Variant report

Variant	esv3459891
Chromosome Location	chr2:177799277-177802875
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	chr2:177801167-177801703	K562	blood:	n/a	n/a
2	BCL11A	chr2:177800431-177800800	GM12878	blood:	n/a	n/a
3	BHLHE40	chr2:177799651-177800047	K562	blood:	n/a	n/a
4	BHLHE40	chr2:177801260-177801421	K562	blood:	n/a	n/a
5	BHLHE40	chr2:177799126-177799289	K562	blood:	n/a	n/a
6	BHLHE40	chr2:177800431-177800820	GM12878	blood:	n/a	n/a
7	CHD2	chr2:177800349-177800748	GM12878	blood:	n/a	n/a
8	CTCF	chr2:177799747-177799857	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr2:177799880-177800030	GM12869	blood:	n/a	n/a
10	CUX1	chr2:177800478-177800750	GM12878	blood:	n/a	n/a
11	E2F4	chr2:177800413-177800648	GM12878	blood:	n/a	chr2:177800489-177800503 chr2:177800492-177800499 chr2:177800492-177800499 chr2:177800492-177800499 chr2:177800491-177800500 chr2:177800488-177800500 chr2:177800489-177800504
12	E2F6	chr2:177800246-177800715	H1-hESC	embryonic stem cell:	n/a	chr2:177800489-177800503 chr2:177800492-177800499 chr2:177800492-177800499 chr2:177800492-177800499 chr2:177800491-177800500 chr2:177800488-177800500 chr2:177800489-177800504
13	EBF1	chr2:177800272-177801082	GM12878	blood:	n/a	n/a
14	EP300	chr2:177800448-177800843	GM12878	blood:	n/a	chr2:177800658-177800672 chr2:177800644-177800658 chr2:177800664-177800678
15	EP300	chr2:177800496-177800776	GM12878	blood:	n/a	chr2:177800658-177800672 chr2:177800644-177800658 chr2:177800664-177800678
16	EP300	chr2:177800234-177800818	GM12878	blood:	n/a	chr2:177800658-177800672 chr2:177800644-177800658 chr2:177800664-177800678
17	GATA3	chr2:177801935-177802135	SH-SY5Y	brain:	n/a	n/a
18	HCFC1	chr2:177798997-177799487	K562	blood:	n/a	n/a
19	IKZF1	chr2:177800668-177800851	GM12878	blood:	n/a	n/a
20	JUND	chr2:177798919-177799278	K562	blood:	n/a	n/a
21	MAFK	chr2:177799447-177799450	K562	blood:	n/a	n/a
22	MAX	chr2:177801145-177801493	NB4	blood:	n/a	n/a
23	MAX	chr2:177800302-177800831	GM12878	blood:	n/a	n/a
24	MAX	chr2:177801222-177801478	K562	blood:	n/a	n/a
25	MAX	chr2:177798960-177799291	K562	blood:	n/a	n/a
26	MAZ	chr2:177800208-177800247	GM12878	blood:	n/a	n/a
27	MXI1	chr2:177800451-177801002	GM12878	blood:	n/a	n/a
28	MXI1	chr2:177801729-177801906	GM12878	blood:	n/a	n/a
29	MYC	chr2:177799665-177800051	K562	blood:	n/a	n/a
30	NFIC	chr2:177800234-177800855	GM12878	blood:	n/a	n/a
31	NFYA	chr2:177798947-177799297	K562	blood:	n/a	n/a
32	NFYB	chr2:177798947-177799352	K562	blood:	n/a	n/a
33	NFYB	chr2:177799034-177799318	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:177794408-177803203	K562	blood:	n/a	n/a
35	POLR2A	chr2:177800894-177801204	MCF10A-Er-Src	breast:	n/a	n/a
36	RCOR1	chr2:177799873-177799962	K562	blood:	n/a	n/a
37	RCOR1	chr2:177800215-177801296	GM12878	blood:	n/a	n/a
38	RCOR1	chr2:177798928-177799369	K562	blood:	n/a	n/a
39	SPI1	chr2:177800460-177800867	HL-60	blood:	n/a	chr2:177800647-177800660
40	SPI1	chr2:177800467-177800856	GM12878	blood:	n/a	chr2:177800647-177800660
41	SPI1	chr2:177800186-177800880	GM12878	blood:	n/a	chr2:177800647-177800660
42	SPI1	chr2:177800253-177800813	GM12891	blood:	n/a	chr2:177800647-177800660
43	SPI1	chr2:177800516-177800774	GM12878	blood:	n/a	chr2:177800647-177800660
44	SPI1	chr2:177800361-177800846	GM12891	blood:	n/a	chr2:177800647-177800660
45	STAT1	chr2:177799957-177799972	GM12878	blood:	n/a	n/a
46	TBL1XR1	chr2:177799924-177800026	GM12878	blood:	n/a	n/a
47	TBL1XR1	chr2:177800418-177800859	GM12878	blood:	n/a	n/a
48	TBP	chr2:177800432-177801052	GM12878	blood:	n/a	n/a
49	TEAD4	chr2:177801095-177801537	K562	blood:	n/a	n/a
50	USF1	chr2:177798811-177799309	K562	blood:	n/a	chr2:177799106-177799117

