Variant report

Variant	nsv947217
Chromosome Location	chr1:197716247-197729068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:197721815-197722235	K562	blood:	n/a	n/a
2	CEBPB	chr1:197717211-197717213	K562	blood:	n/a	n/a
3	CEBPB	chr1:197717177-197717227	A549	lung:	n/a	n/a
4	CEBPB	chr1:197728741-197728932	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr1:197728746-197728933	K562	blood:	n/a	n/a
6	CTCF	chr1:197719017-197719071	GM20000	blood:	n/a	n/a
7	CTCF	chr1:197719070-197719111	Fibrobl	skin:	n/a	n/a
8	CTCF	chr1:197723581-197723663	MCF-7	breast:	n/a	n/a
9	FOS	chr1:197718218-197718418	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA1	chr1:197717825-197718398	PBDE	blood:	n/a	n/a
11	IRF1	chr1:197718679-197718693	K562	blood:	n/a	n/a
12	MYC	chr1:197723649-197723663	MCF-7	breast:	n/a	n/a
13	MYC	chr1:197723583-197723648	MCF-7	breast:	n/a	n/a
14	MYC	chr1:197723684-197723756	MCF-7	breast:	n/a	n/a
15	MYC	chr1:197723693-197723733	MCF-7	breast:	n/a	n/a
16	POLR2A	chr1:197723695-197723708	MCF-7	breast:	n/a	n/a
17	POLR2A	chr1:197719101-197719113	MCF-7	breast:	n/a	n/a
18	POLR2A	chr1:197721300-197721500	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr1:197723574-197723596	MCF-7	breast:	n/a	n/a
20	POLR2A	chr1:197723608-197723682	MCF-7	breast:	n/a	n/a
21	POLR2A	chr1:197719133-197719139	MCF-7	breast:	n/a	n/a
22	POLR2A	chr1:197718995-197719126	MCF-7	breast:	n/a	n/a
23	POLR2A	chr1:197719114-197719123	MCF-7	breast:	n/a	n/a
24	POLR2A	chr1:197723544-197723765	MCF-7	breast:	n/a	n/a
25	RFX5	chr1:197717553-197717748	K562	blood:	n/a	n/a
26	RFX5	chr1:197725894-197726051	K562	blood:	n/a	n/a
27	STAT3	chr1:197726097-197726476	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr1:197727711-197727911	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr1:197717597-197717599	MCF10A-Er-Src	breast:	n/a	n/a
30	TAL1	chr1:197718158-197718458	K562	blood:	n/a	n/a
31	YY1	chr1:197716494-197716687	K562	blood:	n/a	chr1:197716611-197716633
32	YY1	chr1:197716467-197716743	GM12878	blood:	n/a	chr1:197716611-197716633
33	YY1	chr1:197716400-197716738	GM12878	blood:	n/a	chr1:197716611-197716633
34	YY1	chr1:197716410-197716709	GM12891	blood:	n/a	chr1:197716611-197716633
35	ZNF263	chr1:197720991-197721271	HEK293-T-REx	kidney:	n/a	chr1:197721129-197721150 chr1:197721102-197721123 chr1:197721150-197721171
36	ZNF384	chr1:197723763-197723898	K562	blood:	n/a	n/a
37	ZNF384	chr1:197728834-197728907	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197724351..197725898-chr1:197743351..197745684,2	MCF-7	breast:
2	chr1:197724120..197727338-chr1:197727664..197731046,4	K562	blood:
3	chr1:197722193..197724114-chr1:197726600..197728818,2	K562	blood:
4	chr1:197723426..197725985-chr1:197744471..197746473,2	K562	blood:
5	chr1:197722193..197724114-chr1:197726600..197728818,2	K562	blood:
6	chr1:197715463..197718268-chr1:197744051..197746586,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf53-1	chr1:197726449-197726531	ENSG00000224901.1
2	lnc-ZBTB41-7	chr1:197715881-197716581	NONHSAT008634

No data

Variant related genes	Relation type
FAM204BP	TF binding region
ENSG00000224901	TF binding region
ENSG00000224901	chromatin interactions
ENSG00000213047	chromatin interactions

