Variant report

Variant	esv2254279
Chromosome Location	chr2:191399083-191399084
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	ARID3A	chr2:191398672-191399915	HepG2	liver:	n/a	n/a
2	ATF2	chr2:191398544-191399158	GM12878	blood:	n/a	n/a
3	ATF2	chr2:191398446-191399955	GM12878	blood:	n/a	n/a
4	BCL3	chr2:191398793-191399747	GM12878	blood:	n/a	chr2:191399522-191399531 chr2:191399556-191399569 chr2:191399440-191399449 chr2:191399560-191399573
5	BCL3	chr2:191398828-191399534	A549	lung:	n/a	chr2:191399522-191399531 chr2:191399440-191399449
6	BCLAF1	chr2:191398466-191399939	GM12878	blood:	n/a	chr2:191399522-191399531 chr2:191399556-191399569 chr2:191399440-191399449 chr2:191399560-191399573
7	BCLAF1	chr2:191398393-191399974	GM12878	blood:	n/a	chr2:191399522-191399531 chr2:191399556-191399569 chr2:191399440-191399449 chr2:191399560-191399573
8	BHLHE40	chr2:191398633-191399886	K562	blood:	n/a	n/a
9	BHLHE40	chr2:191398555-191399977	GM12878	blood:	n/a	n/a
10	BHLHE40	chr2:191398541-191399794	HepG2	liver:	n/a	n/a
11	BRCA1	chr2:191399063-191399774	HepG2	liver:	n/a	n/a
12	BRCA1	chr2:191398945-191399765	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr2:191398929-191399100	H1-hESC	embryonic stem cell:	n/a	n/a
14	CBX3	chr2:191398727-191399994	K562	blood:	n/a	n/a
15	CCNT2	chr2:191399067-191399952	K562	blood:	n/a	n/a
16	CEBPB	chr2:191398721-191399094	HepG2	liver:	n/a	n/a
17	CEBPB	chr2:191398646-191399766	HepG2	liver:	n/a	n/a
18	CEBPB	chr2:191398327-191399334	GM12878	blood:	n/a	n/a
19	CEBPB	chr2:191398734-191400034	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr2:191399021-191399189	HepG2	liver:	n/a	n/a
21	CEBPB	chr2:191398977-191399092	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPD	chr2:191398573-191399898	HepG2	liver:	n/a	n/a
23	CEBPD	chr2:191399008-191399764	HepG2	liver:	n/a	n/a
24	CHD1	chr2:191397854-191400364	GM12878	blood:	n/a	n/a
25	CHD2	chr2:191398899-191399855	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr2:191398583-191399700	GM12878	blood:	n/a	n/a
27	CHD2	chr2:191399080-191399810	K562	blood:	n/a	n/a
28	CHD2	chr2:191398528-191399704	HepG2	liver:	n/a	n/a
29	CREB1	chr2:191398487-191400032	HepG2	liver:	n/a	n/a
30	CREB1	chr2:191399018-191399799	A549	lung:	n/a	n/a
31	CTBP2	chr2:191398908-191399893	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr2:191398998-191399482	GM12878	blood:	n/a	n/a
33	E2F1	chr2:191398957-191399713	Hela-S3	cervix:	n/a	chr2:191399494-191399501 chr2:191399204-191399218 chr2:191399207-191399221 chr2:191399494-191399501 chr2:191399124-191399133 chr2:191399128-191399138 chr2:191399490-191399502 chr2:191399494-191399501 chr2:191399510-191399519
34	E2F4	chr2:191398732-191399595	GM12878	blood:	n/a	chr2:191399494-191399501 chr2:191399204-191399218 chr2:191399207-191399221 chr2:191399494-191399501 chr2:191399124-191399133 chr2:191399128-191399138 chr2:191399490-191399502 chr2:191399494-191399501 chr2:191399491-191399502 chr2:191399510-191399519
35	E2F4	chr2:191398619-191399885	K562	blood:	n/a	chr2:191399494-191399501 chr2:191399204-191399218 chr2:191399207-191399221 chr2:191399494-191399501 chr2:191399124-191399133 chr2:191399128-191399138 chr2:191399490-191399502 chr2:191399494-191399501 chr2:191399491-191399502 chr2:191399510-191399519
36	E2F4	chr2:191398869-191399898	MCF10A-Er-Src	breast:	n/a	chr2:191399494-191399501 chr2:191399204-191399218 chr2:191399207-191399221 chr2:191399494-191399501 chr2:191399124-191399133 chr2:191399128-191399138 chr2:191399490-191399502 chr2:191399494-191399501 chr2:191399491-191399502 chr2:191399510-191399519
