Variant report

Variant	esv3374476
Chromosome Location	chr3:48612748-48617046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:48614997-48615064	GM19239	blood:	n/a	n/a
2	MAX	chr3:48614780-48615039	H1-hESC	embryonic stem cell:	n/a	chr3:48614999-48615009 chr3:48615025-48615035 chr3:48615000-48615011
3	MAX	chr3:48614670-48615129	NB4	blood:	n/a	chr3:48614999-48615009 chr3:48615025-48615035 chr3:48615000-48615011
4	MYC	chr3:48614702-48614969	A549	lung:	n/a	n/a
5	POLR2A	chr3:48614064-48614117	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr3:48614766-48614783	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr3:48615556-48615851	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr3:48612905-48615380	A549	lung:	n/a	n/a
9	POLR2A	chr3:48616892-48617177	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr3:48614662-48614740	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr3:48612515-48615333	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr3:48613426-48613721	K562	blood:	n/a	n/a
13	POLR2A	chr3:48610831-48613143	K562	blood:	n/a	n/a
14	POLR2A	chr3:48613663-48613825	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr3:48614428-48615065	U87	brain:	n/a	n/a
16	POLR2A	chr3:48614742-48614827	A549	lung:	n/a	n/a
17	POLR2A	chr3:48613798-48613802	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr3:48613570-48613636	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr3:48616201-48616697	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr3:48614660-48614830	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr3:48616287-48616612	A549	lung:	n/a	n/a
22	POLR2A	chr3:48614793-48614806	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr3:48616910-48616919	MCF-7	breast:	n/a	n/a
24	POLR2A	chr3:48613187-48613305	Hela-S3	cervix:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:48615932-48615982	ECC-1	luminal epithelium:	n/a
2	chr3:48616351-48616401	AG09309	skin:	n/a
3	chr3:48615932-48615982	HCPEpiC	choroid plexus:	n/a
4	chr3:48616534-48616584	HMEC	breast:	n/a
5	chr3:48616534-48616584	H1-hESC	embryonic stem cell:	embryo
6	chr3:48616534-48616584	ECC-1	luminal epithelium:	n/a
7	chr3:48616351-48616401	H1-hESC	embryonic stem cell:	embryo
8	chr3:48616351-48616401	IMR90	lung:	fetal
9	chr3:48616534-48616584	HPAEpiC	pulmonary alveolar:	n/a
10	chr3:48616534-48616584	AG04449	skin:	fetal
11	chr3:48616351-48616401	HIPEpiC	eye:	n/a
12	chr3:48616351-48616401	CMK	blood:	n/a
13	chr3:48615932-48615982	GM12891	blood:	n/a
14	chr3:48616534-48616584	LNCaP	prostate:	n/a
15	chr3:48615932-48615982	K562	blood:	n/a
16	chr3:48616351-48616401	HMEC	breast:	n/a
17	chr3:48616534-48616584	HL-60	blood:	n/a
18	chr3:48616534-48616584	K562	blood:	n/a
19	chr3:48616351-48616401	U87	brain:	n/a
20	chr3:48616351-48616401	NH-A	brain:	n/a
21	chr3:48616351-48616401	Hepatocyte	liver:	n/a
22	chr3:48616534-48616584	NT2-D1	testis:	n/a
23	chr3:48615932-48615982	SK-N-MC	brain:	n/a
24	chr3:48615932-48615982	IMR90	lung:	fetal
25	chr3:48616351-48616401	MCF-7	breast:	n/a
26	chr3:48616534-48616584	HRE	kidney:	n/a
27	chr3:48615932-48615982	CMK	blood:	n/a
28	chr3:48615932-48615982	HPAEpiC	pulmonary alveolar:	n/a
29	chr3:48616534-48616584	U87	brain:	n/a
30	chr3:48616534-48616584	MCF10A-Er-Src	breast:	n/a
31	chr3:48616534-48616584	AG09319	gingival:	n/a
32	chr3:48616534-48616584	HAEpiC	amniotic membrane:	n/a
33	chr3:48616534-48616584	T-47D	breast:	n/a
34	chr3:48615932-48615982	AoSMC	blood vessel:	n/a
35	chr3:48615932-48615982	A549	lung:	n/a
36	chr3:48615932-48615982	Hepatocyte	liver:	n/a
37	chr3:48616534-48616584	SK-N-SH	brain:	n/a
38	chr3:48615932-48615982	AG09319	gingival:	n/a
39	chr3:48616534-48616584	BE2_C	brain:	n/a
40	chr3:48616534-48616584	CMK	blood:	n/a
41	chr3:48616351-48616401	ovcar-3	ovarian:	n/a
42	chr3:48616351-48616401	BJ	skin:	n/a
43	chr3:48615932-48615982	BJ	skin:	n/a
44	chr3:48615932-48615982	AG09309	skin:	n/a
45	chr3:48616534-48616584	PANC-1	pancreas:	n/a
46	chr3:48616351-48616401	GM12878	blood:	n/a
47	chr3:48616351-48616401	SAEC	small airway:	n/a
48	chr3:48616534-48616584	SKMC	muscle:	n/a
49	chr3:48615932-48615982	HRE	kidney:	n/a
50	chr3:48616351-48616401	ProgFib	skin:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48603206..48606480-chr3:48608320..48612943,6	K562	blood:
2	chr3:48614996..48616945-chr3:48645477..48647232,2	K562	blood:
3	chr3:48611686..48613356-chr3:48621940..48623919,2	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-711	chr3:48616347-48616368	MIMAT0012734

