Variant report

Variant	esv3334733
Chromosome Location	chr2:144939582-144941530
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	ATF2	chr2:144941155-144941769	GM12878	blood:	n/a	n/a
2	BATF	chr2:144941269-144941565	GM12878	blood:	n/a	n/a
3	BATF	chr2:144941255-144941630	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:144941399-144941632	GM12878	blood:	n/a	n/a
5	BHLHE40	chr2:144941310-144941789	GM12878	blood:	n/a	n/a
6	CEBPB	chr2:144940529-144940617	HepG2	liver:	n/a	chr2:144940547-144940560 chr2:144940548-144940559
7	CEBPB	chr2:144940548-144940601	K562	blood:	n/a	chr2:144940548-144940559
8	CEBPB	chr2:144941301-144941642	IMR90	lung:	n/a	n/a
9	CHD1	chr2:144941321-144941607	GM12878	blood:	n/a	n/a
10	CHD2	chr2:144941231-144941667	GM12878	blood:	n/a	n/a
11	CREB1	chr2:144941301-144941811	GM12878	blood:	n/a	n/a
12	CTCF	chr2:144941383-144941487	ProgFib	skin:	n/a	n/a
13	CTCF	chr2:144941508-144941554	GM19239	blood:	n/a	n/a
14	CTCF	chr2:144941476-144941604	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr2:144941390-144941599	GM12878	blood:	n/a	n/a
16	EBF1	chr2:144941345-144941607	GM12878	blood:	n/a	n/a
17	ELF1	chr2:144941354-144941676	GM12878	blood:	n/a	chr2:144941498-144941509
18	ELK1	chr2:144941401-144941624	GM12878	blood:	n/a	n/a
19	EP300	chr2:144941367-144941621	GM12878	blood:	n/a	n/a
20	EP300	chr2:144940812-144940825	GM12878	blood:	n/a	n/a
21	EP300	chr2:144941277-144941662	GM12878	blood:	n/a	n/a
22	EP300	chr2:144941310-144941713	GM12878	blood:	n/a	n/a
23	FOXM1	chr2:144941229-144941680	GM12878	blood:	n/a	n/a
24	FOXP2	chr2:144941318-144941597	PFSK-1	brain:	n/a	n/a
25	MAFK	chr2:144941340-144941595	IMR90	lung:	n/a	n/a
26	MAX	chr2:144941380-144941676	GM12878	blood:	n/a	n/a
27	MXI1	chr2:144941399-144941690	GM12878	blood:	n/a	n/a
28	NFIC	chr2:144941219-144941755	GM12878	blood:	n/a	n/a
29	NFIC	chr2:144941192-144941768	GM12878	blood:	n/a	n/a
30	NFYB	chr2:144941344-144941655	GM12878	blood:	n/a	n/a
31	PAX5	chr2:144941351-144941593	GM12878	blood:	n/a	n/a
32	PAX5	chr2:144941437-144941620	GM12878	blood:	n/a	n/a
33	PAX5	chr2:144941308-144941656	GM12878	blood:	n/a	n/a
34	PAX5	chr2:144941299-144941661	GM12878	blood:	n/a	n/a
35	PBX3	chr2:144941429-144941641	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:144941500-144941625	MCF-7	breast:	n/a	n/a
37	POLR2A	chr2:144940592-144941195	K562	blood:	n/a	n/a
38	POLR2A	chr2:144941398-144943000	K562	blood:	n/a	n/a
39	POLR2A	chr2:144940838-144941038	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr2:144941530-144941572	Gliobla	brain:	n/a	n/a
41	POLR2A	chr2:144938624-144940127	K562	blood:	n/a	n/a
42	POU2F2	chr2:144941238-144941683	GM12878	blood:	n/a	chr2:144941505-144941518 chr2:144941505-144941518 chr2:144941507-144941517 chr2:144941508-144941515 chr2:144941507-144941516 chr2:144941507-144941517 chr2:144941504-144941518 chr2:144941506-144941518
43	POU2F2	chr2:144941277-144941671	GM12891	blood:	n/a	chr2:144941505-144941518 chr2:144941505-144941518 chr2:144941507-144941517 chr2:144941508-144941515 chr2:144941507-144941516 chr2:144941507-144941517 chr2:144941504-144941518 chr2:144941506-144941518
44	POU2F2	chr2:144941219-144941806	GM12878	blood:	n/a	chr2:144941505-144941518 chr2:144941505-144941518 chr2:144941507-144941517 chr2:144941508-144941515 chr2:144941507-144941516 chr2:144941507-144941517 chr2:144941504-144941518 chr2:144941506-144941518
45	POU2F2	chr2:144941375-144941616	GM12878	blood:	n/a	chr2:144941505-144941518 chr2:144941505-144941518 chr2:144941507-144941517 chr2:144941508-144941515 chr2:144941507-144941516 chr2:144941507-144941517 chr2:144941504-144941518 chr2:144941506-144941518
46	POU2F2	chr2:144941253-144941667	GM12891	blood:	n/a	chr2:144941505-144941518 chr2:144941505-144941518 chr2:144941507-144941517 chr2:144941508-144941515 chr2:144941507-144941516 chr2:144941507-144941517 chr2:144941504-144941518 chr2:144941506-144941518
47	RAD21	chr2:144941342-144941609	IMR90	lung:	n/a	n/a
48	RCOR1	chr2:144941328-144941610	GM12878	blood:	n/a	n/a
49	RFX5	chr2:144941511-144941515	GM12878	blood:	n/a	n/a
50	RUNX3	chr2:144941258-144941795	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:144939747..144942028-chr2:144942409..144944936,2	K562	blood:

Variant related genes	Relation type
GTDC1	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186787889	chr2:144939615-144939616	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs568387241	chr2:144939684-144939685	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs147366348	chr2:144939740-144939741	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs540541699	chr2:144939763-144939764	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs76242376	chr2:144939765-144939766	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs191634923	chr2:144939838-144939839	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs139051900	chr2:144939870-144939871	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs562428350	chr2:144939884-144939885	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs150910513	chr2:144939893-144939894	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs149869548	chr2:144939904-144939905	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs541990095	chr2:144939925-144939926	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs116201684	chr2:144939978-144939979	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs145130537	chr2:144939982-144939983	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs375286292	chr2:144940010-144940011	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs570863293	chr2:144940014-144940015	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs552443226	chr2:144940025-144940026	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs560854809	chr2:144940026-144940027	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs571171050	chr2:144940043-144940044	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs549775722	chr2:144940090-144940091	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs531589445	chr2:144940093-144940094	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs539915385	chr2:144940142-144940143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10460254	