Variant report

Variant	nsv963667
Chromosome Location	chr2:97737374-97748475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:117)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:117 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:97748081-97748424	K562	blood:	n/a	n/a
2	CTCF	chr2:97748240-97748390	HEEpiC	esophagus:	n/a	n/a
3	CTCF	chr2:97748129-97748312	A549	lung:	n/a	n/a
4	CTCF	chr2:97748180-97748330	NHEK	skin:	n/a	n/a
5	CTCF	chr2:97748240-97748390	GM12864	blood:	n/a	n/a
6	CTCF	chr2:97748210-97748344	LNCaP	prostate:	n/a	n/a
7	CTCF	chr2:97741822-97741904	GM13976	blood:	n/a	n/a
8	CTCF	chr2:97748234-97748301	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr2:97748223-97748329	GM12878	blood:	n/a	n/a
10	CTCF	chr2:97738439-97738485	GM13976	blood:	n/a	n/a
11	CTCF	chr2:97748180-97748330	MCF-7	breast:	n/a	n/a
12	CTCF	chr2:97742887-97742927	GM10248	blood:	n/a	n/a
13	CTCF	chr2:97748227-97748249	GM10266	blood:	n/a	n/a
14	CTCF	chr2:97738323-97738535	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr2:97748206-97748323	GM19238	blood:	n/a	n/a
16	CTCF	chr2:97748159-97748365	MCF-7	breast:	n/a	n/a
17	CTCF	chr2:97738387-97738511	LNCaP	prostate:	n/a	n/a
18	CTCF	chr2:97748158-97748355	MCF-7	breast:	n/a	n/a
19	CTCF	chr2:97748184-97748336	GM12892	blood:	n/a	n/a
20	CTCF	chr2:97748160-97748310	GM12875	blood:	n/a	n/a
21	CTCF	chr2:97748096-97748328	K562	blood:	n/a	n/a
22	CTCF	chr2:97748109-97748332	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr2:97748200-97748350	GM12871	blood:	n/a	n/a
24	CTCF	chr2:97746224-97746290	GM13976	blood:	n/a	n/a
25	CTCF	chr2:97748232-97748326	Pancreas_OC	pancreas:	n/a	n/a
26	CTCF	chr2:97748182-97748350	MCF-7	breast:	n/a	n/a
27	CTCF	chr2:97748140-97748290	GM12873	blood:	n/a	n/a
28	CTCF	chr2:97748260-97748410	GM12873	blood:	n/a	n/a
29	CTCF	chr2:97748160-97748310	BE2_C	brain:	n/a	n/a
30	CTCF	chr2:97747994-97748464	A549	lung:	n/a	n/a
31	CTCF	chr2:97748268-97748335	Lung_OC	lung:	n/a	n/a
32	CTCF	chr2:97748161-97748341	MCF-7	breast:	n/a	n/a
33	CTCF	chr2:97738377-97738450	GM13977	blood:	n/a	n/a
34	CTCF	chr2:97748174-97748336	MCF-7	breast:	n/a	n/a
35	CTCF	chr2:97738360-97738421	Medullo	brain:	n/a	n/a
36	CTCF	chr2:97738390-97738506	GM10248	blood:	n/a	n/a
37	CTCF	chr2:97748095-97748393	K562	blood:	n/a	n/a
38	CTCF	chr2:97748240-97748390	MCF-7	breast:	n/a	n/a
39	CTCF	chr2:97744083-97744137	LNCaP	prostate:	n/a	n/a
40	CTCF	chr2:97748030-97748407	A549	lung:	n/a	n/a
41	CTCF	chr2:97748249-97748313	K562	blood:	n/a	n/a
42	CTCF	chr2:97748220-97748370	GM12873	blood:	n/a	n/a
43	CTCF	chr2:97748151-97748318	K562	blood:	n/a	n/a
44	CTCF	chr2:97748190-97748334	GM12891	blood:	n/a	n/a
45	CTCF	chr2:97746213-97746215	GM13976	blood:	n/a	n/a
46	CTCF	chr2:97745642-97745693	GM10248	blood:	n/a	n/a
47	CTCF	chr2:97748188-97748339	LNCaP	prostate:	n/a	n/a
48	CTCF	chr2:97748139-97748410	A549	lung:	n/a	n/a
49	CTCF	chr2:97748240-97748390	NHEK	skin:	n/a	n/a
50	CTCF	chr2:97748240-97748390	Caco-2	colon:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:97746622-97746672	HRE	kidney:	n/a
2	chr2:97746622-97746672	Hela-S3	cervix:	n/a
3	chr2:97746622-97746672	BE2_C	brain:	n/a
4	chr2:97746622-97746672	H1-hESC	embryonic stem cell:	embryo
5	chr2:97746622-97746672	HepG2	liver:	n/a
6	chr2:97746622-97746672	SK-N-SH	brain:	n/a
7	chr2:97746622-97746672	AG10803	skin:	n/a
8	chr2:97746622-97746672	U87	brain:	n/a
9	chr2:97746622-97746672	GM12878	blood:	n/a
10	chr2:97746622-97746672	T-47D	breast:	n/a
11	chr2:97746622-97746672	HMEC	breast:	n/a
12	chr2:97746622-97746672	SK-N-MC	brain:	n/a
13	chr2:97746622-97746672	HUVEC	blood vessel:	n/a
14	chr2:97746622-97746672	AoSMC	blood vessel:	n/a
15	chr2:97746622-97746672	CMK	blood:	n/a
16	chr2:97746622-97746672	ECC-1	luminal epithelium:	n/a
17	chr2:97746622-97746672	IMR90	lung:	fetal
18	chr2:97746622-97746672	AG09319	gingival:	n/a
19	chr2:97746622-97746672	HL-60	blood:	n/a
20	chr2:97746622-97746672	HCPEpiC	choroid plexus:	n/a
21	chr2:97746622-97746672	HEK293	kidney:	embryo
22	chr2:97746622-97746672	BJ	skin:	n/a
23	chr2:97746622-97746672	AG09309	skin:	n/a
24	chr2:97746622-97746672	GM19239	blood:	n/a
25	chr2:97746622-97746672	NHBE	bronchial:	n/a
26	chr2:97746622-97746672	PFSK-1	brain:	n/a
27	chr2:97746622-97746672	PANC-1	pancreas:	n/a
28	chr2:97746622-97746672	HPAEpiC	pulmonary alveolar:	n/a
29	chr2:97746622-97746672	K562	blood:	n/a
30	chr2:97746622-97746672	MCF-7	breast:	n/a
31	chr2:97746622-97746672	HCF	heart:	n/a
32	chr2:97746622-97746672	NB4	blood:	n/a
33	chr2:97746622-97746672	NT2-D1	testis:	n/a
34	chr2:97746622-97746672	Hepatocyte	liver:	n/a
35	chr2:97746622-97746672	SKMC	muscle:	n/a
36	chr2:97746622-97746672	AG04450	lung:	fetal
37	chr2:97746622-97746672	HRPEpiC	eye:	n/a
38	chr2:97746622-97746672	HCT-116	colon:	n/a
39	chr2:97746622-97746672	HEEpiC	esophagus:	n/a
40	chr2:97746622-97746672	Jurkat	blood:	n/a
41	chr2:97746622-97746672	PrEC	prostate:	n/a
42	chr2:97746622-97746672	HAEpiC	amniotic membrane:	n/a
43	chr2:97746622-97746672	GM12891	blood:	n/a
44	chr2:97746622-97746672	Caco-2	colon:	n/a
45	chr2:97746622-97746672	GM06990	blood:	n/a
46	chr2:97746622-97746672	SK-N-SH_RA	brain:	n/a
47	chr2:97746622-97746672	SAEC	small airway:	n/a
48	chr2:97746622-97746672	LNCaP	prostate:	n/a
49	chr2:97746622-97746672	ovcar-3	ovarian:	n/a
50	chr2:97746622-97746672	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97522364..97524649-chr2:97747761..97749583,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD36-5	chr2:97747330-97748385	NONHSAT072606