Extended variants
information (count: 444 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531457851	chr1:197716252-197716253	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs116486109	chr1:197716273-197716274	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs558461388	chr1:197716279-197716280	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs148802145	chr1:197716285-197716286	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs565123776	chr1:197716287-197716288	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs532298954	chr1:197716298-197716299	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs547718326	chr1:197716306-197716307	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs147776864	chr1:197716307-197716308	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs75628376	chr1:197716355-197716356	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs190543621	chr1:197716389-197716390	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs567396685	chr1:197716409-197716410	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs552111583	chr1:197716442-197716443	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs533625411	chr1:197716539-197716540	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs556469981	chr1:197716588-197716589	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs578157327	chr1:197716602-197716603	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs116213253	chr1:197716604-197716605	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs554464986	chr1:197716626-197716627	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs371928078	chr1:197716652-197716653	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs139523891	chr1:197716658-197716659	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs542618421	chr1:197716669-197716670	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs145135863	chr1:197716721-197716722	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs147614465	chr1:197716769-197716770	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565565427	chr1:197716781-197716782	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373516538	chr1:197716782-197716783	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs78289715	chr1:197716857-197716858	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs564932735	chr1:197716879-197716880	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs140851707	chr1:197716889-197716890	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540838389	chr1:197717021-197717022	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181736585	chr1:197717026-197717027	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs150163013	chr1:197717030-197717031	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548948108	chr1:197717037-197717038	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145656171	chr1:197717043-197717044	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs79194870	chr1:197717055-197717056	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs550201469	chr1:197717099-197717100	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553155849	chr1:197717113-197717114	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573060545	chr1:197717239-197717240	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534423695	chr1:197717246-197717247	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554430159	chr1:197717285-197717286	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs148909473	chr1:197717293-197717294	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs186211321	chr1:197717315-197717316	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs143220976	chr1:197717316-197717317	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs191016130	chr1:197717317-197717318	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs79279254	chr1:197717327-197717328	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558583371	chr1:197717346-197717347	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182118267	chr1:197717347-197717348	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377199366	chr1:197717396-197717397	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540803626	chr1:197717406-197717407	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187661056	chr1:197717411-197717412	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs36103259	chr1:197717418-197717419	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs559154339	chr1:197717496-197717497	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	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
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	20472715	CNVD
Multiple myeloma	16461302	CNVD
Leukoplakia	24403051	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197695800-197722000	Weak transcription	Fetal Lung	lung
2	chr1:197695800-197732800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:197695800-197742200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:197702800-197743800	Weak transcription	Esophagus	oesophagus
5	chr1:197703000-197718400	Weak transcription	Dnd41	blood
6	chr1:197706600-197729400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:197706800-197741800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:197708000-197716800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:197708000-197722600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:197708400-197719200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:197708400-197719200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:197708400-197721600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:197708400-197722800	Weak transcription	Lung	lung
14	chr1:197708400-197729800	Weak transcription	NHEK	skin
15	chr1:197708600-197719200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:197709600-197716800	Weak transcription	Psoas Muscle	Psoas
17	chr1:197709800-197718000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:197709800-197723000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:197710400-197724000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:197710600-197718800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:197710600-197722400	Weak transcription	Liver	Liver
22	chr1:197712000-197716800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:197712200-197716800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:197712200-197731000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:197712200-197741600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:197712200-197742000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:197712400-197717400	Weak transcription	Fetal Heart	heart
28	chr1:197713000-197732800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:197713000-197734000	Weak transcription	Fetal Thymus	thymus
30	chr1:197713200-197718400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:197713200-197720000	Weak transcription	Primary T cells from cord blood	blood
32	chr1:197713800-197733000	Weak transcription	Aorta	Aorta
33	chr1:197714200-197718400	Enhancers	K562	blood
34	chr1:197714400-197731600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:197714400-197743800	Weak transcription	Spleen	Spleen
36	chr1:197714600-197718200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:197714600-197718200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:197714600-197726400	Weak transcription	Right Ventricle	heart
39	chr1:197714600-197727400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:197714600-197729800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:197714600-197730000	Weak transcription	Primary B cells from cord blood	blood
42	chr1:197714600-197741600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:197714600-197742400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:197714600-197743600	Weak transcription	Ovary	ovary
45	chr1:197714800-197716800	Weak transcription	Fetal Intestine Small	intestine
46	chr1:197715000-197727200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr1:197715400-197719000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:197715400-197740000	Weak transcription	Left Ventricle	heart
49	chr1:197715400-197741800	Weak transcription	Gastric	stomach
50	chr1:197715600-197738400	Weak transcription	Pancreas	Pancrea

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