Variant report

Variant	esv3356370
Chromosome Location	chr12:11320715-11321080
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	GATA3	chr12:11321044-11321548	SK-N-SH	brain:	n/a	chr12:11321200-11321209
2	GATA3	chr12:11321042-11321353	SK-N-SH	brain:	n/a	chr12:11321200-11321209
3	GATA3	chr12:11321079-11321438	MCF-7	breast:	n/a	chr12:11321200-11321209
4	JUND	chr12:11321050-11321342	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:11305022..11306977-chr12:11320566..11323484,2	MCF-7	breast:
2	chr12:11318981..11321975-chr12:11322024..11324803,4	MCF-7	breast:
3	chr12:11305963..11307778-chr12:11320595..11323061,2	MCF-7	breast:
4	chr12:11319524..11322672-chr12:11327790..11329876,3	K562	blood:

Variant related genes	Relation type
ENSG00000256537	TF binding region
ENSG00000111215	chromatin interactions
ENSG00000212127	chromatin interactions
ENSG00000256537	chromatin interactions
ENSG00000256712	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533395840	chr12:11320728-11320729	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs61928616	chr12:11320760-11320761	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566816012	chr12:11320761-11320762	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs200680037	chr12:11320799-11320800	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs535747365	chr12:11320800-11320801	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs549203280	chr12:11320803-11320804	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs11381863	chr12:11320804-11320805	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs568918235	chr12:11320807-11320808	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs376549881	chr12:11320810-11320811	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs11381862	chr12:11320812-11320813	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs66760114	chr12:11320813-11320814	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs200323019	chr12:11320815-11320816	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs201000094	chr12:11320816-11320817	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs374606140	chr12:11320820-11320821	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs561156178	chr12:11320838-11320839	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs574620902	chr12:11320842-11320843	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs186688609	chr12:11320850-11320851	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs191250265	chr12:11320854-11320855	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs11381858	chr12:11320879-11320880	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs9634122	chr12:11320890-11320891	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs370166455	chr12:11320894-11320895	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs200250560	chr12:11320898-11320899	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs201593774	chr12:11320902-11320903	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs148877193	chr12:11320906-11320907	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs187658275	chr12:11320910-11320911	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs557541196	chr12:11320922-11320923	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs531459184	chr12:11320940-11320941	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs113267733	chr12:11320952-11320953	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs202083201	chr12:11320968-11320969	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs201184079	chr12:11320972-11320973	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs368005494	chr12:11320977-11320978	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs200597281	chr12:11320987-11320988	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs201348818	chr12:11320993-11320994	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs200981887	chr12:11320994-11320995	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs371874292	chr12:11320995-11320996	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs368623834	chr12:11321000-11321001	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs113566905	chr12:11321003-11321004	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs373230024	chr12:11321004-11321005	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs374552348	chr12:11321020-11321021	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs577651492	chr12:11321029-11321030	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	17237825	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11270400-11323200	Weak transcription	Fetal Kidney	kidney
2	chr12:11273800-11321800	Weak transcription	Osteobl	bone
3	chr12:11291600-11321800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:11297800-11321600	Weak transcription	Brain Angular Gyrus	brain
5	chr12:11301600-11323200	Weak transcription	Colonic Mucosa	Colon
6	chr12:11302000-11321200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:11302600-11323200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:11303800-11323600	Weak transcription	Esophagus	oesophagus
9	chr12:11304000-11321200	Weak transcription	Fetal Brain Male	brain
10	chr12:11304000-11322600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:11304000-11323200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:11304000-11323200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:11304000-11323600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:11304200-11322000	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:11306400-11321400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:11307400-11321400	Weak transcription	HMEC	breast
17	chr12:11309200-11321800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:11309400-11321200	Weak transcription	Fetal Lung	lung
19	chr12:11310000-11321200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:11310200-11321800	Weak transcription	NH-A	brain
21	chr12:11310400-11321200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:11311800-11321800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:11312000-11321800	Weak transcription	Brain Anterior Caudate	brain
24	chr12:11312000-11323400	Weak transcription	Stomach Mucosa	stomach
25	chr12:11312200-11321800	Weak transcription	Right Ventricle	heart
26	chr12:11312400-11321200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr12:11312400-11321400	Weak transcription	Fetal Heart	heart
28	chr12:11312400-11321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:11312600-11321800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:11313000-11321400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:11313800-11321800	Weak transcription	NHDF-Ad	bronchial
32	chr12:11313800-11323200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:11313800-11323600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:11314200-11322000	Weak transcription	NHLF	lung
35	chr12:11314400-11321200	Weak transcription	Brain Substantia Nigra	brain
36	chr12:11315200-11322600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:11315400-11321400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:11315400-11321800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:11315600-11321200	Weak transcription	K562	blood
40	chr12:11316400-11321200	Strong transcription	A549	lung
41	chr12:11316400-11321600	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:11317000-11321200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:11317000-11321400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:11317600-11321200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:11317800-11322000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:11318200-11321200	Strong transcription	HUVEC	blood vessel
47	chr12:11318400-11321000	Genic enhancers	Dnd41	blood
48	chr12:11318600-11321200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:11318600-11322400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:11319000-11321200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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