Variant report

Variant	nsv976731
Chromosome Location	chr12:40642561-40646732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153939261..153941119-chr12:40643887..40646371,2	MCF-7	breast:
2	12:40642938-40650987..12:40793507-40812339	K562	blood:

Variant related genes	Relation type
ENSG00000205592	chromatin interactions
ENSG00000143578	chromatin interactions
ENSG00000143570	chromatin interactions

Extended variants
information (count: 183 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376346650	chr12:40642567-40642568	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs368195326	chr12:40642617-40642618	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs79166784	chr12:40642702-40642703	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs566563429	chr12:40642727-40642728	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs534217711	chr12:40642798-40642799	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559249983	chr12:40642869-40642870	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs148043877	chr12:40642892-40642893	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs546960867	chr12:40642957-40642958	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184324722	chr12:40642968-40642969	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557058846	chr12:40643070-40643071	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73106354	chr12:40643071-40643072	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs76338959	chr12:40643136-40643137	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189068815	chr12:40643180-40643181	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560850519	chr12:40643181-40643182	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181109770	chr12:40643207-40643208	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184063665	chr12:40643212-40643213	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565198001	chr12:40643240-40643241	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562198611	chr12:40643246-40643247	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs142241412	chr12:40643260-40643261	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs17490706	chr12:40643279-40643280	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371022326	chr12:40643361-40643362	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs732374	chr12:40643468-40643469	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs146189739	chr12:40643487-40643488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs548317638	chr12:40643519-40643520	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566749239	chr12:40643526-40643527	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377722273	chr12:40643582-40643583	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs202239269	chr12:40643585-40643586	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201502397	chr12:40643600-40643601	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534202678	chr12:40643607-40643608	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558944972	chr12:40643609-40643610	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs377312433	chr12:40643639-40643640	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200437744	chr12:40643645-40643646	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs17490713	chr12:40643656-40643657	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs201159244	chr12:40643657-40643658	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs538026154	chr12:40643658-40643659	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs199981482	chr12:40643660-40643661	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs199552001	chr12:40643678-40643679	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs281865059	chr12:40643682-40643683	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs57355477	chr12:40643683-40643684	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201334964	chr12:40643703-40643704	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs41286466	chr12:40643725-40643726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189032221	chr12:40643752-40643753	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371350870	chr12:40643767-40643768	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs72546316	chr12:40643779-40643780	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs113945129	chr12:40643782-40643783	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201179508	chr12:40643784-40643785	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs374219051	chr12:40643790-40643791	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs199861363	chr12:40643794-40643795	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs542733029	chr12:40643804-40643805	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563591428	chr12:40643818-40643819	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40619400-40644400	Weak transcription	Gastric	stomach
2	chr12:40619600-40661000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:40619600-40678400	Weak transcription	Right Ventricle	heart
4	chr12:40619800-40658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:40620400-40644200	Weak transcription	Brain Angular Gyrus	brain
6	chr12:40620800-40644200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:40620800-40648000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:40620800-40659200	Weak transcription	Brain Anterior Caudate	brain
9	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
10	chr12:40621000-40643800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:40621000-40659800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:40621000-40661200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:40622800-40661000	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
15	chr12:40630600-40643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:40630600-40669400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:40631200-40646600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:40632000-40655200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:40632000-40656000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:40633200-40643800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:40633400-40646600	Weak transcription	Ovary	ovary
23	chr12:40633400-40654200	Weak transcription	Aorta	Aorta
24	chr12:40635000-40647400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:40635000-40647400	Weak transcription	Lung	lung
26	chr12:40635200-40648200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:40636200-40648000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:40636200-40648200	Weak transcription	NHDF-Ad	bronchial
29	chr12:40636400-40643600	Weak transcription	Adipose Nuclei	Adipose
30	chr12:40637400-40647200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:40639600-40643600	Weak transcription	Liver	Liver
32	chr12:40640200-40680400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
34	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
35	chr12:40641200-40662800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:40641800-40642800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:40641800-40642800	Enhancers	A549	lung
38	chr12:40641800-40642800	Enhancers	NHEK	skin
39	chr12:40641800-40643000	Enhancers	GM12878-XiMat	blood
40	chr12:40641800-40643000	Enhancers	HMEC	breast
41	chr12:40641800-40643400	Genic enhancers	Primary B cells from cord blood	blood
42	chr12:40642000-40643000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:40642200-40682400	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:40642400-40642800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:40642400-40643000	Active TSS	Primary hematopoietic stem cells	blood
46	chr12:40642400-40643000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr12:40642400-40643400	Enhancers	Primary B cells from peripheral blood	blood
48	chr12:40642800-40645600	Weak transcription	A549	lung
49	chr12:40643000-40647400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:40643000-40659200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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