Variant report

Variant	esv1572844
Chromosome Location	chr2:97202459-97202460
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	chr2:97202107-97202545	K562	blood:	n/a	n/a
2	BACH1	chr2:97202287-97203063	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr2:97202255-97203209	GM12878	blood:	n/a	chr2:97202735-97202748 chr2:97202916-97202925 chr2:97202986-97202995 chr2:97202754-97202767 chr2:97202575-97202588 chr2:97202256-97202265 chr2:97203022-97203035 chr2:97202363-97202376 chr2:97203021-97203034
4	BCLAF1	chr2:97202167-97203312	GM12878	blood:	n/a	chr2:97202735-97202748 chr2:97202916-97202925 chr2:97202986-97202995 chr2:97202754-97202767 chr2:97202575-97202588 chr2:97202256-97202265 chr2:97203022-97203035 chr2:97202363-97202376 chr2:97203021-97203034
5	BHLHE40	chr2:97202313-97203238	GM12878	blood:	n/a	chr2:97202975-97202991 chr2:97203154-97203170 chr2:97202751-97202767
6	CCNT2	chr2:97202242-97203234	K562	blood:	n/a	chr2:97202363-97202372
7	CEBPD	chr2:97202172-97202763	HepG2	liver:	n/a	n/a
8	CHD1	chr2:97202388-97205218	GM12878	blood:	n/a	chr2:97204608-97204618 chr2:97204475-97204485
9	CHD2	chr2:97202195-97202481	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr2:97202159-97202641	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr2:97202190-97202531	K562	blood:	n/a	n/a
12	CHD2	chr2:97202264-97202547	HepG2	liver:	n/a	n/a
13	CHD2	chr2:97202172-97205104	GM12878	blood:	n/a	chr2:97204608-97204618 chr2:97204475-97204485
14	CREB1	chr2:97202171-97202508	ECC-1	luminal epithelium:	n/a	n/a
15	CREB1	chr2:97202147-97202546	ECC-1	luminal epithelium:	n/a	n/a
16	CREB1	chr2:97201949-97203502	HepG2	liver:	n/a	n/a
17	CREB1	chr2:97202146-97202657	H1-hESC	embryonic stem cell:	n/a	n/a
18	CREB1	chr2:97202120-97203949	GM12878	blood:	n/a	chr2:97203711-97203724
19	CREB1	chr2:97202085-97202640	HepG2	liver:	n/a	n/a
20	CREB1	chr2:97202192-97202492	A549	lung:	n/a	n/a
21	CREB1	chr2:97202114-97202652	A549	lung:	n/a	n/a
22	CREB1	chr2:97202114-97202646	K562	blood:	n/a	n/a
23	CTCF	chr2:97202360-97202510	MCF-7	breast:	n/a	n/a
24	CTCF	chr2:97202320-97202470	GM12866	blood:	n/a	n/a
25	E2F4	chr2:97202288-97203172	K562	blood:	n/a	chr2:97202822-97202833 chr2:97202758-97202767 chr2:97202822-97202829 chr2:97202363-97202372 chr2:97202631-97202641 chr2:97202630-97202640 chr2:97202977-97202987
26	E2F4	chr2:97202205-97202569	MCF10A-Er-Src	breast:	n/a	chr2:97202363-97202372
27	E2F6	chr2:97202285-97203186	K562	blood:	n/a	chr2:97202822-97202833 chr2:97202758-97202767 chr2:97202822-97202829 chr2:97202363-97202372 chr2:97202631-97202641 chr2:97202630-97202640 chr2:97202977-97202987
28	E2F6	chr2:97202374-97203227	K562	blood:	n/a	chr2:97202822-97202833 chr2:97202758-97202767 chr2:97202822-97202829 chr2:97202631-97202641 chr2:97202630-97202640 chr2:97202977-97202987
29	EBF1	chr2:97202154-97202504	GM12878	blood:	n/a	chr2:97202207-97202216
30	EGR1	chr2:97202178-97202564	K562	blood:	n/a	chr2:97202426-97202440 chr2:97202363-97202373 chr2:97202325-97202349
31	EGR1	chr2:97202209-97202596	K562	blood:	n/a	chr2:97202426-97202440 chr2:97202363-97202373 chr2:97202325-97202349
32	EGR1	chr2:97202256-97202613	GM12878	blood:	n/a	chr2:97202426-97202440 chr2:97202363-97202373 chr2:97202325-97202349
33	ELF1	chr2:97202164-97202540	HepG2	liver:	n/a	chr2:97202363-97202375
34	ELF1	chr2:97202159-97203354	GM12878	blood:	n/a	chr2:97203252-97203264 chr2:97203025-97203034 chr2:97202915-97202928 chr2:97202363-97202375
35	ELF1	chr2:97202170-97204397	GM12878	blood:	n/a	chr2:97203252-97203264 chr2:97203025-97203034 chr2:97202915-97202928 chr2:97202363-97202375
36	ELF1	chr2:97202151-97202499	K562	blood:	n/a	chr2:97202363-97202375
37	ELF1	chr2:97202208-97202512	HepG2	liver:	n/a	chr2:97202363-97202375
38	ELF1	chr2:97202131-97203207	K562	blood:	n/a	chr2:97203025-97203034 chr2:97202915-97202928 chr2:97202363-97202375
39	ELK1	chr2:97202214-97202470	GM12878	blood:	n/a	n/a
40	ETS1	chr2:97202072-97202576	A549	lung:	n/a	chr2:97202364-97202375 chr2:97202325-97202338 chr2:97202324-97202337 chr2:97202363-97202374
