Variant report

Variant	esv3325322
Chromosome Location	chr2:127432782-127437080
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	BCL3	chr2:127434513-127435247	GM12878	blood:	n/a	n/a
2	BCL3	chr2:127434589-127435177	GM12878	blood:	n/a	n/a
3	BHLHE40	chr2:127434883-127434932	K562	blood:	n/a	n/a
4	BRCA1	chr2:127434746-127434749	GM12878	blood:	n/a	n/a
5	CBX3	chr2:127434326-127434831	K562	blood:	n/a	n/a
6	CBX3	chr2:127432901-127433637	K562	blood:	n/a	n/a
7	CBX3	chr2:127433109-127433587	K562	blood:	n/a	n/a
8	ELF1	chr2:127434282-127434753	K562	blood:	n/a	n/a
9	EP300	chr2:127434386-127434860	K562	blood:	n/a	n/a
10	GABPA	chr2:127434382-127434695	K562	blood:	n/a	n/a
11	GATA1	chr2:127433721-127434965	PBDE	blood:	n/a	chr2:127434638-127434646 chr2:127434481-127434491
12	GATA1	chr2:127430708-127432856	PBDE	blood:	n/a	chr2:127431797-127431807 chr2:127431805-127431812 chr2:127431794-127431810 chr2:127431799-127431816 chr2:127431796-127431808
13	GATA2	chr2:127434374-127434789	K562	blood:	n/a	chr2:127434638-127434646 chr2:127434481-127434491
14	GATA2	chr2:127434358-127434746	K562	blood:	n/a	chr2:127434638-127434646 chr2:127434481-127434491
15	HCFC1	chr2:127433275-127433276	K562	blood:	n/a	n/a
16	IRF1	chr2:127433243-127433708	K562	blood:	n/a	chr2:127433395-127433409 chr2:127433449-127433463 chr2:127433449-127433459 chr2:127433445-127433459 chr2:127433389-127433403 chr2:127433399-127433409
17	IRF1	chr2:127434395-127434773	K562	blood:	n/a	n/a
18	IRF1	chr2:127434403-127434863	K562	blood:	n/a	n/a
19	KAP1	chr2:127432945-127434453	K562	blood:	n/a	chr2:127433645-127433653
20	MAFF	chr2:127436526-127436719	HepG2	liver:	n/a	chr2:127436644-127436662
21	MAFK	chr2:127436580-127436667	HepG2	liver:	n/a	chr2:127436581-127436596 chr2:127436646-127436661
22	MAFK	chr2:127436526-127436772	HepG2	liver:	n/a	chr2:127436581-127436596 chr2:127436646-127436661
23	MYC	chr2:127434550-127434684	GM12878	blood:	n/a	n/a
24	MYC	chr2:127434468-127434735	K562	blood:	n/a	n/a
25	NFATC1	chr2:127434497-127435296	GM12878	blood:	n/a	n/a
26	NFATC1	chr2:127434562-127435133	GM12878	blood:	n/a	n/a
27	NR2F2	chr2:127434304-127434843	K562	blood:	n/a	n/a
28	PBX3	chr2:127434631-127435180	GM12878	blood:	n/a	n/a
29	POLR2A	chr2:127434583-127435241	GM12878	blood:	n/a	n/a
30	POLR2A	chr2:127432728-127432785	K562	blood:	n/a	n/a
31	POLR2A	chr2:127433120-127435557	K562	blood:	n/a	n/a
32	POLR2A	chr2:127427645-127432816	K562	blood:	n/a	n/a
33	POLR2A	chr2:127434494-127434986	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:127435181-127435347	K562	blood:	n/a	n/a
35	POLR2A	chr2:127434388-127434739	K562	blood:	n/a	n/a
36	POLR2A	chr2:127435911-127436413	HL-60	blood:	n/a	n/a
37	POLR2A	chr2:127433068-127433223	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:127436142-127436165	K562	blood:	n/a	n/a
39	POLR2A	chr2:127434493-127435314	GM12892	blood:	n/a	n/a
40	POLR2A	chr2:127434505-127434634	K562	blood:	n/a	n/a
41	POLR2A	chr2:127435922-127440609	K562	blood:	n/a	n/a
42	RCOR1	chr2:127434490-127434840	K562	blood:	n/a	n/a
43	RCOR1	chr2:127434350-127434685	K562	blood:	n/a	n/a
44	SETDB1	chr2:127432994-127433793	U2OS	brain:	n/a	n/a
45	STAT5A	chr2:127434606-127435414	GM12878	blood:	n/a	n/a
46	STAT5A	chr2:127434753-127435183	GM12878	blood:	n/a	n/a
47	TAL1	chr2:127433392-127433418	K562	blood:	n/a	n/a
48	TAL1	chr2:127434299-127434876	K562	blood:	n/a	n/a
49	TBL1XR1	chr2:127434400-127434961	K562	blood:	n/a	n/a
50	TEAD4	chr2:127434309-127434783	K562	blood:	n/a	chr2:127434752-127434761

