Variant report

Variant	esv3447837
Chromosome Location	chr12:32157285-32159308
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	chr12:32158464-32158892	K562	blood:	n/a	n/a
2	ATF1	chr12:32158405-32158812	K562	blood:	n/a	n/a
3	ATF3	chr12:32158396-32158863	K562	blood:	n/a	n/a
4	BACH1	chr12:32158509-32158692	K562	blood:	n/a	n/a
5	BCL3	chr12:32158395-32158935	K562	blood:	n/a	n/a
6	BHLHE40	chr12:32158382-32158887	K562	blood:	n/a	chr12:32158666-32158682
7	CBX3	chr12:32158326-32158884	K562	blood:	n/a	n/a
8	CBX3	chr12:32158375-32158825	K562	blood:	n/a	n/a
9	CCNT2	chr12:32158382-32158845	K562	blood:	n/a	n/a
10	CEBPB	chr12:32158386-32158901	K562	blood:	n/a	n/a
11	CEBPB	chr12:32158368-32159073	K562	blood:	n/a	n/a
12	CEBPD	chr12:32158325-32158975	K562	blood:	n/a	n/a
13	CEBPD	chr12:32158377-32158978	K562	blood:	n/a	n/a
14	CHD2	chr12:32158505-32158852	K562	blood:	n/a	n/a
15	CREB1	chr12:32158315-32158947	K562	blood:	n/a	chr12:32158851-32158864
16	CREB1	chr12:32158395-32158834	K562	blood:	n/a	n/a
17	CTCF	chr12:32158403-32158958	K562	blood:	n/a	chr12:32158559-32158567
18	CUX1	chr12:32158461-32158844	K562	blood:	n/a	n/a
19	EGR1	chr12:32159196-32159466	K562	blood:	n/a	n/a
20	ELK1	chr12:32158516-32158695	K562	blood:	n/a	n/a
21	EP300	chr12:32158394-32158908	K562	blood:	n/a	n/a
22	EP300	chr12:32158349-32158936	K562	blood:	n/a	n/a
23	ETS1	chr12:32158439-32158746	K562	blood:	n/a	n/a
24	ETS1	chr12:32158380-32158740	K562	blood:	n/a	n/a
25	FOSL1	chr12:32158448-32158752	K562	blood:	n/a	n/a
26	GABPA	chr12:32158432-32158748	K562	blood:	n/a	n/a
27	GABPA	chr12:32158380-32158777	K562	blood:	n/a	n/a
28	GATA1	chr12:32158432-32158878	PBDEFetal	blood:	n/a	chr12:32158542-32158551
29	GATA1	chr12:32158392-32159122	K562	blood:	n/a	chr12:32158542-32158551
30	GATA1	chr12:32158302-32159627	PBDE	blood:	n/a	chr12:32158542-32158551
31	GATA1	chr12:32158396-32158843	K562	blood:	n/a	chr12:32158542-32158551
32	GATA2	chr12:32158281-32158961	K562	blood:	n/a	chr12:32158542-32158551
33	GATA2	chr12:32158373-32158882	K562	blood:	n/a	chr12:32158542-32158551
34	GATA2	chr12:32158368-32158882	K562	blood:	n/a	chr12:32158542-32158551
35	GATA2	chr12:32158467-32158738	HUVEC	blood vessel:	n/a	chr12:32158542-32158551
36	GTF2F1	chr12:32158517-32158693	K562	blood:	n/a	n/a
37	HCFC1	chr12:32158471-32158823	K562	blood:	n/a	n/a
38	HDAC2	chr12:32158375-32158747	K562	blood:	n/a	chr12:32158541-32158550
39	HMGN3	chr12:32158388-32158859	K562	blood:	n/a	n/a
40	IRF1	chr12:32158435-32158895	K562	blood:	n/a	chr12:32158780-32158796
41	IRF1	chr12:32158377-32158845	K562	blood:	n/a	chr12:32158780-32158796
42	JUN	chr12:32158402-32158986	K562	blood:	n/a	n/a
43	JUN	chr12:32158367-32159074	K562	blood:	n/a	n/a
44	JUND	chr12:32158390-32158904	K562	blood:	n/a	n/a
45	MAFF	chr12:32158417-32158837	K562	blood:	n/a	n/a
46	MAFK	chr12:32158443-32159026	K562	blood:	n/a	n/a
47	MAX	chr12:32158399-32159001	K562	blood:	n/a	n/a
48	MAX	chr12:32158366-32158792	K562	blood:	n/a	n/a
49	MAX	chr12:32158459-32158795	K562	blood:	n/a	n/a
50	MAX	chr12:32158556-32158697	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32110978..32112717-chr12:32158767..32160498,2	K562	blood:

Variant related genes	Relation type
ENSG00000257094	TF binding region
ENSG00000174718	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10844092	chr12:32157341-32157342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567956821	chr12:32157365-32157366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545645848	chr12:32157393-32157394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10771900	chr12:32157408-32157409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572840828	chr12:32157434-32157435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556900123	chr12:32157489-32157490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571784855	chr12:32157491-32157492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538875602	chr12:32157504-32157505	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs370274547	chr12:32157508-32157509	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs373724071	chr12:32157509-32157510	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs59082216	chr12:32157527-32157528	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs142472708	chr12:32157528-32157529	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs55751142	chr12:32157532-32157533	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs150464745	chr12:32157533-32157534	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs377425200	chr12:32157538-32157539	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs66812719	chr12:32157543-32157544	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs111425607	chr12:32157689-32157690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73298659	chr12:32157694-32157695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116830264	chr12:32157695-32157696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567163659	chr12:32157702-32157703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10844093	chr12:32157753-32157754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549580658	chr12:32157895-32157896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371535549	chr12:32157935-32157936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71064909	chr12:32158001-32158002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532690549	chr12:32158002-32158003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11051729	chr12:32158003-32158004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371166766	