37	E2F6	chr2:191398416-191399940	K562	blood:	n/a	chr2:191399494-191399501 chr2:191399204-191399218 chr2:191399207-191399221 chr2:191399494-191399501 chr2:191399124-191399133 chr2:191399128-191399138 chr2:191399490-191399502 chr2:191399494-191399501 chr2:191399510-191399519
38	E2F6	chr2:191398998-191399740	K562	blood:	n/a	chr2:191399494-191399501 chr2:191399204-191399218 chr2:191399207-191399221 chr2:191399494-191399501 chr2:191399124-191399133 chr2:191399128-191399138 chr2:191399490-191399502 chr2:191399494-191399501 chr2:191399510-191399519
39	E2F6	chr2:191398965-191399751	A549	lung:	n/a	chr2:191399494-191399501 chr2:191399204-191399218 chr2:191399207-191399221 chr2:191399494-191399501 chr2:191399124-191399133 chr2:191399128-191399138 chr2:191399490-191399502 chr2:191399494-191399501 chr2:191399510-191399519
40	E2F6	chr2:191398578-191399819	H1-hESC	embryonic stem cell:	n/a	chr2:191399494-191399501 chr2:191399204-191399218 chr2:191399207-191399221 chr2:191399494-191399501 chr2:191399124-191399133 chr2:191399128-191399138 chr2:191399490-191399502 chr2:191399494-191399501 chr2:191399510-191399519
41	E2F6	chr2:191398980-191399885	K562	blood:	n/a	chr2:191399494-191399501 chr2:191399204-191399218 chr2:191399207-191399221 chr2:191399494-191399501 chr2:191399124-191399133 chr2:191399128-191399138 chr2:191399490-191399502 chr2:191399494-191399501 chr2:191399510-191399519
42	E2F6	chr2:191398505-191399943	A549	lung:	n/a	chr2:191399494-191399501 chr2:191399204-191399218 chr2:191399207-191399221 chr2:191399494-191399501 chr2:191399124-191399133 chr2:191399128-191399138 chr2:191399490-191399502 chr2:191399494-191399501 chr2:191399510-191399519
43	E2F6	chr2:191399005-191399810	Hela-S3	cervix:	n/a	chr2:191399494-191399501 chr2:191399204-191399218 chr2:191399207-191399221 chr2:191399494-191399501 chr2:191399124-191399133 chr2:191399128-191399138 chr2:191399490-191399502 chr2:191399494-191399501 chr2:191399510-191399519
44	E2F6	chr2:191398816-191399985	H1-hESC	embryonic stem cell:	n/a	chr2:191399494-191399501 chr2:191399204-191399218 chr2:191399207-191399221 chr2:191399494-191399501 chr2:191399124-191399133 chr2:191399128-191399138 chr2:191399490-191399502 chr2:191399494-191399501 chr2:191399510-191399519
45	EBF1	chr2:191398431-191399913	GM12878	blood:	n/a	chr2:191399412-191399423
46	EBF1	chr2:191398501-191399885	GM12878	blood:	n/a	chr2:191399412-191399423
47	ELF1	chr2:191399054-191399846	K562	blood:	n/a	chr2:191399562-191399574 chr2:191399469-191399481
48	ELF1	chr2:191398851-191399877	GM12878	blood:	n/a	chr2:191399562-191399574 chr2:191399469-191399481
49	ELF1	chr2:191398514-191399900	GM12878	blood:	n/a	chr2:191399562-191399574 chr2:191399469-191399481
50	ELF1	chr2:191398826-191399571	K562	blood:	n/a	chr2:191399469-191399481

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:191399046-191399096	HCPEpiC	choroid plexus:	n/a
2	chr2:191399046-191399096	HRPEpiC	eye:	n/a
3	chr2:191399046-191399096	SKMC	muscle:	n/a
4	chr2:191399046-191399096	NT2-D1	testis:	n/a
5	chr2:191399046-191399096	HIPEpiC	eye:	n/a
6	chr2:191399046-191399096	IMR90	lung:	fetal
7	chr2:191399046-191399096	CMK	blood:	n/a
8	chr2:191399046-191399096	AG09319	gingival:	n/a
9	chr2:191399046-191399096	K562	blood:	n/a
10	chr2:191399046-191399096	NHDF-neo	bronchial:	n/a
