Variant report

Variant	esv13281
Chromosome Location	chr12:122185141-122186306
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	ATF3	chr12:122186269-122187325	A549	lung:	n/a	n/a
2	BCL3	chr12:122186184-122187268	A549	lung:	n/a	n/a
3	BCL3	chr12:122186167-122187242	A549	lung:	n/a	n/a
4	CBX3	chr12:122186272-122187455	K562	blood:	n/a	chr12:122187076-122187087
5	CREB1	chr12:122186068-122187186	A549	lung:	n/a	n/a
6	CREB1	chr12:122186119-122187271	K562	blood:	n/a	n/a
7	CTCF	chr12:122186280-122186430	HRE	kidney:	n/a	n/a
8	CTCF	chr12:122185083-122185150	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr12:122186223-122187110	K562	blood:	n/a	chr12:122186694-122186703
10	E2F6	chr12:122186094-122187204	A549	lung:	n/a	chr12:122186694-122186703
11	ELF1	chr12:122186160-122187269	MCF-7	breast:	n/a	chr12:122186675-122186687
12	EP300	chr12:122186132-122187436	A549	lung:	n/a	n/a
13	EP300	chr12:122186260-122187296	MCF-7	breast:	n/a	n/a
14	EP300	chr12:122186097-122187324	A549	lung:	n/a	n/a
15	ETS1	chr12:122186105-122187176	A549	lung:	n/a	n/a
16	FOSL2	chr12:122186178-122187397	A549	lung:	n/a	chr12:122186877-122186886 chr12:122186693-122186702
17	FOSL2	chr12:122185664-122186169	HepG2	liver:	n/a	n/a
18	FOXM1	chr12:122186157-122187333	MCF-7	breast:	n/a	n/a
19	GATA3	chr12:122186136-122187468	A549	lung:	n/a	chr12:122186477-122186484 chr12:122186475-122186485 chr12:122186475-122186484
20	GATA3	chr12:122186226-122187175	MCF-7	breast:	n/a	chr12:122186477-122186484 chr12:122186475-122186485 chr12:122186475-122186484
21	GATA3	chr12:122186180-122187365	MCF-7	breast:	n/a	chr12:122186477-122186484 chr12:122186475-122186485 chr12:122186475-122186484
22	HDAC2	chr12:122186163-122187335	MCF-7	breast:	n/a	chr12:122186476-122186485
23	JUN	chr12:122186101-122187534	K562	blood:	n/a	chr12:122186877-122186886 chr12:122186693-122186702 chr12:122186873-122186886
24	JUND	chr12:122186218-122187280	A549	lung:	n/a	chr12:122186877-122186886 chr12:122186693-122186702
25	JUND	chr12:122185730-122186095	HepG2	liver:	n/a	n/a
26	MAX	chr12:122186082-122187393	MCF-7	breast:	n/a	chr12:122186697-122186708
27	MAX	chr12:122186077-122187479	A549	lung:	n/a	chr12:122186697-122186708
28	MAX	chr12:122186091-122187400	A549	lung:	n/a	chr12:122186697-122186708
29	MAX	chr12:122186169-122187024	A549	lung:	n/a	chr12:122186697-122186708
30	MAZ	chr12:122186100-122187497	IMR90	lung:	n/a	chr12:122186697-122186708
31	NR2F2	chr12:122186304-122187270	K562	blood:	n/a	n/a
32	NR2F2	chr12:122186193-122187273	MCF-7	breast:	n/a	n/a
33	NR3C1	chr12:122185755-122187151	A549	lung:	n/a	chr12:122186880-122186906 chr12:122186593-122186600 chr12:122187002-122187011 chr12:122186622-122186631
34	NR3C1	chr12:122185701-122187286	A549	lung:	n/a	chr12:122186880-122186906 chr12:122186593-122186600 chr12:122187002-122187011 chr12:122186622-122186631 chr12:122187227-122187240
35	NR3C1	chr12:122185670-122187292	A549	lung:	n/a	chr12:122186880-122186906 chr12:122186593-122186600 chr12:122187002-122187011 chr12:122186622-122186631 chr12:122187227-122187240
36	PBX3	chr12:122185731-122186133	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:122185684-122186695	A549	lung:	n/a	n/a
38	POLR2A	chr12:122185723-122186718	A549	lung:	n/a	n/a
39	POLR2A	chr12:122185725-122186175	A549	lung:	n/a	n/a
40	POLR2A	chr12:122185742-122186121	GM12878	blood:	n/a	n/a
41	POU2F2	chr12:122185705-122186119	GM12878	blood:	n/a	n/a
42	POU2F2	chr12:122185702-122186091	GM12878	blood:	n/a	n/a
43	POU2F2	chr12:122185692-122186194	GM12891	blood:	n/a	n/a
44	RCOR1	chr12:122186306-122187246	K562	blood:	n/a	n/a
45	REST	chr12:122186117-122187376	A549	lung:	n/a	chr12:122187159-122187177
46	REST	chr12:122186265-122187020	A549	lung:	n/a	n/a
47	REST	chr12:122186275-122186614	K562	blood:	n/a	n/a
48	RXRA	chr12:122185789-122186102	GM12878	blood:	n/a	n/a
49	SIN3AK20	chr12:122186267-122187149	A549	lung:	n/a	n/a
50	SIN3AK20	chr12:122186231-122187338	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122184924..122187179-chr12:122189642..122193871,5	K562	blood:
2	chr12:122185135..122187179-chr12:122190114..122193871,4	K562	blood:
3	chr12:122185267..122187971-chr12:122239677..122241444,2	MCF-7	breast:
4	chr12:122147215..122155218-chr12:122185094..122190846,22	MCF-7	breast:
5	chr12:122180307..122182295-chr12:122185324..122187863,3	K562	blood:
6	chr12:122184835..122196012-chr12:122235281..122245445,27	MCF-7	breast:
7	chr12:121836861..121838700-chr12:122185043..122186944,2	K562	blood:
8	chr12:122181727..122184365-chr12:122185006..122187114,3	MCF-7	breast:
9	chr12:122149421..122152814-chr12:122185119..122186671,3	MCF-7	breast:
10	chr12:122133742..122136740-chr12:122185481..122187047,2	MCF-7	breast:
11	chr12:122184667..122189513-chr12:122211148..122219682,10	MCF-7	breast:
12	chr12:122148459..122151159-chr12:122185562..122188129,3	K562	blood:
13	chr12:122181102..122183945-chr12:122184844..122187780,3	MCF-7	breast:
14	chr12:122180307..122183056-chr12:122185275..122189745,5	K562	blood:
15	chr12:122185243..122188214-chr12:122238983..122240823,2	K562	blood:

