Variant report

Variant	nsv826920
Chromosome Location	chr1:228106910-228116488
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228111067..228112932-chr1:228117820..228119468,2	MCF-7	breast:
2	chr1:227912717..227914505-chr1:228107009..228109578,2	K562	blood:
3	chr1:228099351..228102310-chr1:228112933..228115119,2	K562	blood:
4	chr1:228102507..228105005-chr1:228106646..228109537,2	MCF-7	breast:
5	chr1:228104214..228105732-chr1:228108237..228110826,2	MCF-7	breast:
6	chr1:227935783..227938114-chr1:228110328..228112224,2	K562	blood:
7	chr1:228106073..228108518-chr1:228109587..228111859,2	K562	blood:
8	chr1:228106073..228108518-chr1:228109587..228111859,2	K562	blood:
9	chr1:228094983..228097029-chr1:228105421..228107504,2	K562	blood:
10	chr1:228110564..228113344-chr1:228642639..228644578,2	K562	blood:
11	chr1:227652761..227655179-chr1:228106807..228109006,2	MCF-7	breast:
12	chr1:228102020..228104817-chr1:228104964..228106972,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143740	chromatin interactions

Extended variants
information (count: 493 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12725747	chr1:228106921-228106922	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs111750097	chr1:228106954-228106955	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113647824	chr1:228106963-228106964	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574068400	chr1:228107012-228107013	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4266877	chr1:228107031-228107032	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs556115496	chr1:228107054-228107055	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577584864	chr1:228107056-228107057	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113870745	chr1:228107076-228107077	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189276991	chr1:228107079-228107080	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76821594	chr1:228107082-228107083	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536094227	chr1:228107099-228107100	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192273536	chr1:228107121-228107122	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12726048	chr1:228107136-228107137	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs4233231	chr1:228107139-228107140	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543471420	chr1:228107162-228107163	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112687370	chr1:228107186-228107187	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145833828	chr1:228107188-228107189	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78826604	chr1:228107189-228107190	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184253642	chr1:228107190-228107191	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527917609	chr1:228107207-228107208	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571551005	chr1:228107214-228107215	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567680924	chr1:228107250-228107251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113179496	chr1:228107261-228107262	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs3820623	chr1:228107262-228107263	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs3820622	chr1:228107281-228107282	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571317149	chr1:228107302-228107303	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538599795	chr1:228107330-228107331	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553828229	chr1:228107332-228107333	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572295826	chr1:228107364-228107365	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs3820621	chr1:228107365-228107366	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537182777	chr1:228107388-228107389	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374189657	chr1:228107389-228107390	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200217351	chr1:228107391-228107392	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112281253	chr1:228107392-228107393	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12022403	chr1:228107393-228107394	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199873259	chr1:228107403-228107404	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201287584	chr1:228107421-228107422	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113864842	chr1:228107422-228107423	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547874023	chr1:228107423-228107424	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs59594965	chr1:228107424-228107425	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12040881	chr1:228107430-228107431	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564935782	chr1:228107456-228107457	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188671279	chr1:228107475-228107476	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541021217	chr1:228107486-228107487	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6143657	chr1:228107488-228107489	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71950402	chr1:228107490-228107491	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181161385	chr1:228107508-228107509	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563097782	chr1:228107510-228107511	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200648344	chr1:228107511-228107512	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567533090	chr1:228107533-228107534	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228075600-228109200	Weak transcription	Right Atrium	heart
2	chr1:228098600-228108600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:228098600-228117600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:228098800-228122800	Weak transcription	HSMMtube	muscle
5	chr1:228099200-228108400	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:228099400-228108800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:228099400-228122400	Weak transcription	HSMM	muscle
8	chr1:228100600-228108200	Enhancers	Fetal Muscle Leg	muscle
9	chr1:228101200-228110400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:228101400-228111000	Weak transcription	Fetal Brain Female	brain
11	chr1:228102400-228108600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:228102600-228108400	Enhancers	Fetal Muscle Trunk	muscle
13	chr1:228103000-228107400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:228103400-228107400	Weak transcription	Pancreas	Pancrea
15	chr1:228103800-228107400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:228103800-228113800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:228103800-228117000	Weak transcription	Fetal Intestine Large	intestine
18	chr1:228104000-228107000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:228104000-228107200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:228104200-228107400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:228104200-228111000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:228104400-228108600	Weak transcription	Lung	lung
23	chr1:228104600-228107400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:228104600-228108400	Weak transcription	Gastric	stomach
25	chr1:228104600-228110400	Weak transcription	Fetal Lung	lung
26	chr1:228104800-228107400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:228104800-228108400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:228104800-228108600	Weak transcription	Esophagus	oesophagus
29	chr1:228105000-228107200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:228105200-228108400	Weak transcription	Spleen	Spleen
31	chr1:228105200-228108800	Weak transcription	HMEC	breast
32	chr1:228105200-228112400	Weak transcription	Brain Germinal Matrix	brain
33	chr1:228105200-228112800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:228105400-228107000	Weak transcription	Brain Anterior Caudate	brain
35	chr1:228105400-228107000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:228105400-228107200	Weak transcription	Fetal Heart	heart
37	chr1:228105400-228107400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:228105400-228108600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:228105600-228107000	Weak transcription	Brain Substantia Nigra	brain
40	chr1:228105600-228108400	Weak transcription	Ovary	ovary
41	chr1:228105600-228108600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:228105600-228110200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:228105800-228107000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:228105800-228107200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:228105800-228107400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:228105800-228108000	Genic enhancers	Fetal Stomach	stomach
47	chr1:228105800-228108200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:228106200-228108400	Weak transcription	Right Ventricle	heart
49	chr1:228106400-228107200	Weak transcription	Brain Angular Gyrus	brain
50	chr1:228106600-228121400	Weak transcription	Psoas Muscle	Psoas

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