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:177794438..177796025-chr2:177797807..177799689,2	K562	blood:

Variant related genes	Relation type
RNU6-187P	TF binding region
ENSG00000206866	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184847393	chr2:177799373-177799374	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs386653031	chr2:177799409-177799410	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs6707900	chr2:177799411-177799412	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs145164975	chr2:177799432-177799433	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs370156998	chr2:177799469-177799470	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188713001	chr2:177799476-177799477	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549136690	chr2:177799515-177799516	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs561306619	chr2:177799554-177799555	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs144844685	chr2:177799591-177799592	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs6737247	chr2:177799643-177799644	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs7603168	chr2:177799752-177799753	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538491610	chr2:177799765-177799766	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs559991669	chr2:177799793-177799794	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs180678527	chr2:177799817-177799818	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs549771890	chr2:177799828-177799829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148573121	chr2:177799852-177799853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566438201	chr2:177799881-177799882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145575975	chr2:177799934-177799935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553750200	chr2:177799944-177799945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578247937	chr2:177799968-177799969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545308789	chr2:177800044-177800045	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs569680970	chr2:177800092-177800093	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs557507705	chr2:177800096-177800097	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs147710117	chr2:177800138-177800139	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs7603723	chr2:177800167-177800168	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183871767	chr2:177800168-177800169	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs532687782	chr2:177800221-177800222	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs371125161	chr2:177800228-177800229	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs561132600	chr2:177800249-177800250	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs528420455	chr2:177800255-177800256	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs552869078	chr2:177800269-177800270	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs4894220	chr2:177800307-177800308	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs532253694	chr2:177800380-177800381	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs16864744	chr2:177800382-177800383	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs78571634	chr2:177800384-177800385	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs368475882	chr2:177800409-177800410	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs529764794	chr2:177800421-177800422	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs75243112	chr2:177800462-177800463	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs568172379	chr2:177800494-177800495	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs140899631	chr2:177800509-177800510	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs533812212	chr2:177800562-177800563	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs564996779	chr2:177800565-177800566	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs532443889	chr2:177800570-177800571	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs144772369	chr2:177800605-177800606	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs571997833	chr2:177800607-177800608	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs137943793	chr2:177800655-177800656	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs557020331	chr2:177800728-177800729	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs189323042	chr2:177800761-177800762	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs575752980	chr2:177800766-177800767	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs534975093	chr2:177800774-177800775	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177797000-177800800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:177797200-177799600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:177798000-177800200	Enhancers	GM12878-XiMat	blood
4	chr2:177798800-177800000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr2:177798800-177802200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:177799000-177799400	Enhancers	K562	blood
7	chr2:177799200-177800200	Enhancers	Fetal Heart	heart
8	chr2:177799600-177800200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:177799600-177800600	Enhancers	Colon Smooth Muscle	Colon
10	chr2:177799600-177800600	Enhancers	Fetal Muscle Leg	muscle
11	chr2:177799800-177800200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:177800000-177800200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:177800000-177801600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr2:177800200-177800600	Flanking Active TSS	GM12878-XiMat	blood
15	chr2:177800200-177801800	Enhancers	Primary B cells from peripheral blood	blood
16	chr2:177800600-177801600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:177800600-177801800	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:177800600-177802200	Enhancers	GM12878-XiMat	blood
19	chr2:177800800-177801200	Enhancers	Primary B cells from cord blood	blood
20	chr2:177800800-177802000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:177801000-177802000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:177801600-177802200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:177801600-177805200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:177801800-177802000	Enhancers	Colon Smooth Muscle	Colon
25	chr2:177802000-177805200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:177802200-177803200	Weak transcription	GM12878-XiMat	blood
27	chr2:177802200-177805200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:177802200-177805400	Weak transcription	Monocytes-CD14+_RO01746	blood

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