Variant report

Variant	nsv947467
Chromosome Location	chr1:212954839-212957948
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212781936..212785514-chr1:212953111..212956420,3	K562	blood:
2	chr1:212947843..212950048-chr1:212956600..212958809,2	K562	blood:
3	chr1:212838136..212839056-chr1:212955502..212956475,5	K562	blood:
4	chr1:212872567..212873252-chr1:212955508..212956261,2	K562	blood:
5	chr1:212872473..212873111-chr1:212955524..212956225,2	MCF-7	breast:
6	chr1:212953290..212958548-chr1:212960806..212967767,9	K562	blood:
7	chr1:212880638..212882671-chr1:212954143..212956179,2	K562	blood:
8	chr1:212923248..212923805-chr1:212955689..212956237,2	MCF-7	breast:
9	chr1:212630980..212631781-chr1:212955510..212956087,2	K562	blood:
10	chr1:212838273..212839229-chr1:212955501..212956004,2	MCF-7	breast:
11	chr1:212782588..212784090-chr1:212954271..212956784,2	K562	blood:
12	chr1:212956561..212959234-chr1:212973278..212975035,2	K562	blood:
13	chr1:212955485..212957431-chr1:212958159..212961189,3	K562	blood:
14	chr1:212838302..212839068-chr1:212955910..212956453,2	MCF-7	breast:
15	chr1:212955493..212956202-chr11:62160505..62161088,2	K562	blood:
16	chr1:212650238..212651131-chr1:212955932..212956435,2	K562	blood:
17	chr1:212956577..212958246-chr1:212964854..212966813,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255126	chromatin interactions
ENSG00000203705	chromatin interactions
ENSG00000162772	chromatin interactions
ENSG00000237980	chromatin interactions
ENSG00000117697	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539038864	chr1:212954862-212954863	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs72509516	chr1:212954879-212954880	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs35785389	chr1:212954880-212954881	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs79315191	chr1:212954881-212954882	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs139777035	chr1:212954886-212954887	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs552667652	chr1:212954901-212954902	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs192739556	chr1:212954931-212954932	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs111403864	chr1:212954939-212954940	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs541343161	chr1:212955009-212955010	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs141631671	chr1:212955090-212955091	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs184130443	chr1:212955093-212955094	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs566192064	chr1:212955119-212955120	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs74138700	chr1:212955203-212955204	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11120025	chr1:212955231-212955232	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs144364612	chr1:212955382-212955383	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs376384356	chr1:212955410-212955411	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs575605076	chr1:212955411-212955412	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs12728842	chr1:212955414-212955415	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs368838221	chr1:212955416-212955417	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs200243335	chr1:212955430-212955431	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs11120026	chr1:212955454-212955455	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs564331462	chr1:212955482-212955483	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs575889898	chr1:212955507-212955508	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs554464546	chr1:212955508-212955509	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs544874630	chr1:212955542-212955543	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs565896553	chr1:212955639-212955640	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs539452524	chr1:212955640-212955641	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs557779798	chr1:212955648-212955649	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs374268186	chr1:212955774-212955775	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs199761926	chr1:212955776-212955777	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs368227584	chr1:212955788-212955789	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs576120921	chr1:212955836-212955837	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs111873815	chr1:212955910-212955911	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs3738803	chr1:212955919-212955920	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs146612786	chr1:212955969-212955970	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs3738802	chr1:212955972-212955973	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs540227660	chr1:212956028-212956029	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs187188743	chr1:212956066-212956067	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs3738801	chr1:212956130-212956131	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs368186980	chr1:212956143-212956144	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs542091048	chr1:212956188-212956189	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs545020149	chr1:212956215-212956216	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs563313312	chr1:212956216-212956217	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs530606127	chr1:212956239-212956240	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs549121472	chr1:212956264-212956265	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs141269983	chr1:212956346-212956347	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs73083731	chr1:212956369-212956370	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs7538755	chr1:212956412-212956413	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs566357350	chr1:212956414-212956415	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs550827686	chr1:212956465-212956466	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212895400-212964600	Weak transcription	Pancreas	Pancrea
2	chr1:212895600-212964600	Weak transcription	Gastric	stomach
3	chr1:212923600-212956200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:212923600-212963800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:212923600-212964400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:212923800-212957600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:212923800-212964200	Weak transcription	HMEC	breast
8	chr1:212926600-212963400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:212927400-212963400	Weak transcription	Small Intestine	intestine
10	chr1:212927400-212964200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:212928400-212956200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:212936600-212956000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:212936600-212956200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:212936600-212956200	Weak transcription	Thymus	Thymus
15	chr1:212936600-212959800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:212936600-212960200	Weak transcription	Lung	lung
17	chr1:212936600-212964400	Weak transcription	Esophagus	oesophagus
18	chr1:212939400-212956200	Weak transcription	Fetal Stomach	stomach
19	chr1:212941200-212964200	Weak transcription	Right Ventricle	heart
20	chr1:212942400-212964200	Weak transcription	Aorta	Aorta
21	chr1:212942600-212964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:212942800-212956400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:212942800-212964200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:212943200-212956200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:212943200-212956200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:212943200-212964200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:212943600-212957800	Weak transcription	Brain Anterior Caudate	brain
28	chr1:212943800-212955400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:212944000-212956800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:212944000-212958000	Weak transcription	Brain Substantia Nigra	brain
31	chr1:212944200-212956000	Weak transcription	Primary T cells from cord blood	blood
32	chr1:212944200-212956200	Weak transcription	Psoas Muscle	Psoas
33	chr1:212944200-212956800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:212944200-212964400	Weak transcription	Fetal Heart	heart
35	chr1:212944400-212955200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:212944400-212956200	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:212945600-212956000	Weak transcription	NHLF	lung
38	chr1:212945800-212955800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:212945800-212959800	Weak transcription	Ovary	ovary
40	chr1:212947800-212956000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:212948200-212956000	Weak transcription	NHDF-Ad	bronchial
42	chr1:212948400-212956000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:212948400-212960000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:212949000-212955600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr1:212950400-212964200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:212950800-212959800	Weak transcription	Fetal Intestine Small	intestine
47	chr1:212951600-212956200	Weak transcription	HepG2	liver
48	chr1:212951800-212964400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:212952400-212963000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:212952600-212963600	Weak transcription	Colonic Mucosa	Colon

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