41	ETS1	chr2:97202217-97203182	GM12878	blood:	n/a	chr2:97202914-97202925 chr2:97202364-97202375 chr2:97202325-97202338 chr2:97202911-97202925 chr2:97202913-97202926 chr2:97202324-97202337 chr2:97202363-97202374 chr2:97202913-97202924
42	ETS1	chr2:97202151-97202490	A549	lung:	n/a	chr2:97202364-97202375 chr2:97202325-97202338 chr2:97202324-97202337 chr2:97202363-97202374
43	ETS1	chr2:97202201-97202656	K562	blood:	n/a	chr2:97202364-97202375 chr2:97202325-97202338 chr2:97202324-97202337 chr2:97202363-97202374
44	ETS1	chr2:97202162-97202555	GM12878	blood:	n/a	chr2:97202364-97202375 chr2:97202325-97202338 chr2:97202324-97202337 chr2:97202363-97202374
45	ETS1	chr2:97202143-97202803	K562	blood:	n/a	chr2:97202364-97202375 chr2:97202325-97202338 chr2:97202324-97202337 chr2:97202363-97202374
46	FOSL2	chr2:97202129-97202561	HepG2	liver:	n/a	chr2:97202364-97202373 chr2:97202402-97202411
47	FOXM1	chr2:97202452-97203311	GM12878	blood:	n/a	n/a
48	FOXP2	chr2:97202240-97202711	PFSK-1	brain:	n/a	n/a
49	FOXP2	chr2:97202154-97202515	SK-N-MC	brain:	n/a	n/a
50	GABPA	chr2:97202104-97203193	K562	blood:	n/a	chr2:97202363-97202372 chr2:97202731-97202740

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:97202435-97202485	ovcar-3	ovarian:	n/a
2	chr2:97202435-97202485	ovcar-3	ovarian:	n/a
3	chr2:97202435-97202485	BJ	skin:	n/a
4	chr2:97202435-97202485	GM06990	blood:	n/a
5	chr2:97202435-97202485	SK-N-MC	brain:	n/a
6	chr2:97202435-97202485	HAEpiC	amniotic membrane:	n/a
7	chr2:97202435-97202485	HRCEpiC	kidney:	n/a
8	chr2:97202435-97202485	U87	brain:	n/a
9	chr2:97202435-97202485	HNPCEpiC	eye:	n/a
10	chr2:97202435-97202485	HUVEC	blood vessel:	n/a
11	chr2:97202435-97202485	PrEC	prostate:	n/a
12	chr2:97202435-97202485	H1-hESC	embryonic stem cell:	embryo
13	chr2:97202435-97202485	RPTEC	kidney:	n/a
14	chr2:97202435-97202485	HPAEpiC	pulmonary alveolar:	n/a
15	chr2:97202435-97202485	Hepatocyte	liver:	n/a
16	chr2:97202435-97202485	Jurkat	blood:	n/a
17	chr2:97202435-97202485	HEK293	kidney:	embryo
18	chr2:97202435-97202485	SK-N-SH_RA	brain:	n/a
19	chr2:97202435-97202485	HCPEpiC	choroid plexus:	n/a
20	chr2:97202435-97202485	PFSK-1	brain:	n/a
21	chr2:97202435-97202485	HepG2	liver:	n/a
22	chr2:97202435-97202485	AG04450	lung:	fetal
23	chr2:97202435-97202485	MCF-7	breast:	n/a
24	chr2:97202435-97202485	PANC-1	pancreas:	n/a
25	chr2:97202435-97202485	GM12891	blood:	n/a
26	chr2:97202435-97202485	A549	lung:	n/a
27	chr2:97202435-97202485	T-47D	breast:	n/a
28	chr2:97202435-97202485	HCF	heart:	n/a
29	chr2:97202435-97202485	K562	blood:	n/a
30	chr2:97202435-97202485	NB4	blood:	n/a
31	chr2:97202435-97202485	NHDF-neo	bronchial:	n/a
32	chr2:97202435-97202485	HMEC	breast:	n/a
33	chr2:97202435-97202485	HRE	kidney:	n/a
34	chr2:97202435-97202485	Caco-2	colon:	n/a
35	chr2:97202435-97202485	GM12892	blood:	n/a
36	chr2:97202435-97202485	ECC-1	luminal epithelium:	n/a
37	chr2:97202435-97202485	AG10803	skin:	n/a
38	chr2:97202435-97202485	AG09319	gingival:	n/a
39	chr2:97202435-97202485	ProgFib	skin:	n/a
40	chr2:97202435-97202485	BE2_C	brain:	n/a
41	chr2:97202435-97202485	GM12878	blood:	n/a
42	chr2:97202435-97202485	HEEpiC	esophagus:	n/a
43	chr2:97202435-97202485	HL-60	blood:	n/a
44	chr2:97202435-97202485	HCM	heart:	n/a
45	chr2:97202435-97202485	AoSMC	blood vessel:	n/a
46	chr2:97202435-97202485	GM19239	blood:	n/a
47	chr2:97202435-97202485	LNCaP	prostate:	n/a
48	chr2:97202435-97202485	NHBE	bronchial:	n/a
49	chr2:97202435-97202485	HRPEpiC	eye:	n/a
50	chr2:97202435-97202485	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:97202384..97205156-chr2:97301374..97305632,4	K562	blood:
2	chr12:48222905..48223893-chr2:97202019..97202875,2	Hela-S3	cervix:
3	chr2:97202384..97205156-chr2:97302029..97304901,3	K562	blood:
4	chr2:97170365..97172764-chr2:97201540..97203996,4	MCF-7	breast:
5	chr2:96873119..96874915-chr2:97202040..97204570,2	K562	blood:
6	chr2:97200182..97202893-chr2:97212843..97214474,2	MCF-7	breast:
7	chr16:2652795..2653544-chr2:97202310..97202810,2	Hela-S3	cervix:
8	chr2:96872802..96875592-chr2:97201053..97203640,2	K562	blood:

