Variant report

Variant	esv14236
Chromosome Location	chr2:234263148-234263763
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	BACH1	chr2:234263723-234263984	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr2:234263584-234263970	GM12878	blood:	n/a	chr2:234263690-234263706 chr2:234263683-234263699
3	CCNT2	chr2:234263138-234263393	K562	blood:	n/a	n/a
4	CHD2	chr2:234262322-234263203	Hela-S3	cervix:	n/a	n/a
5	CHD2	chr2:234262645-234263169	GM12878	blood:	n/a	n/a
6	CHD2	chr2:234263733-234263918	GM12878	blood:	n/a	n/a
7	CREB1	chr2:234263143-234263404	A549	lung:	n/a	n/a
8	CTCF	chr2:234262842-234263155	Pancreas_OC	pancreas:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
9	CTCF	chr2:234262893-234263160	MCF-7	breast:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
10	CTCF	chr2:234262887-234263159	Spleen_OC	spleen:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
11	CTCF	chr2:234262912-234263165	LNCaP	prostate:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
12	CTCF	chr2:234263000-234263150	HPAF	blood vessel:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
13	CTCF	chr2:234262686-234263211	IMR90	lung:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
14	CTCF	chr2:234262717-234263201	K562	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
15	CTCF	chr2:234262710-234263224	GM12878	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
16	CTCF	chr2:234262902-234263149	GM10266	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
17	CTCF	chr2:234262855-234263289	K562	blood:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
18	CTCF	chr2:234262292-234263363	SK-N-SH	brain:	n/a	chr2:234263032-234263050 chr2:234263035-234263048 chr2:234263035-234263048 chr2:234263033-234263049
19	E2F6	chr2:234263118-234263269	K562	blood:	n/a	n/a
20	EGR1	chr2:234262778-234263161	GM12878	blood:	n/a	chr2:234262958-234262968 chr2:234263073-234263087
21	EGR1	chr2:234262807-234263313	GM12878	blood:	n/a	chr2:234262958-234262968 chr2:234263073-234263087
22	EGR1	chr2:234262781-234263322	K562	blood:	n/a	chr2:234262958-234262968 chr2:234263073-234263087
23	EGR1	chr2:234262819-234263283	K562	blood:	n/a	chr2:234262958-234262968 chr2:234263073-234263087
24	ELF1	chr2:234262601-234263475	GM12878	blood:	n/a	n/a
25	ETS1	chr2:234263091-234263327	K562	blood:	n/a	n/a
26	HCFC1	chr2:234263147-234263412	K562	blood:	n/a	n/a
27	HEY1	chr2:234263108-234263336	K562	blood:	n/a	n/a
28	HEY1	chr2:234263110-234263348	HepG2	liver:	n/a	n/a
29	HEY1	chr2:234263067-234263358	HepG2	liver:	n/a	n/a
30	HEY1	chr2:234263077-234263424	K562	blood:	n/a	n/a
31	HMGN3	chr2:234263606-234263806	K562	blood:	n/a	n/a
32	HMGN3	chr2:234262262-234263393	K562	blood:	n/a	chr2:234262456-234262463
33	JUND	chr2:234262861-234263436	A549	lung:	n/a	n/a
34	MAX	chr2:234263734-234264112	NB4	blood:	n/a	n/a
35	MAX	chr2:234263579-234264404	A549	lung:	n/a	n/a
36	MAX	chr2:234263018-234263359	K562	blood:	n/a	chr2:234263057-234263067 chr2:234263026-234263035
37	MAX	chr2:234263145-234263400	Hela-S3	cervix:	n/a	n/a
38	MAX	chr2:234262133-234263287	A549	lung:	n/a	chr2:234263057-234263067 chr2:234262959-234262969 chr2:234263026-234263035
39	MAX	chr2:234263576-234263832	K562	blood:	n/a	n/a
40	MAX	chr2:234262045-234263528	A549	lung:	n/a	chr2:234263057-234263067 chr2:234262959-234262969 chr2:234263026-234263035
41	MAZ	chr2:234262340-234263346	GM12878	blood:	n/a	chr2:234263057-234263067 chr2:234262959-234262969 chr2:234263026-234263035
42	MAZ	chr2:234262781-234263356	HepG2	liver:	n/a	chr2:234263057-234263067 chr2:234262959-234262969 chr2:234263026-234263035
43	MAZ	chr2:234262464-234264013	IMR90	lung:	n/a	chr2:234263057-234263067 chr2:234262959-234262969 chr2:234263026-234263035
44	MAZ	chr2:234262337-234263350	Hela-S3	cervix:	n/a	chr2:234263057-234263067 chr2:234262959-234262969 chr2:234263026-234263035
45	MAZ	chr2:234262219-234263331	K562	blood:	n/a	chr2:234263057-234263067 chr2:234262959-234262969 chr2:234263026-234263035
46	MAZ	chr2:234263644-234263840	K562	blood:	n/a	n/a
47	MTA3	chr2:234263600-234264254	GM12878	blood:	n/a	n/a
