Variant report

Variant	esv3489230
Chromosome Location	chr12:75900683-75902058
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	CEBPB	chr12:75901958-75902296	IMR90	lung:	n/a	n/a
2	CEBPB	chr12:75901975-75902281	HepG2	liver:	n/a	n/a
3	CEBPB	chr12:75901957-75902298	K562	blood:	n/a	n/a
4	CEBPB	chr12:75901940-75902351	A549	lung:	n/a	n/a
5	CEBPB	chr12:75901957-75902283	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr12:75901996-75902290	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr12:75901947-75902316	A549	lung:	n/a	n/a
8	CEBPB	chr12:75901938-75902344	MCF-7	breast:	n/a	n/a
9	JUN	chr12:75900840-75901148	HepG2	liver:	n/a	chr12:75900980-75900993
10	JUND	chr12:75900836-75901172	HepG2	liver:	n/a	chr12:75901143-75901152
11	MAFF	chr12:75901655-75901771	K562	blood:	n/a	n/a
12	MAFK	chr12:75901601-75901704	K562	blood:	n/a	n/a
13	POLR2A	chr12:75900331-75900840	U87	brain:	n/a	n/a
14	POLR2A	chr12:75898028-75900893	U87	brain:	n/a	n/a
15	POLR2A	chr12:75900775-75900944	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr12:75901595-75901800	GM12891	blood:	n/a	n/a
17	POLR2A	chr12:75900655-75900702	ProgFib	skin:	n/a	n/a
18	POLR2A	chr12:75900707-75900722	ProgFib	skin:	n/a	n/a
19	POLR2A	chr12:75900386-75900740	GM12892	blood:	n/a	n/a
20	POLR2A	chr12:75901468-75901583	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr12:75902002-75902265	MCF10A-Er-Src	breast:	n/a	n/a
22	TBL1XR1	chr12:75901638-75901675	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:75872783..75874994-chr12:75900196..75902850,2	K562	blood:
2	chr12:75901516..75903864-chr12:75903925..75905942,3	MCF-7	breast:
3	chr12:75899037..75901199-chr12:75907955..75910406,2	K562	blood:

Variant related genes	Relation type
KRR1	TF binding region
ENSG00000111615	chromatin interactions
ENSG00000139278	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372960188	chr12:75900700-75900701	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs2704766	chr12:75900702-75900703	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs370943327	chr12:75900722-75900723	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs114386670	chr12:75900731-75900732	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs201881252	chr12:75900734-75900735	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs530002466	chr12:75900748-75900749	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546660508	chr12:75900789-75900790	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs560091631	chr12:75900829-75900830	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs375364151	chr12:75900838-75900839	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376635916	chr12:75900912-75900913	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs187012290	chr12:75900914-75900915	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs566378804	chr12:75900917-75900918	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs74108833	chr12:75900921-75900922	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs207473109	chr12:75900942-75900943	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs528660904	chr12:75901028-75901029	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs545579291	chr12:75901032-75901033	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs538404957	chr12:75901063-75901064	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs565374047	chr12:75901073-75901074	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs115305214	chr12:75901076-75901077	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs74108834	chr12:75901087-75901088	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs145106577	chr12:75901110-75901111	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs74108836	chr12:75901127-75901128	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577130735	chr12:75901174-75901175	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs539567132	chr12:75901261-75901262	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556594862	chr12:75901284-75901285	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12815116	chr12:75901300-75901301	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs371486142	chr12:75901344-75901345	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544454613	chr12:75901352-75901353	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561055442	chr12:75901354-75901355	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs138928072	chr12:75901525-75901526	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs114579250	chr12:75901556-75901557	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs559901320	chr12:75901560-75901561	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs532098084	chr12:75901589-75901590	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs539391661	chr12:75901607-75901608	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs73358066	chr12:75901631-75901632	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs112837978	chr12:75901648-75901649	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs531785748	chr12:75901744-75901745	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs534211862	chr12:75901749-75901750	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs546901079	chr12:75901755-75901756	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs531288264	chr12:75901761-75901762	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs548413258	chr12:75901764-75901765	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs568310040	chr12:75901766-75901767	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs534222685	chr12:75901767-75901768	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs548037894	chr12:75901769-75901770	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs561262376	chr12:75901792-75901793	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs570782227	chr12:75901793-75901794	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs111611825	chr12:75901806-75901807	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs539851388	chr12:75901809-75901810	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs372370566	chr12:75901832-75901833	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs142251019	chr12:75901863-75901864	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Wilms tumour	21544195	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
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
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75875600-75903400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:75875800-75903000	Weak transcription	Small Intestine	intestine
3	chr12:75875800-75903600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:75876200-75903400	Weak transcription	Fetal Stomach	stomach
5	chr12:75879800-75902000	Strong transcription	Primary B cells from cord blood	blood
6	chr12:75880600-75903800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:75882600-75903200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:75883200-75901800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:75883400-75902600	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr12:75883600-75901800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:75883600-75902200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr12:75883800-75904800	Weak transcription	Esophagus	oesophagus
13	chr12:75884200-75901200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:75884200-75901200	Strong transcription	NH-A	brain
15	chr12:75884200-75902200	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:75884400-75901600	Strong transcription	NHDF-Ad	bronchial
17	chr12:75885000-75902200	Strong transcription	HUVEC	blood vessel
18	chr12:75885000-75902400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:75886200-75903200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:75886600-75901400	Strong transcription	HMEC	breast
21	chr12:75886600-75903000	Strong transcription	Fetal Thymus	thymus
22	chr12:75886800-75902000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:75887000-75902200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:75887200-75901000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:75887200-75902200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:75887400-75901800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:75887400-75903000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:75887600-75901200	Strong transcription	Dnd41	blood
29	chr12:75887600-75901800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:75887600-75902000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr12:75887600-75902000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr12:75887600-75902400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:75887800-75902600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:75888000-75903000	Weak transcription	Pancreas	Pancrea
35	chr12:75888600-75900800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:75888600-75901800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:75888600-75903200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:75888800-75902200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:75888800-75903800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:75888800-75904200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:75889000-75901000	Strong transcription	Adipose Nuclei	Adipose
42	chr12:75889000-75901600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:75889000-75901800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr12:75889000-75901800	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:75889200-75901400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr12:75890200-75901800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:75890200-75902000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:75890600-75900800	Strong transcription	Placenta	Placenta
49	chr12:75890600-75901800	Strong transcription	NHEK	skin
50	chr12:75890600-75903200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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