Variant report

Variant	nsv964617
Chromosome Location	chr22:29795368-29819195
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr22:29797555-29797746	K562	blood:	n/a	n/a
2	BATF	chr22:29808804-29809035	GM12878	blood:	n/a	n/a
3	BATF	chr22:29810856-29811337	GM12878	blood:	n/a	n/a
4	BCL11A	chr22:29801979-29802220	GM12878	blood:	n/a	n/a
5	BHLHE40	chr22:29810866-29811343	GM12878	blood:	n/a	n/a
6	BHLHE40	chr22:29816277-29816626	K562	blood:	n/a	n/a
7	BHLHE40	chr22:29807666-29807691	GM12878	blood:	n/a	n/a
8	BHLHE40	chr22:29816228-29816602	GM12878	blood:	n/a	n/a
9	CEBPB	chr22:29805051-29805224	K562	blood:	n/a	chr22:29805152-29805163
10	CEBPB	chr22:29804972-29805323	K562	blood:	n/a	chr22:29805152-29805163
11	CEBPB	chr22:29805000-29805273	HepG2	liver:	n/a	chr22:29805152-29805163
12	CEBPB	chr22:29805054-29805264	MCF-7	breast:	n/a	chr22:29805152-29805163
13	CEBPB	chr22:29805089-29805202	IMR90	lung:	n/a	chr22:29805152-29805163
14	CEBPB	chr22:29804956-29805312	K562	blood:	n/a	chr22:29805152-29805163
15	CREB1	chr22:29811321-29811512	A549	lung:	n/a	n/a
16	CTCF	chr22:29808960-29809110	GM12873	blood:	n/a	n/a
17	CTCF	chr22:29808880-29809030	GM06990	blood:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
18	CTCF	chr22:29808850-29809136	H1-hESC	embryonic stem cell:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
19	CTCF	chr22:29808750-29809057	GM12891	blood:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
20	CTCF	chr22:29808840-29809130	GM12872	blood:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
21	CTCF	chr22:29808580-29808730	GM12873	blood:	n/a	n/a
22	CTCF	chr22:29808880-29809030	HepG2	liver:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
23	CTCF	chr22:29817519-29817703	K562	blood:	n/a	n/a
24	CTCF	chr22:29808780-29808930	NB4	blood:	n/a	n/a
25	CTCF	chr22:29808781-29809044	Fibrobl	skin:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
26	CTCF	chr22:29809000-29809150	GM12867	blood:	n/a	chr22:29809139-29809147
27	CTCF	chr22:29808822-29809058	GM13976	blood:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
28	CTCF	chr22:29808900-29809050	GM12872	blood:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
29	CTCF	chr22:29808835-29809087	Spleen_OC	spleen:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
30	CTCF	chr22:29808780-29808930	GM12870	blood:	n/a	n/a
31	CTCF	chr22:29808580-29808730	K562	blood:	n/a	n/a
32	CTCF	chr22:29808840-29808990	HVMF	connective:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
33	CTCF	chr22:29808749-29809111	K562	blood:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
34	CTCF	chr22:29808900-29809050	SK-N-SH_RA	brain:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
35	CTCF	chr22:29808740-29808890	GM12870	blood:	n/a	n/a
36	CTCF	chr22:29808757-29809053	GM19239	blood:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
37	CTCF	chr22:29808880-29809030	HUVEC	blood vessel:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
38	CTCF	chr22:29808980-29809130	WI-38	lung:	n/a	n/a
39	CTCF	chr22:29808834-29809086	Lung_OC	lung:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
40	CTCF	chr22:29809000-29809150	HCM	heart:	n/a	chr22:29809139-29809147
41	CTCF	chr22:29808580-29808730	HFF-Myc	foreskin:	n/a	n/a
42	CTCF	chr22:29808769-29809052	MCF-7	breast:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
43	CTCF	chr22:29808960-29809110	GM12870	blood:	n/a	n/a
44	CTCF	chr22:29803249-29803282	GM13976	blood:	n/a	n/a
45	CTCF	chr22:29808880-29809030	HCPEpiC	choroid plexus:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
46	CTCF	chr22:29809000-29809150	HCT-116	colon:	n/a	chr22:29809139-29809147
47	CTCF	chr22:29808900-29809050	HPAF	blood vessel:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949
48	CTCF	chr22:29813206-29813280	GM13976	blood:	n/a	n/a
49	CTCF	chr22:29808760-29808910	BE2_C	brain:	n/a	n/a
50	CTCF	chr22:29808880-29809030	WERI-Rb-1	eye:	n/a	chr22:29808937-29808947 chr22:29808936-29808949 chr22:29808934-29808952 chr22:29808940-29808949 chr22:29808935-29808951 chr22:29808929-29808950 chr22:29808936-29808949

