Variant report

Variant	nsv979668
Chromosome Location	chr22:31473892-31475436
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	BHLHE40	chr22:31475024-31475497	HepG2	liver:	n/a	n/a
2	CHD2	chr22:31475397-31475615	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr22:31475094-31475120	HepG2	liver:	n/a	n/a
4	CTCF	chr22:31475360-31475510	HepG2	liver:	n/a	n/a
5	CTCF	chr22:31475040-31475190	Caco-2	colon:	n/a	n/a
6	CTCF	chr22:31475066-31475092	HepG2	liver:	n/a	n/a
7	CTCF	chr22:31474960-31475110	HepG2	liver:	n/a	n/a
8	CTCF	chr22:31474980-31475130	Caco-2	colon:	n/a	n/a
9	CTCF	chr22:31474603-31474636	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr22:31473920-31474070	HepG2	liver:	n/a	n/a
11	EP300	chr22:31475007-31475464	HepG2	liver:	n/a	chr22:31475173-31475183
12	EP300	chr22:31475006-31475291	HepG2	liver:	n/a	chr22:31475173-31475183
13	EP300	chr22:31475053-31475409	HepG2	liver:	n/a	chr22:31475173-31475183
14	FOXA1	chr22:31474948-31475412	HepG2	liver:	n/a	n/a
15	FOXA1	chr22:31474952-31475403	HepG2	liver:	n/a	n/a
16	FOXA1	chr22:31474869-31475435	HepG2	liver:	n/a	n/a
17	FOXA1	chr22:31474875-31475414	HepG2	liver:	n/a	n/a
18	FOXA2	chr22:31474977-31475367	HepG2	liver:	n/a	n/a
19	HEY1	chr22:31475108-31475562	HepG2	liver:	n/a	n/a
20	HNF4A	chr22:31475005-31475355	HepG2	liver:	n/a	chr22:31475226-31475238 chr22:31475225-31475239 chr22:31475225-31475239 chr22:31475225-31475238 chr22:31475226-31475239 chr22:31475224-31475239 chr22:31475224-31475239 chr22:31475226-31475238
21	HNF4A	chr22:31475020-31475487	HepG2	liver:	n/a	chr22:31475226-31475238 chr22:31475225-31475239 chr22:31475225-31475239 chr22:31475225-31475238 chr22:31475226-31475239 chr22:31475224-31475239 chr22:31475224-31475239 chr22:31475226-31475238
22	HNF4A	chr22:31475058-31475338	HepG2	liver:	n/a	chr22:31475226-31475238 chr22:31475225-31475239 chr22:31475225-31475239 chr22:31475225-31475238 chr22:31475226-31475239 chr22:31475224-31475239 chr22:31475224-31475239 chr22:31475226-31475238
23	HNF4G	chr22:31475002-31475553	HepG2	liver:	n/a	chr22:31475226-31475238 chr22:31475225-31475239 chr22:31475225-31475239 chr22:31475225-31475238 chr22:31475226-31475239 chr22:31475224-31475239 chr22:31475226-31475238
24	MAX	chr22:31475143-31475448	HepG2	liver:	n/a	n/a
25	MBD4	chr22:31474963-31475685	HepG2	liver:	n/a	n/a
26	MYBL2	chr22:31474943-31475533	HepG2	liver:	n/a	n/a
27	MYBL2	chr22:31474936-31475537	HepG2	liver:	n/a	n/a
28	MYC	chr22:31475172-31475187	HepG2	liver:	n/a	n/a
29	MYC	chr22:31475193-31475432	HepG2	liver:	n/a	n/a
30	NFIC	chr22:31474949-31475560	HepG2	liver:	n/a	n/a
31	PBX3	chr22:31475362-31475536	GM12878	blood:	n/a	n/a
32	PBX3	chr22:31475379-31475740	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr22:31475011-31475518	HepG2	liver:	n/a	n/a
34	POLR2A	chr22:31474941-31475539	HepG2	liver:	n/a	n/a
35	POLR2A	chr22:31475067-31475631	K562	blood:	n/a	n/a
36	POLR2A	chr22:31473811-31474035	HepG2	liver:	n/a	n/a
37	POLR2A	chr22:31474992-31475582	HepG2	liver:	n/a	n/a
38	POLR2A	chr22:31475210-31475461	HepG2	liver:	n/a	n/a
39	POLR2A	chr22:31475372-31475643	K562	blood:	n/a	n/a
40	POLR2A	chr22:31474931-31476060	HepG2	liver:	n/a	n/a
41	RAD21	chr22:31475121-31475593	HepG2	liver:	n/a	n/a
42	RAD21	chr22:31475018-31475324	HepG2	liver:	n/a	n/a
43	RCOR1	chr22:31475346-31475576	HepG2	liver:	n/a	n/a
44	SP1	chr22:31474953-31475699	HepG2	liver:	n/a	n/a
45	SP2	chr22:31475168-31475679	HepG2	liver:	n/a	chr22:31475480-31475503
46	STAT3	chr22:31474556-31474568	MCF10A-Er-Src	breast:	n/a	n/a
47	TCF7L2	chr22:31475126-31475452	HepG2	liver:	n/a	chr22:31475225-31475241 chr22:31475225-31475241 chr22:31475229-31475238 chr22:31475226-31475240 chr22:31475228-31475237 chr22:31475229-31475239
48	TCF7L2	chr22:31475062-31475350	Hela-S3	cervix:	n/a	chr22:31475225-31475241 chr22:31475225-31475241 chr22:31475229-31475238 chr22:31475226-31475240 chr22:31475228-31475237 chr22:31475229-31475239
49	TEAD4	chr22:31475017-31475472	HepG2	liver:	n/a	n/a
50	ZEB1	chr22:31474826-31475845	HepG2	liver:	n/a	chr22:31475405-31475416 chr22:31475404-31475416 chr22:31475406-31475413

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:31475122-31475172	BE2_C	brain:	n/a
2	chr22:31475122-31475172	BE2_C	brain:	n/a
3	chr22:31475122-31475172	CMK	blood:	n/a
4	chr22:31475122-31475172	HIPEpiC	eye:	n/a
5	chr22:31475122-31475172	A549	lung:	n/a
6	chr22:31475122-31475172	AG10803	skin:	n/a
7	chr22:31475122-31475172	AG09319	gingival:	n/a
8	chr22:31475122-31475172	U87	brain:	n/a
9	chr22:31475122-31475172	SK-N-SH_RA	brain:	n/a
10	chr22:31475122-31475172	PrEC	prostate:	n/a
11	chr22:31475122-31475172	HEK293	kidney:	embryo
12	chr22:31475122-31475172	K562	blood:	n/a
13	chr22:31475122-31475172	SAEC	small airway:	n/a
14	chr22:31475122-31475172	Hela-S3	cervix:	n/a
15	chr22:31475122-31475172	HNPCEpiC	eye:	n/a
16	chr22:31475122-31475172	NT2-D1	testis:	n/a
17	chr22:31475122-31475172	Caco-2	colon:	n/a
18	chr22:31475122-31475172	HRE	kidney:	n/a
19	chr22:31475122-31475172	HCPEpiC	choroid plexus:	n/a
20	chr22:31475122-31475172	BJ	skin:	n/a
