Variant report

Variant	esv1000178
Chromosome Location	chr22:31461678-31474550
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	CEBPB	chr22:31467052-31467286	HepG2	liver:	n/a	chr22:31467176-31467187
2	CHD2	chr22:31462184-31462198	K562	blood:	n/a	n/a
3	CTCF	chr22:31472547-31472614	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr22:31469974-31470073	Spleen_OC	spleen:	n/a	n/a
5	CTCF	chr22:31472100-31472250	BJ	skin:	n/a	n/a
6	CTCF	chr22:31471185-31471227	GM20000	blood:	n/a	n/a
7	CTCF	chr22:31461710-31461770	LNCaP	prostate:	n/a	n/a
8	CTCF	chr22:31473920-31474070	HepG2	liver:	n/a	n/a
9	CTCF	chr22:31470330-31470371	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr22:31470311-31470316	Kidney_OC	kidney:	n/a	n/a
11	EBF1	chr22:31464857-31465053	GM12878	blood:	n/a	chr22:31464938-31464949
12	EBF1	chr22:31464812-31465045	GM12878	blood:	n/a	chr22:31464938-31464949
13	FOS	chr22:31462970-31463147	MCF10A-Er-Src	breast:	n/a	n/a
14	FOXA1	chr22:31465639-31466100	HepG2	liver:	n/a	n/a
15	FOXA2	chr22:31465785-31465903	HepG2	liver:	n/a	n/a
16	FOXA2	chr22:31465606-31466115	A549	lung:	n/a	n/a
17	FOXA2	chr22:31465599-31466095	A549	lung:	n/a	n/a
18	MAFF	chr22:31472061-31472398	HepG2	liver:	n/a	chr22:31472227-31472245
19	MAFF	chr22:31472212-31472251	K562	blood:	n/a	chr22:31472227-31472245
20	MAFK	chr22:31472076-31472320	H1-hESC	embryonic stem cell:	n/a	chr22:31472233-31472244 chr22:31472223-31472243 chr22:31472228-31472243 chr22:31472232-31472243 chr22:31472232-31472243 chr22:31472233-31472244 chr22:31472225-31472241 chr22:31472226-31472240
21	MAFK	chr22:31472059-31472408	IMR90	lung:	n/a	chr22:31472233-31472244 chr22:31472223-31472243 chr22:31472228-31472243 chr22:31472232-31472243 chr22:31472232-31472243 chr22:31472233-31472244 chr22:31472225-31472241 chr22:31472226-31472240
22	MAFK	chr22:31472127-31472311	K562	blood:	n/a	chr22:31472233-31472244 chr22:31472223-31472243 chr22:31472228-31472243 chr22:31472232-31472243 chr22:31472232-31472243 chr22:31472233-31472244 chr22:31472225-31472241 chr22:31472226-31472240
23	MAFK	chr22:31472066-31472408	HepG2	liver:	n/a	chr22:31472233-31472244 chr22:31472223-31472243 chr22:31472228-31472243 chr22:31472232-31472243 chr22:31472232-31472243 chr22:31472233-31472244 chr22:31472225-31472241 chr22:31472226-31472240
24	MAFK	chr22:31472050-31472403	HepG2	liver:	n/a	chr22:31472233-31472244 chr22:31472223-31472243 chr22:31472228-31472243 chr22:31472232-31472243 chr22:31472232-31472243 chr22:31472233-31472244 chr22:31472225-31472241 chr22:31472226-31472240
25	MYC	chr22:31469198-31469369	HUVEC	blood vessel:	n/a	n/a
26	MYC	chr22:31469371-31469379	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr22:31463998-31464016	HepG2	liver:	n/a	n/a
28	POLR2A	chr22:31469233-31469307	HepG2	liver:	n/a	n/a
29	POLR2A	chr22:31469186-31469203	HepG2	liver:	n/a	n/a
30	POLR2A	chr22:31473811-31474035	HepG2	liver:	n/a	n/a
31	ZNF217	chr22:31473766-31474031	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:31473203-31473253	PFSK-1	brain:	n/a
2	chr22:31473203-31473253	PFSK-1	brain:	n/a
3	chr22:31473203-31473253	HRCEpiC	kidney:	n/a
4	chr22:31473203-31473253	HEK293	kidney:	embryo
5	chr22:31473203-31473253	HCT-116	colon:	n/a
6	chr22:31473203-31473253	ovcar-3	ovarian:	n/a
7	chr22:31473203-31473253	U87	brain:	n/a
8	chr22:31473203-31473253	AG09319	gingival:	n/a
9	chr22:31473203-31473253	HPAEpiC	pulmonary alveolar:	n/a
10	chr22:31473203-31473253	Hepatocyte	liver:	n/a
11	chr22:31473203-31473253	LNCaP	prostate:	n/a
12	chr22:31473203-31473253	GM12892	blood:	n/a
13	chr22:31473203-31473253	H1-hESC	embryonic stem cell:	embryo
14	chr22:31473203-31473253	HIPEpiC	eye:	n/a
15	chr22:31473203-31473253	Caco-2	colon:	n/a
16	chr22:31473203-31473253	NB4	blood:	n/a
17	chr22:31473203-31473253	A549	lung:	n/a
18	chr22:31473203-31473253	SK-N-MC	brain:	n/a
19	chr22:31473203-31473253	AG04449	skin:	fetal
20	chr22:31473203-31473253	SK-N-SH	brain:	n/a
21	chr22:31473203-31473253	NHBE	bronchial:	n/a
22	chr22:31473203-31473253	AG04450	lung:	fetal
23	chr22:31473203-31473253	NT2-D1	testis:	n/a
24	chr22:31473203-31473253	K562	blood:	n/a
25	chr22:31473203-31473253	HepG2	liver:	n/a
26	chr22:31473203-31473253	ProgFib	skin:	n/a
27	chr22:31473203-31473253	AG10803	skin:	n/a
28	chr22:31473203-31473253	Hela-S3	cervix:	n/a
29	chr22:31473203-31473253	HAEpiC	amniotic membrane:	n/a
30	chr22:31473203-31473253	MCF-7	breast:	n/a
31	chr22:31473203-31473253	HCF	heart:	n/a
32	chr22:31473203-31473253	RPTEC	kidney:	n/a
33	chr22:31473203-31473253	HRE	kidney:	n/a
34	chr22:31473203-31473253	IMR90	lung:	fetal
35	chr22:31473203-31473253	ECC-1	luminal epithelium:	n/a
36	chr22:31473203-31473253	HRPEpiC	eye:	n/a
37	chr22:31473203-31473253	HEEpiC	esophagus:	n/a
38	chr22:31473203-31473253	HCM	heart:	n/a
39	chr22:31473203-31473253	Jurkat	blood:	n/a
40	chr22:31473203-31473253	MCF10A-Er-Src	breast:	n/a