48	MXI1	chr2:234262293-234264155	IMR90	lung:	n/a	chr2:234262351-234262360 chr2:234264104-234264113
49	MXI1	chr2:234262369-234263383	HepG2	liver:	n/a	n/a
50	MXI1	chr2:234263231-234263311	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234263251-234263301	ECC-1	luminal epithelium:	n/a
2	chr2:234263251-234263301	GM19239	blood:	n/a
3	chr2:234263251-234263301	GM12892	blood:	n/a
4	chr2:234263251-234263301	HNPCEpiC	eye:	n/a
5	chr2:234263251-234263301	MCF10A-Er-Src	breast:	n/a
6	chr2:234263251-234263301	T-47D	breast:	n/a
7	chr2:234263251-234263301	HMEC	breast:	n/a
8	chr2:234263251-234263301	MCF-7	breast:	n/a
9	chr2:234263251-234263301	NH-A	brain:	n/a
10	chr2:234263251-234263301	PrEC	prostate:	n/a
11	chr2:234263251-234263301	NHDF-neo	bronchial:	n/a
12	chr2:234263251-234263301	HL-60	blood:	n/a
13	chr2:234263251-234263301	PFSK-1	brain:	n/a
14	chr2:234263251-234263301	PANC-1	pancreas:	n/a
15	chr2:234263251-234263301	SK-N-SH	brain:	n/a
16	chr2:234263251-234263301	IMR90	lung:	fetal
17	chr2:234263251-234263301	HEEpiC	esophagus:	n/a
18	chr2:234263251-234263301	HCF	heart:	n/a
19	chr2:234263251-234263301	AG04450	lung:	fetal
20	chr2:234263251-234263301	HRCEpiC	kidney:	n/a
21	chr2:234263251-234263301	GM06990	blood:	n/a
22	chr2:234263251-234263301	RPTEC	kidney:	n/a
23	chr2:234263251-234263301	U87	brain:	n/a
24	chr2:234263251-234263301	Jurkat	blood:	n/a
25	chr2:234263251-234263301	HIPEpiC	eye:	n/a
26	chr2:234263251-234263301	HAEpiC	amniotic membrane:	n/a
27	chr2:234263251-234263301	K562	blood:	n/a
28	chr2:234263251-234263301	BJ	skin:	n/a
29	chr2:234263251-234263301	Hela-S3	cervix:	n/a
30	chr2:234263251-234263301	SKMC	muscle:	n/a
31	chr2:234263251-234263301	SK-N-MC	brain:	n/a
32	chr2:234263251-234263301	CMK	blood:	n/a
33	chr2:234263251-234263301	HepG2	liver:	n/a
34	chr2:234263251-234263301	NB4	blood:	n/a
35	chr2:234263251-234263301	AG04449	skin:	fetal
36	chr2:234263251-234263301	HCT-116	colon:	n/a
37	chr2:234263251-234263301	HEK293	kidney:	embryo
38	chr2:234263251-234263301	SK-N-SH_RA	brain:	n/a
39	chr2:234263251-234263301	HPAEpiC	pulmonary alveolar:	n/a
40	chr2:234263251-234263301	ProgFib	skin:	n/a
41	chr2:234263251-234263301	SAEC	small airway:	n/a
42	chr2:234263251-234263301	BE2_C	brain:	n/a
43	chr2:234263251-234263301	AoSMC	blood vessel:	n/a
44	chr2:234263251-234263301	AG09319	gingival:	n/a
45	chr2:234263251-234263301	NHBE	bronchial:	n/a
46	chr2:234263251-234263301	AG09309	skin:	n/a
47	chr2:234263251-234263301	HCPEpiC	choroid plexus:	n/a
48	chr2:234263251-234263301	ovcar-3	ovarian:	n/a
49	chr2:234263251-234263301	GM12891	blood:	n/a
50	chr2:234263251-234263301	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:234242282..234244298-chr2:234262922..234265541,2	MCF-7	breast:
2	chr2:234263725..234265766-chr2:234287688..234290576,3	MCF-7	breast:
3	chr2:234195095..234197515-chr2:234263227..234265841,2	MCF-7	breast:
4	chr2:234245499..234247293-chr2:234261946..234264130,2	K562	blood:
5	chr2:234160002..234161727-chr2:234263204..234265213,2	MCF-7	breast:
6	chr2:234259434..234265610-chr2:234290886..234296562,9	MCF-7	breast:
7	chr2:234198551..234200102-chr2:234262598..234264638,2	MCF-7	breast:
8	chr2:234263404..234265699-chr2:234319043..234321996,3	MCF-7	breast:
9	chr2:234238246..234240780-chr2:234263095..234264681,2	K562	blood:
10	chr2:233749631..233751772-chr2:234261254..234263295,2	MCF-7	breast:
11	chr2:234260930..234263276-chr20:55839671..55841991,2	MCF-7	breast:

Variant related genes	Relation type
DGKD	TF binding region
ENSG00000259793	TF binding region
ENSG00000243637	TF binding region
DGKD	CpG island
ENSG00000259793	CpG island
ENSG00000243637	CpG island
ENSG00000101144	chromatin interactions
ENSG00000085978	chromatin interactions
ENSG00000130561	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000066248	chromatin interactions
ENSG00000251791	chromatin interactions
ENSG00000201013	chromatin interactions
ENSG00000077044	chromatin interactions

Extended variants