21	chr22:31475122-31475172	HCM	heart:	n/a
22	chr22:31475122-31475172	IMR90	lung:	fetal
23	chr22:31475122-31475172	H1-hESC	embryonic stem cell:	embryo
24	chr22:31475122-31475172	PANC-1	pancreas:	n/a
25	chr22:31475122-31475172	RPTEC	kidney:	n/a
26	chr22:31475122-31475172	ovcar-3	ovarian:	n/a
27	chr22:31475122-31475172	HCF	heart:	n/a
28	chr22:31475122-31475172	GM12891	blood:	n/a
29	chr22:31475122-31475172	HEEpiC	esophagus:	n/a
30	chr22:31475122-31475172	AoSMC	blood vessel:	n/a
31	chr22:31475122-31475172	AG04449	skin:	fetal
32	chr22:31475122-31475172	NHBE	bronchial:	n/a
33	chr22:31475122-31475172	GM12878	blood:	n/a
34	chr22:31475122-31475172	MCF-7	breast:	n/a
35	chr22:31475122-31475172	Jurkat	blood:	n/a
36	chr22:31475122-31475172	SKMC	muscle:	n/a
37	chr22:31475122-31475172	AG04450	lung:	fetal
38	chr22:31475122-31475172	SK-N-SH	brain:	n/a
39	chr22:31475122-31475172	HUVEC	blood vessel:	n/a
40	chr22:31475122-31475172	GM06990	blood:	n/a
41	chr22:31475122-31475172	HL-60	blood:	n/a
42	chr22:31475122-31475172	Hepatocyte	liver:	n/a
43	chr22:31475122-31475172	HPAEpiC	pulmonary alveolar:	n/a
44	chr22:31475122-31475172	HRCEpiC	kidney:	n/a
45	chr22:31475122-31475172	HCT-116	colon:	n/a
46	chr22:31475122-31475172	NH-A	brain:	n/a
47	chr22:31475122-31475172	GM12892	blood:	n/a
48	chr22:31475122-31475172	HepG2	liver:	n/a
49	chr22:31475122-31475172	MCF10A-Er-Src	breast:	n/a
50	chr22:31475122-31475172	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
2	chr22:31457775..31462699-chr22:31474304..31478789,5	MCF-7	breast:
3	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
4	chr22:31455769..31462183-chr22:31475245..31482356,13	K562	blood:
5	chr22:31360911..31371148-chr22:31475052..31483145,24	K562	blood:
6	chr22:31360045..31368675-chr22:31475412..31482694,29	K562	blood:
7	chr22:31475291..31477772-chr3:161087457..161089639,2	MCF-7	breast:
8	chr22:31475364..31478247-chr22:31499584..31502277,3	MCF-7	breast:

Variant related genes	Relation type
SMTN	TF binding region
SMTN	CpG island
ENSG00000253352	chromatin interactions
ENSG00000183963	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000133422	chromatin interactions
ENSG00000240186	chromatin interactions
ENSG00000198832	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5749212	chr22:31473892-31473893	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536180417	chr22:31473893-31473894	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs5021958	chr22:31473896-31473897	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs555816976	chr22:31473909-31473910	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs575880222	chr22:31473987-31473988	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs146046788	chr22:31473999-31474000	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs12158536	chr22:31474011-31474012	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576532885	chr22:31474018-31474019	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs62236123	chr22:31474019-31474020	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
10	rs150857671	chr22:31474042-31474043	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs572727940	chr22:31474053-31474054	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs541990754	chr22:31474058-31474059	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs62236124	chr22:31474089-31474090	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530829319	chr22:31474106-31474107	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs183920502	chr22:31474107-31474108	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs536100965	chr22:31474108-31474109	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs188656797	chr22:31474126-31474127	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs145373044	chr22:31474129-31474130	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs555479793	chr22:31474146-31474147	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs62236125	chr22:31474269-31474270	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs114060024	chr22:31474328-31474329	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs536092493	chr22:31474340-31474341	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs549546336	chr22:31474348-31474349	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs569499055	chr22:31474386-31474387	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs538484307	chr22:31474483-31474484	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs9609218	chr22:31474500-31474501	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs55830971	chr22:31474515-31474516	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12330058	chr22:31474554-31474555	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs62236126	chr22:31474598-31474599	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs10854603	chr22:31474657-31474658	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs180828347	chr22:31474664-31474665	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs541703433	chr22:31474688-31474689	