chr2:144940147-144940148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28420848	chr2:144940166-144940167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535954178	chr2:144940172-144940173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183965635	chr2:144940251-144940252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566658696	chr2:144940350-144940351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34895685	chr2:144940364-144940365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58849322	chr2:144940365-144940366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199724141	chr2:144940366-144940367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557912671	chr2:144940367-144940368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558649661	chr2:144940375-144940376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs66676467	chr2:144940384-144940385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34395553	chr2:144940385-144940386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372174246	chr2:144940386-144940387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28526162	chr2:144940387-144940388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560723599	chr2:144940395-144940396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534023139	chr2:144940407-144940408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192432108	chr2:144940420-144940421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560384662	chr2:144940429-144940430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182352991	chr2:144940441-144940442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543825761	chr2:144940450-144940451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562966938	chr2:144940459-144940460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556144883	chr2:144940462-144940463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574403045	chr2:144940467-144940468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541535722	chr2:144940468-144940469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568124840	chr2:144940474-144940475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201143338	chr2:144940481-144940482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375966703	chr2:144940521-144940522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13390860	chr2:144940576-144940577	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs573237395	chr2:144940627-144940628	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144923600-144941200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:144923800-144955600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:144928000-144941400	Weak transcription	Lung	lung
4	chr2:144928000-144943400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:144928200-144965400	Weak transcription	Left Ventricle	heart
6	chr2:144929600-144941200	Weak transcription	Fetal Brain Female	brain
7	chr2:144931200-144941400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:144931200-144951800	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:144931400-144973800	Weak transcription	Ovary	ovary
10	chr2:144931600-144941400	Weak transcription	Brain Angular Gyrus	brain
11	chr2:144931600-144944600	Weak transcription	Liver	Liver
12	chr2:144932000-144941200	Weak transcription	Adipose Nuclei	Adipose
13	chr2:144932000-144960600	Weak transcription	HSMMtube	muscle
14	chr2:144932000-144965000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:144932200-144955400	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:144934800-144940800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:144935600-144939800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:144936400-144940800	Weak transcription	Primary T cells from cord blood	blood
19	chr2:144936400-144941400	Weak transcription	Fetal Lung	lung
20	chr2:144936600-144941000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:144936800-144941000	Weak transcription	Primary B cells from cord blood	blood
22	chr2:144936800-144941200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:144937600-144955400	Weak transcription	Fetal Intestine Small	intestine
24	chr2:144938400-144940600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:144938800-144940800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:144938800-144941000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:144938800-144941400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:144939200-144941200	Weak transcription	NHDF-Ad	bronchial
29	chr2:144939200-144951800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:144939400-144941400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:144940200-144955600	Weak transcription	HSMM	muscle
32	chr2:144940600-144941200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:144940800-144941200	Enhancers	Primary T cells from cord blood	blood
34	chr2:144940800-144941200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr2:144940800-144941400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr2:144940800-144941600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr2:144940800-144942000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:144940800-144942400	Enhancers	Dnd41	blood
39	chr2:144940800-144944000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:144940800-144945200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:144941000-144941200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr2:144941000-144941400	Enhancers	Primary B cells from cord blood	blood
43	chr2:144941000-144941800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr2:144941000-144942000	ZNF genes & repeats	GM12878-XiMat	blood
45	chr2:144941200-144941400	Enhancers	Primary B cells from peripheral blood	blood
46	chr2:144941200-144941400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr2:144941200-144941400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr2:144941200-144941400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:144941200-144941400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:144941200-144941600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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