No data

Variant related genes	Relation type
ENSG00000188383	TF binding region
ENSG00000188383	CpG island
ENSG00000163126	chromatin interactions
ENSG00000213337	chromatin interactions

Extended variants
information (count: 191 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112030997	chr2:97737613-97737614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1148576	chr2:97737934-97737935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111817494	chr2:97738018-97738019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558525458	chr2:97738564-97738565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2314842	chr2:97738644-97738645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534905720	chr2:97738743-97738744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2314841	chr2:97738784-97738785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570011893	chr2:97742912-97742913	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs140128897	chr2:97742919-97742920	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs373257817	chr2:97742932-97742933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs537543531	chr2:97742936-97742937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs73961151	chr2:97742949-97742950	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191492434	chr2:97742955-97742956	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs1257050	chr2:97742963-97742964	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs113182797	chr2:97742964-97742965	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs535582305	chr2:97742966-97742967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs555672490	chr2:97742970-97742971	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs535315202	chr2:97743090-97743091	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs182465852	chr2:97743102-97743103	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs139741888	chr2:97743103-97743104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs543849037	chr2:97743147-97743148	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs112140592	chr2:97743153-97743154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs541397073	chr2:97743154-97743155	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs574049685	chr2:97743189-97743190	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs553219214	chr2:97743191-97743192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs142074411	chr2:97743201-97743202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs561707163	chr2:97743217-97743218	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs148325721	chr2:97743266-97743267	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs151138013	chr2:97743267-97743268	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs114710554	chr2:97743299-97743300	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs200039259	chr2:97743306-97743307	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs376219241	chr2:97743308-97743309	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs577840157	chr2:97743326-97743327	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs185097996	chr2:97743334-97743335	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs574015646	chr2:97744122-97744123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs546937833	chr2:97744811-97744812	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs77304026	chr2:97744814-97744815	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs187868203	chr2:97744815-97744816	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs76396508	chr2:97744817-97744818	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs536657068	chr2:97744829-97744830	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs199572238	chr2:97744860-97744861	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs78380609	chr2:97744871-97744872	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs571518730	chr2:97744886-97744887	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs59727323	chr2:97744900-97744901	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147856003	chr2:97744909-97744910	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs545146340	chr2:97744932-97744933	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs370081295	chr2:97744967-97744968	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs192916956	chr2:97744969-97744970	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs532356948	chr2:97744978-97744979	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs577449552	chr2:97744981-97744982	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97734200-97738600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:97738600-97738800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:97744800-97745000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:97745000-97760600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:97746600-97759800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:97747000-97760600	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:97747200-97760800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:97747400-97749200	Weak transcription	Fetal Stomach	stomach
9	chr2:97747600-97748600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:97747600-97749600	Enhancers	Esophagus	oesophagus
11	chr2:97747600-97759800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:97747800-97748000	Enhancers	Brain Hippocampus Middle	brain
13	chr2:97748000-97749400	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:97748000-97759800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:97748000-97760400	Weak transcription	Ovary	ovary
16	chr2:97748000-97760400	Weak transcription	Right Ventricle	heart
17	chr2:97748000-97760600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:97748000-97760800	Weak transcription	Brain Substantia Nigra	brain

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