skin:	n/a	chr2:97819553-97819571 chr2:97819556-97819569
24	CTCF	chr2:97876000-97876150	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr2:97807186-97807238	LNCaP	prostate:	n/a	n/a
26	CTCF	chr2:97819380-97819530	AG04450	lung:	n/a	n/a
27	CTCF	chr2:97819520-97819670	HCPEpiC	choroid plexus:	n/a	chr2:97819553-97819571 chr2:97819556-97819569
28	CTCF	chr2:97819504-97819583	LNCaP	prostate:	n/a	chr2:97819553-97819571 chr2:97819556-97819569
29	CTCF	chr2:97819440-97819590	HPF	lung:	n/a	chr2:97819553-97819571 chr2:97819556-97819569
30	CTCF	chr2:97819862-97819895	Lung_OC	lung:	n/a	n/a
31	CTCF	chr2:97807870-97807945	Gliobla	brain:	n/a	n/a
32	CTCF	chr2:97819464-97819640	Hela-S3	cervix:	n/a	chr2:97819553-97819571 chr2:97819556-97819569
33	CTCF	chr2:97819484-97819637	ProgFib	skin:	n/a	chr2:97819553-97819571 chr2:97819556-97819569
34	CTCF	chr2:97883253-97883274	GM10248	blood:	n/a	n/a
35	CTCF	chr2:97879460-97879548	GM13976	blood:	n/a	n/a
36	CTCF	chr2:97819420-97819570	HMEC	breast:	n/a	chr2:97819556-97819569
37	CTCF	chr2:97824027-97824074	Gliobla	brain:	n/a	n/a
38	CTCF	chr2:97819380-97819530	AG09319	gingival:	n/a	n/a
39	CTCF	chr2:97820387-97820453	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:97820374-97820475	Gliobla	brain:	n/a	n/a
41	CTCF	chr2:97807247-97807249	LNCaP	prostate:	n/a	n/a
42	CTCF	chr2:97819544-97819580	K562	blood:	n/a	chr2:97819553-97819571 chr2:97819556-97819569
43	CTCF	chr2:97805300-97805320	GM13976	blood:	n/a	n/a
44	CTCF	chr2:97807173-97807180	LNCaP	prostate:	n/a	n/a
45	CTCF	chr2:97819472-97819635	MCF-7	breast:	n/a	chr2:97819553-97819571 chr2:97819556-97819569
46	CTCF	chr2:97876040-97876190	MCF-7	breast:	n/a	n/a
47	CTCF	chr2:97876140-97876290	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr2:97876280-97876430	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr2:97819460-97819610	AG04450	lung:	n/a	chr2:97819553-97819571 chr2:97819556-97819569
50	CTCF	chr2:97819520-97819670	HMF	breast:	n/a	chr2:97819553-97819571 chr2:97819556-97819569

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97866538..97868238-chr3:73158384..73160590,2	MCF-7	breast:

Variant related genes	Relation type
ANKRD36	TF binding region
ENSG00000223247	chromatin interactions

Extended variants
information (count: 4990 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:4990 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550238209	chr2:97790273-97790274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200850634	chr2:97790279-97790280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199948939	chr2:97790286-97790287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141841093	chr2:97790287-97790288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4502463	chr2:97790326-97790327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548013553	chr2:97790328-97790329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113015045	chr2:97790398-97790399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567976661	chr2:97790422-97790423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4491760	chr2:97790430-97790431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534114407	chr2:97790479-97790480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148811523	chr2:97790495-97790496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576783151	chr2:97790505-97790506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539104412	chr2:97790532-97790533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181835869	chr2:97790604-97790605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376269311	chr2:97790616-97790617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2443927	chr2:97790623-97790624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576235465	chr2:97790643-97790644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542426197	chr2:97790684-97790685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562284086	chr2:97790715-97790716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572624493	chr2:97790716-97790717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2443926	chr2:97790724-97790725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112773590	chr2:97790806-97790807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564665829	chr2:97790877-97790878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550953094	chr2:97790958-97790959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372209674	chr2:97790962-97790963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549790577	chr2:97790969-97790970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571322204	chr2:97791009-97791010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534016131	chr2:97791026-97791027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563426010	chr2:97791033-97791034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529359660	chr2:97791065-97791066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547950916	chr2:97791101-97791102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2442285	chr2:97791151-97791152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568246460	chr2:97791296-97791297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527550231	chr2:97791325-97791326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536814478	chr2:97791364-97791365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112637806	chr2:97791367-97791368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547662294	chr2:97791377-97791378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570706515	chr2:97791386-97791387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2443925	chr2:97791413-97791414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142630510	chr2:97791448-97791449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533849942	chr2:97791454-97791455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556229163	chr2:97791494-97791495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569733448	chr2:97791520-97791521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535566483	chr2:97791597-97791598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113850184	chr2:97791710-97791711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555951184	chr2:97791886-97791887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572589624	chr2:97792014-97792015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397843413	chr2:97792065-97792066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373468601	chr2:97792145-97792146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541309305	chr2:97792146-97792147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-small cell lung cancer	16651412	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1215 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97779800-97792000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:97779800-97793200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:97779800-97802800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:97779800-97807600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:97779800-97807800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:97779800-97808600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:97779800-97809400	Weak transcription	Fetal Thymus	thymus
8	chr2:97779800-97809800	Weak transcription	Fetal Intestine Large	intestine
9	chr2:97779800-97810200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:97779800-97810400	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:97779800-97810600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:97779800-97813000	Weak transcription	NHEK	skin
13	chr2:97779800-97813600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:97779800-97814400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:97779800-97815800	Weak transcription	NHDF-Ad	bronchial
16	chr2:97779800-97819200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:97779800-97821000	Weak transcription	Primary B cells from cord blood	blood
18	chr2:97779800-97825400	Weak transcription	Hela-S3	cervix
19	chr2:97779800-97835200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:97779800-97835600	Weak transcription	Fetal Lung	lung
21	chr2:97779800-97845800	Weak transcription	Primary T cells from cord blood	blood
22	chr2:97779800-97845800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:97779800-97845800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:97779800-97856800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:97779800-97857000	Weak transcription	HSMM	muscle
26	chr2:97779800-97860400	Weak transcription	HMEC	breast
27	chr2:97779800-97877200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:97780000-97793200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:97780000-97793400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:97780000-97793800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:97780000-97795000	Weak transcription	Osteobl	bone
32	chr2:97780000-97795600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:97780000-97796800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:97780000-97808600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:97780000-97810400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:97780000-97810400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:97780000-97810800	Weak transcription	A549	lung
38	chr2:97780000-97817600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:97780000-97825800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:97780000-97884600	Weak transcription	Fetal Stomach	stomach
41	chr2:97780200-97799600	Weak transcription	Thymus	Thymus
42	chr2:97780200-97804200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:97780200-97807600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:97780200-97811200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:97780800-97793200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:97780800-97793400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:97780800-97808000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:97781000-97808600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:97781000-97861800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:97782200-97835400	Weak transcription	Fetal Brain Female	brain

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