11	chr2:191399046-191399096	MCF10A-Er-Src	breast:	n/a
12	chr2:191399046-191399096	LNCaP	prostate:	n/a
13	chr2:191399046-191399096	HCM	heart:	n/a
14	chr2:191399046-191399096	Hela-S3	cervix:	n/a
15	chr2:191399046-191399096	HCF	heart:	n/a
16	chr2:191399046-191399096	GM12891	blood:	n/a
17	chr2:191399046-191399096	PrEC	prostate:	n/a
18	chr2:191399046-191399096	H1-hESC	embryonic stem cell:	embryo
19	chr2:191399046-191399096	NB4	blood:	n/a
20	chr2:191399046-191399096	HRE	kidney:	n/a
21	chr2:191399046-191399096	ovcar-3	ovarian:	n/a
22	chr2:191399046-191399096	SK-N-SH_RA	brain:	n/a
23	chr2:191399046-191399096	HEEpiC	esophagus:	n/a
24	chr2:191399046-191399096	Hepatocyte	liver:	n/a
25	chr2:191399046-191399096	PFSK-1	brain:	n/a
26	chr2:191399046-191399096	A549	lung:	n/a
27	chr2:191399046-191399096	BE2_C	brain:	n/a
28	chr2:191399046-191399096	HAEpiC	amniotic membrane:	n/a
29	chr2:191399046-191399096	GM19239	blood:	n/a
30	chr2:191399046-191399096	HRCEpiC	kidney:	n/a
31	chr2:191399046-191399096	SAEC	small airway:	n/a
32	chr2:191399046-191399096	NHBE	bronchial:	n/a
33	chr2:191399046-191399096	AG04450	lung:	fetal
34	chr2:191399046-191399096	SK-N-MC	brain:	n/a
35	chr2:191399046-191399096	SK-N-SH	brain:	n/a
36	chr2:191399046-191399096	HL-60	blood:	n/a
37	chr2:191399046-191399096	U87	brain:	n/a
38	chr2:191399046-191399096	T-47D	breast:	n/a
39	chr2:191399046-191399096	HNPCEpiC	eye:	n/a
40	chr2:191399046-191399096	AG10803	skin:	n/a
41	chr2:191399046-191399096	AoSMC	blood vessel:	n/a
42	chr2:191399046-191399096	AG09309	skin:	n/a
43	chr2:191399046-191399096	Jurkat	blood:	n/a
44	chr2:191399046-191399096	HEK293	kidney:	embryo
45	chr2:191399046-191399096	ECC-1	luminal epithelium:	n/a
46	chr2:191399046-191399096	HUVEC	blood vessel:	n/a
47	chr2:191399046-191399096	RPTEC	kidney:	n/a
48	chr2:191399046-191399096	HCT-116	colon:	n/a
49	chr2:191399046-191399096	Caco-2	colon:	n/a
50	chr2:191399046-191399096	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:191397324..191399612-chr2:191415383..191418342,2	MCF-7	breast:
2	chr2:191398826..191399506-chr5:43483586..43484093,2	Hela-S3	cervix:
3	chr12:27933434..27934346-chr2:191398826..191399467,2	Hela-S3	cervix:
4	chr2:191389345..191393382-chr2:191397304..191400533,4	MCF-7	breast:
5	chr10:28821440..28822290-chr2:191398453..191399166,2	NB4	blood:
6	chr2:191271812..191274120-chr2:191398223..191400840,2	K562	blood:
7	chr2:191397736..191401145-chr2:191512338..191515436,3	K562	blood:
8	chr17:56735377..56737790-chr2:191398631..191400181,2	MCF-7	breast:
9	chr2:191398910..191400669-chr2:191512631..191515436,2	K562	blood:
10	chr11:62608608..62609474-chr2:191399064..191400024,3	Hela-S3	cervix:
11	chr2:191397602..191400323-chr2:191511853..191515845,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233654	TF binding region
TMEM194B	TF binding region
ENSG00000233654	CpG island
TMEM194B	CpG island
ENSG00000251935	chromatin interactions
ENSG00000087448	chromatin interactions
ENSG00000254635	chromatin interactions
ENSG00000138386	chromatin interactions
ENSG00000189362	chromatin interactions
ENSG00000151690	chromatin interactions
ENSG00000256747	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000095787	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 47 )

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	rs140125896	chr2:191399083-191399084	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191397800-191401000	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr2:191398000-191401000	Active TSS	GM12878-XiMat	blood