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs186119307	chr22:31474717-31474718	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs573318430	chr22:31474741-31474742	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs189499413	chr22:31474775-31474776	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs544458142	chr22:31474791-31474792	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs369201475	chr22:31474841-31474842	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs372049316	chr22:31474842-31474843	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs561562826	chr22:31474843-31474844	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs35660737	chr22:31474865-31474866	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs556876356	chr22:31474868-31474869	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs372624726	chr22:31474873-31474874	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs564497121	chr22:31474899-31474900	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs181932912	chr22:31474919-31474920	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs148842586	chr22:31474930-31474931	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs547003822	chr22:31474965-31474966	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs560610951	chr22:31474975-31474976	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs116416395	chr22:31474982-31474983	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs549314979	chr22:31474997-31474998	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs535848940	chr22:31475040-31475041	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31465800-31475000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:31469800-31476400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr22:31469800-31476400	Weak transcription	HUVEC	blood vessel
4	chr22:31470200-31475000	Weak transcription	Spleen	Spleen
5	chr22:31471400-31476600	Weak transcription	Left Ventricle	heart
6	chr22:31472000-31476400	Weak transcription	HSMMtube	muscle
7	chr22:31472200-31474200	Weak transcription	Osteobl	bone
8	chr22:31472200-31475400	Weak transcription	Lung	lung
9	chr22:31472200-31476200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr22:31472200-31476400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr22:31472400-31474200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr22:31472400-31474200	Weak transcription	HSMM	muscle
13	chr22:31472400-31474200	Weak transcription	NHEK	skin
14	chr22:31472400-31474400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr22:31472400-31474400	Weak transcription	Stomach Mucosa	stomach
16	chr22:31472400-31475000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:31472400-31475000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr22:31472400-31475200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:31472400-31476400	Weak transcription	Ovary	ovary
20	chr22:31472400-31476600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:31472400-31476600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr22:31472400-31476600	Weak transcription	Psoas Muscle	Psoas
23	chr22:31472600-31474200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:31472600-31474200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr22:31472600-31474200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:31472600-31474200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr22:31472600-31474200	Weak transcription	Fetal Muscle Leg	muscle
28	chr22:31472600-31474200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr22:31472600-31475000	Weak transcription	Colonic Mucosa	Colon
30	chr22:31472600-31476200	Weak transcription	Fetal Lung	lung
31	chr22:31472600-31476400	Weak transcription	Adipose Nuclei	Adipose
32	chr22:31472600-31476400	Weak transcription	Right Ventricle	heart
33	chr22:31472600-31476400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr22:31472600-31476400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr22:31472600-31476400	Weak transcription	NHDF-Ad	bronchial
36	chr22:31472600-31476600	Weak transcription	Right Atrium	heart
37	chr22:31472600-31476600	Weak transcription	NHLF	lung
38	chr22:31473000-31474200	Weak transcription	Fetal Stomach	stomach
39	chr22:31473600-31474000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr22:31473600-31474000	Enhancers	Pancreas	Pancrea
41	chr22:31473600-31476400	Enhancers	Fetal Intestine Large	intestine
42	chr22:31473800-31474000	Enhancers	Esophagus	oesophagus
43	chr22:31473800-31474200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:31473800-31474600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr22:31473800-31475400	Enhancers	Placenta	Placenta
46	chr22:31473800-31476400	Enhancers	Fetal Intestine Small	intestine
47	chr22:31473800-31476400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr22:31474000-31474400	Weak transcription	Esophagus	oesophagus
49	chr22:31474000-31475000	Weak transcription	Pancreas	Pancrea
50	chr22:31474000-31475200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links