Variant report

Variant	nsv1037515
Chromosome Location	chr12:4395342-4408673
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	chr12:4395917..4398503-chr12:4411541..4413819,2	K562	blood:
2	chr12:4394961..4395702-chr8:23386231..23387098,2	NB4	blood:
3	chr12:4407612..4409677-chr12:4410603..4412759,2	K562	blood:
4	chr12:4393589..4397417-chr12:4408802..4414196,5	K562	blood:
5	chr12:4356913..4358779-chr12:4400758..4402412,2	K562	blood:
6	chr12:4402239..4404395-chr12:4405990..4408960,2	K562	blood:
7	chr12:4402697..4405001-chr12:4413753..4415725,2	K562	blood:
8	chr12:4007431..4009689-chr12:4393873..4396492,2	K562	blood:
9	chr12:4402239..4404395-chr12:4405990..4408960,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256862	chromatin interactions
ENSG00000147454	chromatin interactions

Extended variants
information (count: 611 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149466446	chr12:4395347-4395348	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs577494151	chr12:4395357-4395358	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs368373707	chr12:4395369-4395370	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs187100388	chr12:4395371-4395372	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs553345844	chr12:4395415-4395416	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs190763683	chr12:4395416-4395417	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs143852934	chr12:4395422-4395423	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533527692	chr12:4395442-4395443	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs562414104	chr12:4395467-4395468	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs574450386	chr12:4395507-4395508	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs180804578	chr12:4395521-4395522	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs185250969	chr12:4395553-4395554	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs565602089	chr12:4395578-4395579	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs3217842	chr12:4395583-4395584	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs527988407	chr12:4395643-4395644	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs373748507	chr12:4395646-4395647	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs547852125	chr12:4395655-4395656	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs189722935	chr12:4395658-4395659	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs530015940	chr12:4395660-4395661	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs182390919	chr12:4395679-4395680	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs570037135	chr12:4395682-4395683	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs368759854	chr12:4395686-4395687	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs372399689	chr12:4395704-4395705	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537678566	chr12:4395816-4395817	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551161799	chr12:4395819-4395820	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186620598	chr12:4395860-4395861	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs3217843	chr12:4395865-4395866	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs3217844	chr12:4395885-4395886	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573602342	chr12:4395895-4395896	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs143218551	chr12:4395898-4395899	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375277035	chr12:4395936-4395937	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556255757	chr12:4395943-4395944	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576031017	chr12:4395983-4395984	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs146211374	chr12:4395985-4395986	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs367866739	chr12:4396039-4396040	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs577131674	chr12:4396074-4396075	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572629854	chr12:4396080-4396081	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs546072549	chr12:4396094-4396095	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541747849	chr12:4396110-4396111	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs3217845	chr12:4396123-4396124	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571301198	chr12:4396139-4396140	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs139356090	chr12:4396190-4396191	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73247761	chr12:4396252-4396253	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549885234	chr12:4396290-4396291	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs563852972	chr12:4396296-4396297	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs532463890	chr12:4396314-4396315	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs552214750	chr12:4396406-4396407	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571115390	chr12:4396421-4396422	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548321728	chr12:4396504-4396505	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs561835793	chr12:4396521-4396522	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4385400-4400000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
2	chr12:4385400-4404400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
3	chr12:4385600-4400600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:4385800-4398400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:4386000-4400000	Genic enhancers	Fetal Stomach	stomach
6	chr12:4386000-4404600	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr12:4386200-4403000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:4386200-4404200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:4386200-4404800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:4386600-4400000	Genic enhancers	Fetal Muscle Leg	muscle
11	chr12:4386600-4406800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:4386800-4396200	Strong transcription	Esophagus	oesophagus
13	chr12:4387000-4402600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
14	chr12:4387200-4400000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:4387200-4415200	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr12:4387800-4402400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:4387800-4415200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:4388200-4396800	Strong transcription	Fetal Thymus	thymus
19	chr12:4388200-4401000	Genic enhancers	Left Ventricle	heart
20	chr12:4388200-4411200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:4388200-4415200	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr12:4388200-4415200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:4389200-4400800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:4389400-4396400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:4389600-4403200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:4389800-4396600	Strong transcription	NHEK	skin
27	chr12:4390000-4396400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:4390000-4398400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
29	chr12:4390000-4399600	Genic enhancers	Fetal Intestine Small	intestine
30	chr12:4390000-4405800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
31	chr12:4390200-4399600	Genic enhancers	Fetal Intestine Large	intestine
32	chr12:4390200-4400000	Genic enhancers	Right Ventricle	heart
33	chr12:4390400-4396800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:4390400-4397000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:4390400-4397400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:4390400-4398200	Genic enhancers	Duodenum Mucosa	Duodenum
37	chr12:4390600-4395600	Genic enhancers	Colon Smooth Muscle	Colon
38	chr12:4390600-4396000	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr12:4390800-4395400	Strong transcription	Colonic Mucosa	Colon
40	chr12:4390800-4395600	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr12:4390800-4396000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:4390800-4396200	Strong transcription	Lung	lung
43	chr12:4390800-4398800	Genic enhancers	GM12878-XiMat	blood
44	chr12:4390800-4400200	Strong transcription	Fetal Lung	lung
45	chr12:4391000-4395600	Weak transcription	Right Atrium	heart
46	chr12:4391000-4396000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr12:4391000-4396200	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:4391000-4396600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:4391000-4396800	Weak transcription	HSMMtube	muscle
50	chr12:4391200-4400800	Strong transcription	Pancreas	Pancrea

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