chr12:32158005-32158006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375620503	chr12:32158007-32158008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191641528	chr12:32158020-32158021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184642937	chr12:32158026-32158027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562568158	chr12:32158075-32158076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372639525	chr12:32158091-32158092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56379212	chr12:32158098-32158099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368275508	chr12:32158106-32158107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372057682	chr12:32158110-32158111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373975692	chr12:32158114-32158115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56171971	chr12:32158120-32158121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368058539	chr12:32158122-32158123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71440992	chr12:32158123-32158124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60374856	chr12:32158129-32158130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386376143	chr12:32158130-32158131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544051575	chr12:32158132-32158133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71638088	chr12:32158136-32158137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56270093	chr12:32158140-32158141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56118959	chr12:32158146-32158147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386376144	chr12:32158148-32158149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569447199	chr12:32158152-32158153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56250769	chr12:32158164-32158165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185485993	chr12:32158168-32158169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183750781	chr12:32158176-32158177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32137200-32158600	Weak transcription	HUVEC	blood vessel
2	chr12:32143800-32158400	Weak transcription	Fetal Heart	heart
3	chr12:32151200-32158000	Weak transcription	GM12878-XiMat	blood
4	chr12:32151200-32162400	Weak transcription	Fetal Kidney	kidney
5	chr12:32151200-32163400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:32151200-32164400	Weak transcription	Brain Anterior Caudate	brain
7	chr12:32151400-32160000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:32151600-32158600	Weak transcription	Right Ventricle	heart
9	chr12:32152400-32158600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:32152400-32162600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:32152800-32158600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:32152800-32162000	Weak transcription	Pancreas	Pancrea
13	chr12:32152800-32165600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:32152800-32165600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:32154000-32163600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:32154000-32165400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:32154200-32157400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:32154200-32161800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:32154200-32161800	Weak transcription	Fetal Stomach	stomach
20	chr12:32154200-32163400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:32154200-32165400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:32154400-32157400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:32154400-32157600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:32154400-32158400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:32154400-32158400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:32154400-32159000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:32154400-32163400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:32154400-32165400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:32154400-32177800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:32154400-32178400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:32154800-32157400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr12:32154800-32158400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:32154800-32158400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:32154800-32158600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:32154800-32160000	Weak transcription	Placenta	Placenta
36	chr12:32154800-32160400	Weak transcription	Fetal Thymus	thymus
37	chr12:32154800-32162000	Weak transcription	Left Ventricle	heart
38	chr12:32154800-32163400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:32154800-32163400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:32154800-32163600	Weak transcription	A549	lung
41	chr12:32154800-32165600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:32154800-32167800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:32154800-32178000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:32154800-32179400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:32155000-32165400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:32155200-32158400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:32155800-32173600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:32156000-32163000	Weak transcription	Fetal Intestine Small	intestine
49	chr12:32156000-32163400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:32156200-32164800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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