Variant report

Variant	esv2636937
Chromosome Location	chr2:73285914-73287515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:246)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr2:73286866-73287053	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:73286115-73286323	K562	blood:	n/a	n/a
3	POLR2A	chr2:73286172-73286972	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:73286176-73286196	K562	blood:	n/a	n/a
5	STAT3	chr2:73287510-73287561	MCF10A-Er-Src	breast:	n/a	n/a

(count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:73287456-73287506	AG09309	skin:	n/a
2	chr2:73286465-73286515	K562	blood:	n/a
3	chr2:73287456-73287506	AG09309	skin:	n/a
4	chr2:73286465-73286515	K562	blood:	n/a
5	chr2:73286465-73286515	Hepatocyte	liver:	n/a
6	chr2:73286489-73286539	MCF-7	breast:	n/a
7	chr2:73287456-73287506	HRCEpiC	kidney:	n/a
8	chr2:73287413-73287463	NB4	blood:	n/a
9	chr2:73287456-73287506	GM06990	blood:	n/a
10	chr2:73286465-73286515	PFSK-1	brain:	n/a
11	chr2:73287456-73287506	ECC-1	luminal epithelium:	n/a
12	chr2:73287456-73287506	BJ	skin:	n/a
13	chr2:73287413-73287463	HIPEpiC	eye:	n/a
14	chr2:73287456-73287506	NHDF-neo	bronchial:	n/a
15	chr2:73287456-73287506	HEK293	kidney:	embryo
16	chr2:73287413-73287463	CMK	blood:	n/a
17	chr2:73287456-73287506	HRE	kidney:	n/a
18	chr2:73286489-73286539	T-47D	breast:	n/a
19	chr2:73286489-73286539	AG04450	lung:	fetal
20	chr2:73286465-73286515	HRCEpiC	kidney:	n/a
21	chr2:73287413-73287463	H1-hESC	embryonic stem cell:	embryo
22	chr2:73286465-73286515	MCF10A-Er-Src	breast:	n/a
23	chr2:73287456-73287506	HAEpiC	amniotic membrane:	n/a
24	chr2:73287413-73287463	ProgFib	skin:	n/a
25	chr2:73286489-73286539	HCPEpiC	choroid plexus:	n/a
26	chr2:73287456-73287506	SK-N-SH	brain:	n/a
27	chr2:73287456-73287506	GM12878	blood:	n/a
28	chr2:73287413-73287463	SK-N-MC	brain:	n/a
29	chr2:73286489-73286539	K562	blood:	n/a
30	chr2:73287413-73287463	ECC-1	luminal epithelium:	n/a
31	chr2:73286465-73286515	ovcar-3	ovarian:	n/a
32	chr2:73286489-73286539	NHDF-neo	bronchial:	n/a
33	chr2:73287456-73287506	HEEpiC	esophagus:	n/a
34	chr2:73286489-73286539	SK-N-SH	brain:	n/a
35	chr2:73286465-73286515	AG10803	skin:	n/a
36	chr2:73286465-73286515	HCPEpiC	choroid plexus:	n/a
37	chr2:73287456-73287506	HMEC	breast:	n/a
38	chr2:73287456-73287506	IMR90	lung:	fetal
39	chr2:73287456-73287506	HNPCEpiC	eye:	n/a
40	chr2:73286489-73286539	Hela-S3	cervix:	n/a
41	chr2:73286489-73286539	BE2_C	brain:	n/a
42	chr2:73286465-73286515	BE2_C	brain:	n/a
43	chr2:73286465-73286515	HPAEpiC	pulmonary alveolar:	n/a
44	chr2:73286465-73286515	HUVEC	blood vessel:	n/a
45	chr2:73286489-73286539	SAEC	small airway:	n/a
46	chr2:73286489-73286539	HRPEpiC	eye:	n/a
47	chr2:73286489-73286539	AG09319	gingival:	n/a
48	chr2:73287413-73287463	GM06990	blood:	n/a
49	chr2:73287413-73287463	PrEC	prostate:	n/a
50	chr2:73287413-73287463	NHDF-neo	bronchial:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:73282730..73284248-chr2:73287345..73289502,2	K562	blood:
2	chr2:73282143..73284248-chr2:73287345..73289978,3	K562	blood:
3	chr2:73275749..73277382-chr2:73286983..73288785,2	K562	blood:
4	chr2:73284849..73288387-chr2:73297041..73300553,5	K562	blood:
5	chr2:73287037..73289091-chr2:73298093..73299676,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SFXN5-1	chr2:73286137-73286287	NONHSAT071591