No.	Distal block	Cell Line	Cell type
1	chr22:29792125..29793668-chr22:29802474..29805006,2	K562	blood:
2	chr22:29801402..29803143-chr22:32549344..32551299,2	K562	blood:
3	chr22:29791047..29793663-chr22:29794223..29797120,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242156	TF binding region
AP1B1	TF binding region

Extended variants
information (count: 749 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:749 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540879331	chr22:29795395-29795396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563572302	chr22:29798050-29798051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371886502	chr22:29798081-29798082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187661185	chr22:29798114-29798115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552280145	chr22:29798165-29798166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552487834	chr22:29798202-29798203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533831454	chr22:29798223-29798224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs202130938	chr22:29798244-29798245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572887928	chr22:29799648-29799649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373791340	chr22:29799671-29799672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540357897	chr22:29799713-29799714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562235058	chr22:29799827-29799828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529338500	chr22:29799840-29799841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116012467	chr22:29799855-29799856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186152500	chr22:29799918-29799919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4034936	chr22:29804404-29804405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2881923	chr22:29804411-29804412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2348470	chr22:29804415-29804416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9613895	chr22:29804452-29804453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375948579	chr22:29804462-29804463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536980364	chr22:29804480-29804481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558406573	chr22:29804492-29804493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576697500	chr22:29804514-29804515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540639140	chr22:29804529-29804530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552891869	chr22:29804535-29804536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574451260	chr22:29804565-29804566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541904976	chr22:29804566-29804567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370850126	chr22:29804604-29804605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181106474	chr22:29804642-29804643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531919508	chr22:29804680-29804681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185637126	chr22:29804684-29804685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565395737	chr22:29804799-29804800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148930961	chr22:29804822-29804823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547480152	chr22:29804847-29804848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546637336	chr22:29804849-29804850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566064363	chr22:29804854-29804855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138768788	chr22:29804880-29804881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11705091	chr22:29804939-29804940	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs61324882	chr22:29804950-29804951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs397817798	chr22:29804953-29804954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569777090	chr22:29804994-29804995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538218839	chr22:29804996-29804997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542572421	chr22:29805054-29805055	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs562380190	chr22:29805057-29805058	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs367805651	chr22:29805066-29805067	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs570421690	chr22:29805067-29805068	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs534558460	chr22:29805068-29805069	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs58450976	chr22:29805119-29805120	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574364877	chr22:29805122-29805123	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs368523657	chr22:29805123-29805124	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29792600-29795400	Weak transcription	Fetal Intestine Small	intestine
2	chr22:29798000-29798400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:29799600-29800000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr22:29804400-29805800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr22:29804400-29806000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr22:29804800-29805000	Enhancers	GM12878-XiMat	blood
7	chr22:29804800-29805600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:29805000-29805400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:29805000-29805400	Flanking Active TSS	GM12878-XiMat	blood
10	chr22:29805000-29805400	Enhancers	HepG2	liver
11	chr22:29805000-29805600	Enhancers	Primary B cells from cord blood	blood
12	chr22:29805000-29805600	Enhancers	Primary B cells from peripheral blood	blood
13	chr22:29805400-29805600	Enhancers	GM12878-XiMat	blood
14	chr22:29805400-29807000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:29805600-29806600	Weak transcription	Primary B cells from cord blood	blood
16	chr22:29805600-29806800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr22:29805600-29806800	Weak transcription	GM12878-XiMat	blood
18	chr22:29805600-29807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:29805800-29807200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr22:29806000-29807000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr22:29806600-29808800	Enhancers	Primary B cells from cord blood	blood
22	chr22:29806800-29809200	Enhancers	Primary B cells from peripheral blood	blood
23	chr22:29806800-29810400	Enhancers	GM12878-XiMat	blood
24	chr22:29807000-29808400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:29807000-29809000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr22:29807200-29807800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr22:29807200-29808400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr22:29807800-29808400	Enhancers	Primary hematopoietic stem cells	blood
29	chr22:29807800-29808600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr22:29808200-29808400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:29808200-29808400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr22:29808200-29808600	Enhancers	Spleen	Spleen
33	chr22:29808400-29810400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr22:29808400-29810400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:29808400-29810800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr22:29808400-29810800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr22:29808400-29811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:29808600-29809000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr22:29808600-29810800	Weak transcription	Spleen	Spleen
40	chr22:29808800-29810800	Weak transcription	Primary B cells from cord blood	blood
41	chr22:29809000-29810200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr22:29809000-29810400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr22:29809000-29811000	Weak transcription	Placenta	Placenta
44	chr22:29809200-29810400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr22:29810200-29810400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr22:29810200-29810400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr22:29810200-29810600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr22:29810200-29810600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr22:29810200-29810600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr22:29810200-29810600	Enhancers	Primary T helper cells PMA-I stimulated	--

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