Variant related genes	Relation type
ARID5A	TF binding region
ENSG00000235480	TF binding region
ARID5A	CpG island
ENSG00000235480	CpG island
ENSG00000257488	chromatin interactions
ENSG00000163121	chromatin interactions
ENSG00000084090	chromatin interactions
ENSG00000215154	chromatin interactions
ENSG00000196843	chromatin interactions
ENSG00000204685	chromatin interactions
ENSG00000114982	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71386015	chr2:97202460-97202461	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97194000-97202600	Enhancers	Placenta	Placenta
2	chr2:97198200-97202600	Weak transcription	Fetal Kidney	kidney
3	chr2:97198400-97203200	Weak transcription	Fetal Brain Male	brain
4	chr2:97200600-97202600	Weak transcription	Fetal Lung	lung
5	chr2:97201000-97202600	Weak transcription	NHDF-Ad	bronchial
6	chr2:97202000-97202600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:97202000-97202600	Enhancers	Fetal Intestine Small	intestine
8	chr2:97202000-97202600	Enhancers	Stomach Mucosa	stomach
9	chr2:97202000-97204600	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr2:97202000-97205200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr2:97202200-97202600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr2:97202200-97202600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr2:97202200-97202600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:97202200-97202600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:97202200-97202800	Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr2:97202200-97202800	Active TSS	Fetal Brain Female	brain
17	chr2:97202200-97203000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:97202200-97203000	Active TSS	Colonic Mucosa	Colon
19	chr2:97202200-97203200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr2:97202200-97203200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:97202200-97203200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:97202200-97203200	Active TSS	Muscle Satellite Cultured Cells	--
23	chr2:97202200-97203200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:97202200-97203200	Active TSS	Esophagus	oesophagus
25	chr2:97202200-97203200	Bivalent/Poised TSS	HepG2	liver
26	chr2:97202200-97203600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr2:97202200-97203600	Active TSS	Brain Substantia Nigra	brain
28	chr2:97202200-97203600	Active TSS	NHLF	lung
29	chr2:97202200-97203800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:97202200-97203800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:97202200-97204000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:97202200-97204000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:97202200-97204000	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr2:97202200-97204200	Active TSS	Brain Anterior Caudate	brain
35	chr2:97202200-97204400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr2:97202200-97204600	Active TSS	Primary T cells from cord blood	blood
37	chr2:97202400-97202600	Active TSS	H1 Cell Line	embryonic stem cell
38	chr2:97202400-97202600	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr2:97202400-97202600	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr2:97202400-97202600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr2:97202400-97202600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:97202400-97202600	Weak transcription	Brain Angular Gyrus	brain
43	chr2:97202400-97202800	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr2:97202400-97202800	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr2:97202400-97202800	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr2:97202400-97202800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:97202400-97202800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr2:97202400-97202800	Active TSS	Fetal Intestine Large	intestine
49	chr2:97202400-97202800	Active TSS	Fetal Stomach	stomach
50	chr2:97202400-97203000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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