No data

Variant related genes	Relation type
SFXN5	TF binding region
SFXN5	CpG island
ENSG00000144040	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183636586	chr2:73285943-73285944	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558696773	chr2:73285991-73285992	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs17008631	chr2:73285996-73285997	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs141590019	chr2:73286017-73286018	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189177315	chr2:73286029-73286030	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150481501	chr2:73286119-73286120	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145304620	chr2:73286161-73286162	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs531757258	chr2:73286179-73286180	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs374480400	chr2:73286199-73286200	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs550173264	chr2:73286211-73286212	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs7566904	chr2:73286214-73286215	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs539083266	chr2:73286242-73286243	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs192573760	chr2:73286249-73286250	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs368894230	chr2:73286250-73286251	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs185182863	chr2:73286313-73286314	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs190100403	chr2:73286316-73286317	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs116089822	chr2:73286340-73286341	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs114103779	chr2:73286341-73286342	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs1561246	chr2:73286344-73286345	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs73945740	chr2:73286383-73286384	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs137947264	chr2:73286465-73286466	Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs181241246	chr2:73286489-73286490	Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs577672991	chr2:73286516-73286517	Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs186514176	chr2:73286530-73286531	Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs559972644	chr2:73286562-73286563	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs550826619	chr2:73286662-73286663	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs188279311	chr2:73286667-73286668	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs543212363	chr2:73286698-73286699	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs113996436	chr2:73286701-73286702	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs544684048	chr2:73286710-73286711	Weak transcription Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs550208185	chr2:73286882-73286883	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs569330254	chr2:73286905-73286906	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs77574992	chr2:73286907-73286908	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs563067394	chr2:73287001-73287002	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs112679211	chr2:73287041-73287042	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs374376383	chr2:73287177-73287178	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs111828119	chr2:73287190-73287191	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs13406318	chr2:73287225-73287226	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534006784	chr2:73287254-73287255	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375382713	chr2:73287274-73287275	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs567224180	chr2:73287299-73287300	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536625896	chr2:73287344-73287345	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs180697920	chr2:73287388-73287389	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs140425659	chr2:73287395-73287396	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs142734284	chr2:73287456-73287457	Weak transcription Enhancers Strong transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
2	chr2:73249400-73290000	Weak transcription	HUVEC	blood vessel
3	chr2:73249600-73290000	Weak transcription	NHLF	lung
4	chr2:73256800-73290000	Weak transcription	HSMM	muscle
5	chr2:73259200-73291200	Weak transcription	Small Intestine	intestine
6	chr2:73262800-73290600	Weak transcription	NHEK	skin
7	chr2:73264200-73290600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:73267800-73289400	Weak transcription	K562	blood
9	chr2:73268600-73289400	Weak transcription	Right Ventricle	heart
10	chr2:73272600-73291200	Weak transcription	Fetal Heart	heart
11	chr2:73275800-73297000	Weak transcription	Pancreas	Pancrea
12	chr2:73277800-73290400	Weak transcription	HMEC	breast
13	chr2:73277800-73290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:73277800-73291200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:73281200-73289800	Weak transcription	NHDF-Ad	bronchial
16	chr2:73283400-73286000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:73283400-73286400	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr2:73283600-73286000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:73283600-73286400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
20	chr2:73283800-73286200	Strong transcription	Primary T cells from cord blood	blood
21	chr2:73283800-73286200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:73284000-73286400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:73284200-73286200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:73284200-73287000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:73284200-73290000	Weak transcription	Hela-S3	cervix
26	chr2:73284400-73286000	Strong transcription	Esophagus	oesophagus
27	chr2:73284600-73286200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:73284600-73286200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:73284600-73286800	Strong transcription	HepG2	liver
30	chr2:73284600-73290000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:73284600-73290600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:73284600-73296600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:73284800-73286000	Strong transcription	Fetal Stomach	stomach
34	chr2:73284800-73290200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:73284800-73296400	Weak transcription	Fetal Kidney	kidney
36	chr2:73285000-73286000	Strong transcription	Liver	Liver
37	chr2:73285000-73286000	Weak transcription	Brain Angular Gyrus	brain
38	chr2:73285000-73286000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:73285000-73286200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:73285000-73286200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:73285000-73286200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:73285000-73286200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:73285000-73286200	Weak transcription	Spleen	Spleen
44	chr2:73285000-73289200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:73285000-73289400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:73285000-73289400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:73285000-73289600	Weak transcription	Fetal Lung	lung
48	chr2:73285000-73289800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr2:73285000-73290000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:73285000-73290000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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