No data

Variant related genes	Relation type
MIR711	TF binding region
COL7A1	TF binding region
MIR711	CpG island
COL7A1	CpG island
ENSG00000010256	chromatin interactions
ENSG00000114270	chromatin interactions

Extended variants
information (count: 247 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372162756	chr3:48612754-48612755	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs121912836	chr3:48612825-48612826	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs121912829	chr3:48612834-48612835	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs121912846	chr3:48612842-48612843	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs121912844	chr3:48612852-48612853	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs201150671	chr3:48612853-48612854	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs121912838	chr3:48612861-48612862	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs200360245	chr3:48612862-48612863	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs375047225	chr3:48612871-48612872	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs537763577	chr3:48612898-48612899	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs121912843	chr3:48612908-48612909	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs199603961	chr3:48612931-48612932	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs367583660	chr3:48612934-48612935	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs121912842	chr3:48612935-48612936	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs121912832	chr3:48612945-48612946	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs200826090	chr3:48612946-48612947	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs146901730	chr3:48612964-48612965	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs201814450	chr3:48613024-48613025	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375363281	chr3:48613027-48613028	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs144208360	chr3:48613082-48613083	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200551525	chr3:48613087-48613088	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs182669506	chr3:48613108-48613109	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs143307229	chr3:48613112-48613113	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs2229821	chr3:48613115-48613116	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs199967508	chr3:48613117-48613118	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs141290741	chr3:48613128-48613129	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs138208939	chr3:48613164-48613165	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs201825506	chr3:48613192-48613193	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs371555029	chr3:48613193-48613194	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs374728682	chr3:48613204-48613205	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs202076982	chr3:48613206-48613207	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs373295008	chr3:48613209-48613210	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs530472017	chr3:48613210-48613211	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs186847424	chr3:48613216-48613217	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs201188603	chr3:48613217-48613218	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs114506801	chr3:48613233-48613234	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs200198400	chr3:48613241-48613242	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs143368099	chr3:48613307-48613308	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs373567874	chr3:48613325-48613326	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs527416146	chr3:48613326-48613327	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs111775311	chr3:48613337-48613338	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs200159730	chr3:48613351-48613352	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs376620346	chr3:48613355-48613356	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs370710442	chr3:48613365-48613366	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs560756778	chr3:48613395-48613396	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs9881877	chr3:48613396-48613397	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549712143	chr3:48613399-48613400	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs374610883	chr3:48613400-48613401	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs529853479	chr3:48613416-48613417	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs2854406	chr3:48613419-48613420	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48596600-48626000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:48598600-48624000	Weak transcription	Aorta	Aorta
3	chr3:48598800-48615000	Weak transcription	Pancreas	Pancrea
4	chr3:48598800-48617200	Weak transcription	Brain Germinal Matrix	brain
5	chr3:48599000-48614800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:48599000-48623600	Weak transcription	Ovary	ovary
7	chr3:48599000-48632000	Weak transcription	Left Ventricle	heart
8	chr3:48599200-48616800	Weak transcription	Fetal Heart	heart
9	chr3:48599200-48630600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:48600600-48631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:48601000-48631000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:48601200-48616800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:48601400-48614400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:48601600-48631000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:48601800-48613400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:48601800-48613600	Weak transcription	Brain Anterior Caudate	brain
17	chr3:48601800-48614200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:48601800-48614600	Weak transcription	Brain Substantia Nigra	brain
19	chr3:48601800-48614800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:48601800-48617000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:48601800-48633000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:48602000-48614400	Weak transcription	Spleen	Spleen
23	chr3:48602000-48614600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:48602000-48619400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:48602000-48629400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:48602000-48633200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:48602200-48629400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:48602400-48621400	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:48603600-48613400	Weak transcription	Brain Angular Gyrus	brain
30	chr3:48603600-48630000	Strong transcription	Fetal Stomach	stomach
31	chr3:48603800-48613400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr3:48603800-48628800	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr3:48603800-48630600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr3:48603800-48631800	Weak transcription	Gastric	stomach
35	chr3:48604000-48614000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:48604000-48614600	Weak transcription	Osteobl	bone
37	chr3:48604000-48623800	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:48604000-48629400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:48604000-48631600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:48604000-48632000	Weak transcription	HSMMtube	muscle
41	chr3:48604200-48614600	Weak transcription	NHDF-Ad	bronchial
42	chr3:48604200-48621600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr3:48604400-48630000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:48604400-48631600	Weak transcription	HSMM	muscle
45	chr3:48604600-48630800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:48605000-48627400	Strong transcription	NHEK	skin
47	chr3:48606200-48627600	Strong transcription	HMEC	breast
48	chr3:48606600-48614600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:48606800-48627000	Strong transcription	A549	lung
50	chr3:48607400-48623800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links