Variant related genes	Relation type
TMEM120B	TF binding region
ENSG00000170633	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000188735	chromatin interactions
ENSG00000089053	chromatin interactions
ENSG00000139718	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000272849	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544843886	chr12:122185143-122185144	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs200338150	chr12:122185153-122185154	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs556692150	chr12:122185155-122185156	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs574890595	chr12:122185168-122185169	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs112557294	chr12:122185175-122185176	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs11043185	chr12:122185189-122185190	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs542342442	chr12:122185194-122185195	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs192443019	chr12:122185195-122185196	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs376984259	chr12:122185196-122185197	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs71079091	chr12:122185208-122185209	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs11043186	chr12:122185209-122185210	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs77045584	chr12:122185215-122185216	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs63686463	chr12:122185216-122185217	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs76362896	chr12:122185226-122185227	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs28457643	chr12:122185231-122185232	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs78702346	chr12:122185237-122185238	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs374284321	chr12:122185238-122185239	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs74521595	chr12:122185246-122185247	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs78688480	chr12:122185251-122185252	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs538338670	chr12:122185257-122185258	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs376057926	chr12:122185258-122185259	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs28472414	chr12:122185271-122185272	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs369301664	chr12:122185277-122185278	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs28447143	chr12:122185291-122185292	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs571807250	chr12:122185297-122185298	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs76983361	chr12:122185311-122185312	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs71079092	chr12:122185337-122185338	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs370450396	chr12:122185338-122185339	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs555140702	chr12:122185437-122185438	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs374401349	chr12:122185438-122185439	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs369603847	chr12:122185457-122185458	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs118198613	chr12:122185499-122185500	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs368218751	chr12:122185500-122185501	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs533946974	chr12:122185519-122185520	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs372805826	chr12:122185520-122185521	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs71444541	chr12:122185539-122185540	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs374494362	chr12:122185540-122185541	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs71444542	chr12:122185559-122185560	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs56011417	chr12:122185564-122185565	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs373793721	chr12:122185579-122185580	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs553950808	chr12:122185719-122185720	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs577023820	chr12:122185739-122185740	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs367747537	chr12:122185740-122185741	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs112866821	chr12:122185753-122185754	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs546083585	chr12:122185759-122185760	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs202155572	chr12:122185771-122185772	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs61952256	chr12:122185773-122185774	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs200441947	chr12:122185776-122185777	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs371505472	chr12:122185780-122185781	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs192384136	chr12:122185783-122185784	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122151600-122186200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:122152000-122188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:122152200-122186400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:122152200-122188000	Weak transcription	Brain Germinal Matrix	brain
5	chr12:122152200-122188000	Weak transcription	Dnd41	blood
6	chr12:122152200-122191600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:122152200-122191600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:122152200-122200200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:122152400-122188000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:122152800-122186200	Weak transcription	Pancreas	Pancrea
11	chr12:122154200-122200400	Weak transcription	Psoas Muscle	Psoas
12	chr12:122155200-122186400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:122155600-122186200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:122158800-122186200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:122158800-122186200	Weak transcription	NHDF-Ad	bronchial
16	chr12:122158800-122186400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:122159000-122186200	Weak transcription	NH-A	brain
18	chr12:122159200-122186400	Weak transcription	HSMM	muscle
19	chr12:122159400-122194800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:122163400-122186200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:122163600-122186200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:122163600-122186200	Weak transcription	Liver	Liver
23	chr12:122163600-122186600	Weak transcription	HSMMtube	muscle
24	chr12:122163600-122188000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:122163600-122188200	Weak transcription	Brain Anterior Caudate	brain
26	chr12:122163800-122186200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:122164800-122188200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:122166800-122186200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:122166800-122186200	Weak transcription	Thymus	Thymus
30	chr12:122166800-122186400	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:122167200-122186400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:122167600-122186200	Weak transcription	Spleen	Spleen
33	chr12:122170400-122186200	Weak transcription	Right Atrium	heart
34	chr12:122170600-122186200	Weak transcription	Placenta	Placenta
35	chr12:122172000-122186200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:122174200-122191800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:122176600-122186400	Weak transcription	Hela-S3	cervix
38	chr12:122176600-122187200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:122177800-122186200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:122179200-122186200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:122179800-122211000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:122180000-122186200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:122180000-122186200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:122180000-122186200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:122180200-122191400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr12:122180800-122186200	Weak transcription	Esophagus	oesophagus
47	chr12:122181000-122186200	Weak transcription	HUVEC	blood vessel
48	chr12:122181200-122186200	Weak transcription	Left Ventricle	heart
49	chr12:122181200-122186200	Weak transcription	Ovary	ovary
50	chr12:122181200-122186200	Weak transcription	HepG2	liver

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