information (count: 5 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191197082	chr2:234263449-234263450	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs532337881	chr2:234263655-234263656	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs552173826	chr2:234263670-234263671	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs562556803	chr2:234263724-234263725	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs569185364	chr2:234263742-234263743	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234259400-234263200	Weak transcription	Small Intestine	intestine
2	chr2:234262000-234263800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr2:234262200-234264000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr2:234262200-234264000	Active TSS	Rectal Smooth Muscle	rectum
5	chr2:234262200-234264200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:234262400-234263600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:234262400-234263800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:234262400-234263800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:234262400-234264200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:234262400-234264400	Active TSS	Fetal Kidney	kidney
11	chr2:234262400-234265000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr2:234262600-234263600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:234262600-234263600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:234262600-234263800	Active TSS	Spleen	Spleen
15	chr2:234262600-234264000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr2:234262600-234264000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:234262600-234264000	Active TSS	Colon Smooth Muscle	Colon
18	chr2:234262600-234264000	Active TSS	Lung	lung
19	chr2:234262600-234264000	Bivalent/Poised TSS	HepG2	liver
20	chr2:234262600-234264200	Active TSS	Aorta	Aorta
21	chr2:234262600-234264200	Active TSS	Gastric	stomach
22	chr2:234262600-234264600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr2:234262600-234265000	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr2:234262800-234263200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:234262800-234263200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:234262800-234263600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:234262800-234263600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:234262800-234263600	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr2:234262800-234263600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:234262800-234263600	Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr2:234262800-234263600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:234262800-234263600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:234262800-234263600	Active TSS	Adipose Nuclei	Adipose
34	chr2:234262800-234263600	Active TSS	Brain Germinal Matrix	brain
35	chr2:234262800-234263600	Active TSS	Fetal Muscle Trunk	muscle
36	chr2:234262800-234263600	Active TSS	Placenta	Placenta
37	chr2:234262800-234263600	Active TSS	Psoas Muscle	Psoas
38	chr2:234262800-234263600	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr2:234262800-234263600	Active TSS	Thymus	Thymus
40	chr2:234262800-234263800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:234262800-234263800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:234262800-234263800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:234262800-234263800	Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr2:234262800-234263800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:234262800-234263800	Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr2:234262800-234263800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr2:234262800-234263800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:234262800-234263800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:234262800-234263800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:234262800-234263800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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