41	chr22:31473203-31473253	BE2_C	brain:	n/a
42	chr22:31473203-31473253	GM06990	blood:	n/a
43	chr22:31473203-31473253	GM12891	blood:	n/a
44	chr22:31473203-31473253	GM19239	blood:	n/a
45	chr22:31473203-31473253	NHDF-neo	bronchial:	n/a
46	chr22:31473203-31473253	GM12878	blood:	n/a
47	chr22:31473203-31473253	BJ	skin:	n/a
48	chr22:31473203-31473253	SAEC	small airway:	n/a
49	chr22:31473203-31473253	T-47D	breast:	n/a
50	chr22:31473203-31473253	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31459554..31462165-chr22:31463445..31465017,2	K562	blood:
2	chr22:31465732..31467345-chr22:31476374..31477926,2	MCF-7	breast:
3	chr22:31455769..31462183-chr22:31475245..31482356,13	K562	blood:
4	chr22:31450083..31452668-chr22:31463620..31466392,3	MCF-7	breast:
5	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
6	chr22:31363626..31365762-chr22:31470443..31472227,2	MCF-7	breast:
7	chr22:31460561..31462331-chr22:31465438..31468064,2	K562	blood:
8	chr22:31452690..31454726-chr22:31460173..31463712,3	MCF-7	breast:
9	chr22:31460561..31462331-chr22:31465438..31468064,2	K562	blood:
10	chr22:31457775..31462699-chr22:31474304..31478789,5	MCF-7	breast:
11	chr22:31464585..31466786-chr22:31479626..31481207,2	MCF-7	breast:
12	chr22:31455775..31461842-chr22:31476267..31480955,13	MCF-7	breast:
13	chr22:31457775..31462699-chr22:31474304..31478789,5	MCF-7	breast:
14	chr22:31458274..31462644-chr22:31476246..31482425,10	K562	blood:

Variant related genes	Relation type
SMTN	TF binding region
SMTN	CpG island
ENSG00000253352	chromatin interactions
ENSG00000183963	chromatin interactions
ENSG00000133422	chromatin interactions
ENSG00000273387	chromatin interactions

Extended variants
information (count: 544 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554144793	chr22:31461682-31461683	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs187743212	chr22:31461690-31461691	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs541461494	chr22:31461783-31461784	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs554936079	chr22:31461937-31461938	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575040161	chr22:31461979-31461980	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs543855992	chr22:31461980-31461981	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs564312246	chr22:31461992-31461993	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs191040070	chr22:31462093-31462094	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs9609214	chr22:31462122-31462123	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs558585467	chr22:31462135-31462136	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs540542801	chr22:31462159-31462160	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs560215509	chr22:31462165-31462166	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs183272927	chr22:31462175-31462176	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs529186339	chr22:31462182-31462183	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs549439191	chr22:31462301-31462302	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs55911547	chr22:31462302-31462303	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs202122017	chr22:31462303-31462304	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs200454327	chr22:31462307-31462308	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs34112398	chr22:31462320-31462321	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs142437489	chr22:31462334-31462335	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs187207829	chr22:31462357-31462358	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs534158687	chr22:31462378-31462379	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs192946211	chr22:31462450-31462451	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs557403176	chr22:31462451-31462452	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs184743113	chr22:31462513-31462514	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs536547670	chr22:31462601-31462602	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs188118767	chr22:31462606-31462607	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs116321830	chr22:31462644-31462645	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs543914994	chr22:31462649-31462650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs138568115	chr22:31462723-31462724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577645536	chr22:31462740-31462741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146251607	chr22:31462744-31462745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547910139	chr22:31462766-31462767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560284053	chr22:31462769-31462770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529208398	chr22:31462811-31462812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28706982	