No.	Distal block	Cell Line	Cell type
1	chr2:127433698..127435508-chr2:127441094..127442678,2	K562	blood:
2	chr2:127426020..127428369-chr2:127431324..127434102,4	K562	blood:
3	chr2:127434549..127436811-chr2:127437779..127440229,2	K562	blood:
4	chr2:127430614..127433355-chr2:127436468..127438269,2	K562	blood:
5	chr2:127430614..127434258-chr2:127435312..127438269,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC114783.1.1-6	chr2:127435877-127436463	NONHSAT074133

Variant related genes	Relation type
ENSG00000235128	TF binding region
ENSG00000235128	chromatin interactions

Extended variants
information (count: 222 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536054348	chr2:127432785-127432786	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs555633524	chr2:127432807-127432808	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566404253	chr2:127432847-127432848	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181933220	chr2:127432853-127432854	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557814414	chr2:127432866-127432867	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142224086	chr2:127432901-127432902	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532620074	chr2:127432916-127432917	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576484184	chr2:127432917-127432918	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543410283	chr2:127432961-127432962	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557030986	chr2:127432969-127432970	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs908641	chr2:127432998-127432999	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146403476	chr2:127433039-127433040	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187567012	chr2:127433040-127433041	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528402130	chr2:127433053-127433054	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544878335	chr2:127433119-127433120	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564806829	chr2:127433135-127433136	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189860098	chr2:127433136-127433137	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549866675	chr2:127433144-127433145	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570136498	chr2:127433153-127433154	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs28387147	chr2:127433221-127433222	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs377675410	chr2:127433258-127433259	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181486463	chr2:127433260-127433261	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139248339	chr2:127433261-127433262	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185977768	chr2:127433269-127433270	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571932464	chr2:127433274-127433275	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs537049114	chr2:127433315-127433316	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs556681815	chr2:127433355-127433356	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531707779	chr2:127433357-127433358	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs149995330	chr2:127433365-127433366	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs548413045	chr2:127433421-127433422	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs28387148	chr2:127433465-127433466	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs553159393	chr2:127433484-127433485	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541565888	chr2:127433513-127433514	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190091654	chr2:127433552-127433553	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs28387149	chr2:127433614-127433615	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564843607	chr2:127433642-127433643	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs530670843	chr2:127433672-127433673	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs543845050	chr2:127433689-127433690	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563518845	chr2:127433772-127433773	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs145199986	chr2:127433792-127433793	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549233079	chr2:127433798-127433799	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547565627	chr2:127433803-127433804	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs75133888	chr2:127433827-127433828	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182677112	chr2:127433836-127433837	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs184914669	chr2:127433910-127433911	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs6711745	chr2:127433923-127433924	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs28387150	chr2:127433966-127433967	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs563664562	chr2:127433993-127433994	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537337483	chr2:127434037-127434038	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs28387151	chr2:127434075-127434076	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127417200-127433000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:127417200-127443600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
4	chr2:127423800-127433200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:127424000-127432800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:127424200-127451000	Weak transcription	NHLF	lung
7	chr2:127424600-127447600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:127426000-127433000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:127427000-127434600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:127427400-127433000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:127427400-127434200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:127427600-127432800	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:127427800-127432800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:127428000-127446400	Weak transcription	NHDF-Ad	bronchial
15	chr2:127428400-127434400	Weak transcription	Esophagus	oesophagus
16	chr2:127429000-127432800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:127429000-127442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:127429400-127434200	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:127430000-127434000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr2:127430200-127433000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:127430400-127434400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr2:127430400-127436000	Weak transcription	Right Atrium	heart
23	chr2:127430600-127433600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:127430600-127434600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
25	chr2:127430800-127432800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:127430800-127444000	Weak transcription	Psoas Muscle	Psoas
27	chr2:127431000-127433200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:127431400-127432800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:127431400-127433200	ZNF genes & repeats	Lung	lung
30	chr2:127431400-127433600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:127431400-127434000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:127431400-127434400	Weak transcription	Right Ventricle	heart
33	chr2:127431400-127434800	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr2:127431600-127432800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:127431600-127432800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:127431600-127433000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:127431600-127433000	Weak transcription	Adipose Nuclei	Adipose
38	chr2:127431600-127433000	Weak transcription	Fetal Lung	lung
39	chr2:127431600-127433000	Weak transcription	Left Ventricle	heart
40	chr2:127431600-127433800	ZNF genes & repeats	Fetal Stomach	stomach
41	chr2:127431600-127436000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:127432000-127432800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:127432000-127433200	ZNF genes & repeats	Aorta	Aorta
44	chr2:127432000-127433800	ZNF genes & repeats	GM12878-XiMat	blood
45	chr2:127432000-127434000	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr2:127432000-127434800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:127432200-127432800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:127432200-127433000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:127432200-127433000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:127432200-127433000	Weak transcription	Stomach Smooth Muscle	stomach

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