Variant report

Variant	esv3431702
Chromosome Location	chr12:9910073-9910586
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9803491..9806822-chr12:9909601..9912697,3	K562	blood:
2	chr12:9909977..9913009-chr12:10364990..10367233,3	K562	blood:
3	chr12:9907740..9910735-chr12:10101487..10103775,2	K562	blood:
4	chr12:9908727..9910946-chr12:9954413..9956000,2	K562	blood:
5	chr12:9910429..9912074-chr12:9961751..9963956,2	K562	blood:
6	chr12:9514676..9517481-chr12:9908794..9910668,2	K562	blood:
7	chr12:9909065..9911051-chr12:10072172..10073790,2	K562	blood:
8	chr12:9908521..9910612-chr12:10055343..10056923,2	K562	blood:
9	chr12:9889267..9893240-chr12:9909352..9912451,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139112	chromatin interactions
ENSG00000256594	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 81 )

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	rs149690843	chr12:9910127-9910128	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs10844706	chr12:9910132-9910133	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145485827	chr12:9910140-9910141	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs148818583	chr12:9910147-9910148	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs142729530	chr12:9910162-9910163	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs4763879	chr12:9910164-9910165	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
7	rs77952003	chr12:9910217-9910218	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs574115251	chr12:9910226-9910227	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs546190547	chr12:9910238-9910239	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs10772119	chr12:9910279-9910280	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs7308610	chr12:9910289-9910290	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs541142211	chr12:9910403-9910404	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs10772120	chr12:9910411-9910412	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs193198350	chr12:9910428-9910429	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs59585962	chr12:9910438-9910439	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs61163981	chr12:9910449-9910450	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs185122162	chr12:9910465-9910466	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs12368445	chr12:9910489-9910490	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs368570261	chr12:9910490-9910491	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs546395323	chr12:9910559-9910560	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs566204306	chr12:9910567-9910568	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs538277664	chr12:9910574-9910575	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	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
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9893400-9910800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:9896400-9911000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:9903400-9917600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:9903600-9911000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:9903800-9911200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:9904000-9910200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:9904200-9910800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:9904200-9911200	Weak transcription	Small Intestine	intestine
9	chr12:9904400-9913200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:9904600-9913400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
11	chr12:9905600-9913400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:9905800-9910600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:9908200-9910200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:9908800-9910600	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:9909000-9914800	Active TSS	Thymus	Thymus
16	chr12:9909200-9910600	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr12:9909200-9911200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr12:9909400-9910600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:9909400-9911000	Active TSS	GM12878-XiMat	blood
20	chr12:9909600-9913400	Active TSS	Fetal Thymus	thymus
21	chr12:9909600-9914200	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr12:9909800-9910200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr12:9909800-9910200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr12:9909800-9910400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr12:9909800-9910600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr12:9909800-9910800	Enhancers	Primary B cells from peripheral blood	blood
27	chr12:9909800-9910800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells	blood
28	chr12:9909800-9910800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:9909800-9911400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
30	chr12:9909800-9911400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:9909800-9914000	Active TSS	K562	blood
32	chr12:9909800-9914400	Active TSS	Primary T cells fromperipheralblood	blood
33	chr12:9910000-9910200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr12:9910000-9910200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:9910000-9910400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:9910000-9910400	Transcr. at gene 5' and 3'	Dnd41	blood
37	chr12:9910200-9910400	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
38	chr12:9910200-9910400	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:9910200-9910600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr12:9910200-9910600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:9910200-9911200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr12:9910200-9914200	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr12:9910400-9910600	Flanking Active TSS	Dnd41	blood
44	chr12:9910400-9913600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:9910400-9914000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr12:9910400-9914400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:9910400-9914400	Active TSS	Primary T helper naive cells from peripheral blood	blood

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