chr22:31462841-31462842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28368354	chr22:31462843-31462844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542904640	chr22:31462889-31462890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562886462	chr22:31462890-31462891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146300568	chr22:31462949-31462950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57291990	chr22:31462950-31462951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs113908190	chr22:31462955-31462956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55962742	chr22:31462993-31462994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs527777730	chr22:31463002-31463003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547723095	chr22:31463007-31463008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567471677	chr22:31463072-31463073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536556555	chr22:31463078-31463079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550024833	chr22:31463085-31463086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568531130	chr22:31463155-31463156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561333439	chr22:31463183-31463184	Weak transcription	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
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	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
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
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20858604	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31457000-31465400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr22:31458800-31465200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:31459400-31465200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:31459800-31461800	Active TSS	K562	blood
5	chr22:31461000-31462200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr22:31461200-31464800	Weak transcription	Fetal Intestine Large	intestine
7	chr22:31461200-31464800	Weak transcription	Fetal Intestine Small	intestine
8	chr22:31461200-31465400	Weak transcription	HepG2	liver
9	chr22:31461800-31464400	Weak transcription	K562	blood
10	chr22:31464400-31465200	Enhancers	K562	blood
11	chr22:31464400-31465600	Weak transcription	A549	lung
12	chr22:31464800-31465400	Enhancers	Fetal Intestine Large	intestine
13	chr22:31464800-31465600	Enhancers	Fetal Intestine Small	intestine
14	chr22:31465000-31465800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:31465000-31466200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:31465200-31466200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr22:31465200-31466400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr22:31465400-31465800	Enhancers	HepG2	liver
19	chr22:31465400-31466200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:31465400-31466200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr22:31465400-31466400	Enhancers	NHEK	skin
22	chr22:31465400-31471600	Weak transcription	Fetal Intestine Large	intestine
23	chr22:31465600-31466200	Enhancers	A549	lung
24	chr22:31465600-31466200	Enhancers	HMEC	breast
25	chr22:31465600-31466200	Enhancers	Osteobl	bone
26	chr22:31465800-31475000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:31466200-31467400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr22:31466200-31471800	Weak transcription	Osteobl	bone
29	chr22:31466200-31472000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr22:31466400-31471800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr22:31466400-31471800	Weak transcription	NHEK	skin
32	chr22:31467800-31471800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:31468000-31471800	Weak transcription	Right Atrium	heart
34	chr22:31469000-31469800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr22:31469200-31469400	Enhancers	Lung	lung
36	chr22:31469200-31469800	Enhancers	HUVEC	blood vessel
37	chr22:31469800-31470000	Enhancers	Adipose Nuclei	Adipose
38	chr22:31469800-31472600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr22:31469800-31476400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr22:31469800-31476400	Weak transcription	HUVEC	blood vessel
41	chr22:31470000-31470200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr22:31470000-31470200	Enhancers	Spleen	Spleen
43	chr22:31470000-31471400	Weak transcription	Adipose Nuclei	Adipose
44	chr22:31470200-31475000	Weak transcription	Spleen	Spleen
45	chr22:31470600-31471400	Enhancers	Left Ventricle	heart
46	chr22:31470600-31471800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr22:31470800-31472600	Enhancers	Fetal Muscle Leg	muscle
48	chr22:31471200-31472400	Enhancers	Placenta	Placenta
49	chr22:31471200-31473000	Enhancers	Fetal Stomach	stomach
50	chr22:31471200-31473000	Enhancers	Stomach Smooth Muscle	stomach

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