3	chr2:191398200-191399200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:191398200-191399200	Flanking Active TSS	Fetal Thymus	thymus
5	chr2:191398200-191399200	Flanking Active TSS	K562	blood
6	chr2:191398200-191400000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:191398200-191400000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:191398200-191401200	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr2:191398400-191399200	Active TSS	Right Atrium	heart
10	chr2:191398400-191399800	Flanking Active TSS	HMEC	breast
11	chr2:191398400-191400000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr2:191398400-191400000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:191398400-191400000	Active TSS	Lung	lung
14	chr2:191398400-191400200	Active TSS	Psoas Muscle	Psoas
15	chr2:191398400-191400400	Active TSS	Aorta	Aorta
16	chr2:191398400-191400600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:191398600-191399200	Flanking Active TSS	HSMM	muscle
18	chr2:191398600-191399600	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr2:191398600-191400000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:191398600-191400000	Active TSS	Esophagus	oesophagus
21	chr2:191398600-191400000	Active TSS	Ovary	ovary
22	chr2:191398600-191400400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:191398800-191399800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:191398800-191399800	Active TSS	Primary T cells from cord blood	blood
25	chr2:191398800-191399800	Active TSS	Small Intestine	intestine
26	chr2:191398800-191399800	Active TSS	Spleen	Spleen
27	chr2:191398800-191400000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:191398800-191400000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:191398800-191400000	Active TSS	Brain Angular Gyrus	brain
30	chr2:191398800-191400000	Active TSS	Gastric	stomach
31	chr2:191398800-191400000	Active TSS	Left Ventricle	heart
32	chr2:191398800-191400000	Active TSS	Pancreas	Pancrea
33	chr2:191398800-191400000	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr2:191398800-191400200	Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr2:191398800-191400200	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr2:191398800-191400200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr2:191398800-191400200	Active TSS	Brain Anterior Caudate	brain
38	chr2:191398800-191400200	Active TSS	Brain Substantia Nigra	brain
39	chr2:191398800-191400200	Active TSS	Duodenum Mucosa	Duodenum
40	chr2:191398800-191400200	Active TSS	Fetal Lung	lung
41	chr2:191398800-191400200	Active TSS	Placenta	Placenta
42	chr2:191398800-191400200	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr2:191398800-191400200	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr2:191398800-191400400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:191398800-191400400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:191398800-191400400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:191398800-191400400	Active TSS	Stomach Smooth Muscle	stomach
48	chr2:191398800-191400400	Active TSS	Thymus	Thymus
49	chr2:191398800-191400600	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr2:191398800-191400600	Active TSS	Breast Myoepithelial Primary Cells	Breast

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