Variant report

Variant	nsv945350
Chromosome Location	chr1:228448721-228451969
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228445781..228449688-chr1:228450143..228453415,4	K562	blood:
2	chr1:228413308..228415360-chr1:228448839..228451270,2	K562	blood:
3	chr1:228439094..228441164-chr1:228449767..228452158,2	MCF-7	breast:
4	chr1:228445781..228449688-chr1:228450143..228453415,4	K562	blood:
5	chr1:228449283..228451811-chr1:228461378..228463702,3	K562	blood:
6	chr1:228446358..228449108-chr1:228455290..228457930,3	K562	blood:
7	chr1:228418825..228420344-chr1:228451196..228452824,2	K562	blood:
8	chr1:228425239..228427596-chr1:228447801..228449454,2	K562	blood:
9	chr1:228447727..228450051-chr1:228461842..228464291,2	MCF-7	breast:
10	chr1:228418003..228421398-chr1:228446860..228450247,3	K562	blood:
11	chr1:228451031..228452706-chr1:228468801..228471254,2	K562	blood:
12	chr1:228451473..228454587-chr1:228643245..228646979,3	K562	blood:
13	chr1:228449665..228453244-chr1:228453932..228455890,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269934	chromatin interactions
ENSG00000269890	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000196890	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558018501	chr1:228448740-228448741	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs188568523	chr1:228448749-228448750	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs181202556	chr1:228448785-228448786	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs139005813	chr1:228448824-228448825	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs574144266	chr1:228448890-228448891	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377014942	chr1:228448938-228448939	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs543120439	chr1:228448973-228448974	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs562909430	chr1:228448974-228448975	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs563113061	chr1:228448976-228448977	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs10916296	chr1:228449000-228449001	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551719921	chr1:228449020-228449021	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs531909130	chr1:228449021-228449022	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs150876674	chr1:228449030-228449031	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551929335	chr1:228449034-228449035	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs566140729	chr1:228449051-228449052	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs287604	chr1:228449085-228449086	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549040914	chr1:228449144-228449145	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs568894460	chr1:228449236-228449237	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs538036046	chr1:228449255-228449256	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs527692384	chr1:228449283-228449284	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs116091046	chr1:228449300-228449301	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs116391718	chr1:228449303-228449304	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs376205733	chr1:228449318-228449319	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs547513289	chr1:228449319-228449320	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs547281977	chr1:228449397-228449398	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs534092160	chr1:228449445-228449446	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs554176923	chr1:228449459-228449460	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs539126497	chr1:228449501-228449502	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368629068	chr1:228449505-228449506	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs566640	chr1:228449573-228449574	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs139338533	chr1:228449588-228449589	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs116022057	chr1:228449613-228449614	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375069413	chr1:228449614-228449615	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs149272777	chr1:228449621-228449622	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs556024056	chr1:228449661-228449662	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs545579301	chr1:228449671-228449672	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs12059810	chr1:228449677-228449678	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs527938445	chr1:228449678-228449679	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs541347932	chr1:228449882-228449883	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs115739026	chr1:228449906-228449907	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs375413700	chr1:228449977-228449978	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs7520028	chr1:228449985-228449986	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs114015197	chr1:228450045-228450046	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs7534375	chr1:228450191-228450192	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs114677356	chr1:228450199-228450200	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7520220	chr1:228450216-228450217	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568933383	chr1:228450339-228450340	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531311785	chr1:228450364-228450365	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551564757	chr1:228450379-228450380	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571485423	chr1:228450380-228450381	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228433400-228449400	Weak transcription	Brain Anterior Caudate	brain
2	chr1:228434600-228455400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:228434800-228460000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:228434800-228462400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:228435200-228449400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:228435200-228449600	Strong transcription	Primary T cells from cord blood	blood
7	chr1:228435200-228462800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:228435600-228462600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:228435800-228450200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:228437000-228455600	Weak transcription	Hela-S3	cervix
11	chr1:228438400-228455600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:228439200-228449400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:228439800-228448800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:228441200-228450400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:228443000-228449200	Strong transcription	Right Ventricle	heart
16	chr1:228443000-228449400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:228443200-228454800	Strong transcription	Left Ventricle	heart
18	chr1:228443400-228449200	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr1:228443400-228449400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:228443400-228449800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:228443600-228462800	Weak transcription	Fetal Kidney	kidney
22	chr1:228443800-228449000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:228444000-228461400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:228444200-228461600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:228444400-228450000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr1:228444600-228450000	ZNF genes & repeats	Dnd41	blood
27	chr1:228444800-228454200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:228444800-228462800	Weak transcription	Fetal Thymus	thymus
29	chr1:228445000-228455800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:228445000-228456400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:228445000-228462200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:228445000-228462400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:228445000-228462800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:228445000-228463200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:228445600-228449000	ZNF genes & repeats	Fetal Muscle Leg	muscle
36	chr1:228446400-228449800	Strong transcription	Fetal Heart	heart
37	chr1:228447000-228449000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:228447000-228449200	ZNF genes & repeats	Thymus	Thymus
39	chr1:228447200-228449800	Strong transcription	Fetal Lung	lung
40	chr1:228447400-228451400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:228447400-228455800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:228447400-228455800	Weak transcription	Brain Germinal Matrix	brain
43	chr1:228447600-228450400	Weak transcription	Right Atrium	heart
44	chr1:228447600-228451600	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:228447600-228451600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:228447600-228455800	Weak transcription	Lung	lung
47	chr1:228447600-228455800	Weak transcription	Spleen	Spleen
48	chr1:228447600-228463000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:228447800-228454600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:228447800-228455600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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