Variant report

Variant	nsv826964
Chromosome Location	chr1:228246802-228247654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228233555..228235122-chr1:228244296..228246819,2	K562	blood:
2	chr1:228242970..228244835-chr1:228244981..228247673,2	MCF-7	breast:
3	chr1:228245943..228247915-chr1:228251913..228254649,3	K562	blood:
4	chr1:228193180..228197909-chr1:228245616..228249822,4	MCF-7	breast:
5	chr1:228244560..228247525-chr1:228272017..228274884,2	MCF-7	breast:
6	chr1:228246811..228249127-chr1:228257869..228259965,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154342	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540131703	chr1:228246808-228246809	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148923278	chr1:228246816-228246817	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs367993459	chr1:228246848-228246849	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561601259	chr1:228246881-228246882	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146574482	chr1:228246959-228246960	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145403278	chr1:228247002-228247003	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79049155	chr1:228247043-228247044	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs199932668	chr1:228247077-228247078	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368162569	chr1:228247118-228247119	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551126860	chr1:228247139-228247140	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375339690	chr1:228247140-228247141	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs80286438	chr1:228247192-228247193	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148630829	chr1:228247196-228247197	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568730418	chr1:228247211-228247212	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535688688	chr1:228247232-228247233	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370330672	chr1:228247256-228247257	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557501637	chr1:228247274-228247275	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575678100	chr1:228247276-228247277	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539912321	chr1:228247278-228247279	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs752107	chr1:228247351-228247352	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs111458816	chr1:228247387-228247388	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs79401323	chr1:228247396-228247397	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374096538	chr1:228247426-228247427	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561661836	chr1:228247427-228247428	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573850340	chr1:228247437-228247438	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183645114	chr1:228247440-228247441	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562684180	chr1:228247446-228247447	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113606278	chr1:228247454-228247455	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368115699	chr1:228247455-228247456	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs752108	chr1:228247483-228247484	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551501618	chr1:228247542-228247543	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560244255	chr1:228247558-228247559	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs527295568	chr1:228247567-228247568	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs548966168	chr1:228247571-228247572	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs377367177	chr1:228247606-228247607	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs752109	chr1:228247627-228247628	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs368193456	chr1:228247641-228247642	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228246000-228247200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:228246200-228248800	ZNF genes & repeats	Spleen	Spleen
3	chr1:228246400-228247000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:228246400-228247600	Bivalent Enhancer	Placenta	Placenta
5	chr1:228246400-228248200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:228246600-228247000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
7	chr1:228246600-228247000	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
8	chr1:228246600-228247000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:228246600-228247000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
10	chr1:228246600-228247200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr1:228246600-228247200	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
12	chr1:228246600-228247200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
13	chr1:228246600-228247200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:228246600-228247200	ZNF genes & repeats	Lung	lung
15	chr1:228246600-228247200	Flanking Active TSS	Pancreas	Pancrea
16	chr1:228246600-228247400	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr1:228246600-228247400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:228246600-228247600	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr1:228246600-228248200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
20	chr1:228246600-228248200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
21	chr1:228246600-228248200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:228246600-228248400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:228246600-228249000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:228246600-228249000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:228246600-228249000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr1:228246600-228249000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr1:228246800-228247000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:228246800-228247000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
29	chr1:228246800-228247000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:228246800-228247000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:228246800-228247000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:228246800-228247000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr1:228246800-228247000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
34	chr1:228246800-228247000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
35	chr1:228246800-228247000	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
36	chr1:228246800-228247000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
37	chr1:228246800-228247000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
38	chr1:228246800-228247000	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
39	chr1:228246800-228247000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
40	chr1:228246800-228247000	Bivalent Enhancer	Right Ventricle	heart
41	chr1:228246800-228247000	Flanking Bivalent TSS/Enh	Small Intestine	intestine
42	chr1:228246800-228247000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
43	chr1:228246800-228247200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr1:228246800-228247200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:228246800-228247200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr1:228246800-228247200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
47	chr1:228246800-228247200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:228246800-228247200	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr1:228246800-228247200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr1:228246800-228247200	Flanking Active TSS	Gastric	stomach

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