Variant report

Variant	esv3379296
Chromosome Location	chr12:46174709-46175430
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46172151..46174760-chr12:46183575..46186496,2	K562	blood:
2	chr12:46173636..46175276-chr12:46381483..46383526,2	K562	blood:
3	chr12:46174845..46176940-chr12:46178634..46181295,2	MCF-7	breast:
4	chr12:46123687..46125328-chr12:46172888..46175299,2	K562	blood:
5	chr12:46118815..46121189-chr12:46174035..46176662,2	K562	blood:

Variant related genes	Relation type
ENSG00000189079	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148608962	chr12:46174756-46174757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552947963	chr12:46174760-46174761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs4482092	chr12:46174866-46174867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184647885	chr12:46174897-46174898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372072698	chr12:46174904-46174905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs147424084	chr12:46174943-46174944	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375178430	chr12:46174945-46174946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574973690	chr12:46174957-46174958	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs139783830	chr12:46174978-46174979	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542292710	chr12:46175021-46175022	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560955283	chr12:46175035-46175036	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7138380	chr12:46175039-46175040	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541718950	chr12:46175075-46175076	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542185845	chr12:46175105-46175106	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114283184	chr12:46175117-46175118	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs199892058	chr12:46175155-46175156	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201228380	chr12:46175167-46175168	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551980690	chr12:46175204-46175205	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs560565694	chr12:46175208-46175209	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570196515	chr12:46175251-46175252	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189410595	chr12:46175291-46175292	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531463114	chr12:46175331-46175332	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46132000-46205200	Weak transcription	HSMM	muscle
2	chr12:46149600-46215400	Weak transcription	Fetal Kidney	kidney
3	chr12:46157400-46199600	Weak transcription	HepG2	liver
4	chr12:46162600-46175200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:46163000-46175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:46164400-46187800	Weak transcription	Fetal Thymus	thymus
7	chr12:46164400-46193600	Weak transcription	Fetal Stomach	stomach
8	chr12:46164600-46187800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:46164600-46187800	Weak transcription	GM12878-XiMat	blood
10	chr12:46164600-46193400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:46164600-46205200	Weak transcription	Dnd41	blood
12	chr12:46164600-46230000	Weak transcription	Thymus	Thymus
13	chr12:46164800-46193200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:46165200-46187800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr12:46165400-46176800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:46166200-46181200	Weak transcription	Hela-S3	cervix
17	chr12:46166800-46199800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:46167000-46175000	Weak transcription	Primary B cells from cord blood	blood
19	chr12:46167600-46205200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:46168600-46174800	Weak transcription	Stomach Mucosa	stomach
21	chr12:46168600-46193400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:46168800-46181000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:46168800-46193600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:46169000-46177000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:46169000-46178400	Weak transcription	Gastric	stomach
26	chr12:46169000-46181800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:46169000-46182600	Weak transcription	NHDF-Ad	bronchial
28	chr12:46169000-46187800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:46169000-46197600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:46169000-46202400	Weak transcription	Aorta	Aorta
31	chr12:46169000-46202400	Weak transcription	Left Ventricle	heart
32	chr12:46169000-46202400	Weak transcription	Psoas Muscle	Psoas
33	chr12:46169000-46205200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:46169000-46208000	Weak transcription	Brain Angular Gyrus	brain
35	chr12:46169000-46215400	Weak transcription	Fetal Lung	lung
36	chr12:46169200-46182800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:46169200-46190000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:46170000-46175000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:46170000-46177200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:46170000-46184200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:46170200-46175200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:46170200-46175200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:46170200-46176000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:46170200-46182400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:46170200-46183000	Weak transcription	Brain Substantia Nigra	brain
46	chr12:46170200-46193600	Weak transcription	Fetal Intestine Small	intestine
47	chr12:46170400-46182800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:46174000-46182800	Weak transcription	A549	lung
49	chr12:46174200-46205000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:46174600-46175000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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