Variant report

Variant	esv3323927
Chromosome Location	chr21:46295348-46295944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr21:46295482-46295673	K562	blood:	n/a	n/a
2	BHLHE40	chr21:46294887-46295533	GM12878	blood:	n/a	n/a
3	CHD1	chr21:46294887-46295832	GM12878	blood:	n/a	n/a
4	CHD2	chr21:46294996-46295506	GM12878	blood:	n/a	n/a
5	CTCF	chr21:46295162-46295718	MCF-7	breast:	n/a	n/a
6	CTCF	chr21:46295340-46295630	HPF	lung:	n/a	n/a
7	CTCF	chr21:46295420-46295570	HCFaa	heart:	n/a	n/a
8	CTCF	chr21:46295360-46295510	HVMF	connective:	n/a	n/a
9	CTCF	chr21:46295400-46295550	HEEpiC	esophagus:	n/a	n/a
10	CTCF	chr21:46295296-46295600	T-47D	breast:	n/a	n/a
11	CTCF	chr21:46295340-46295490	HVMF	connective:	n/a	n/a
12	CTCF	chr21:46295420-46295522	NHEK	skin:	n/a	n/a
13	CTCF	chr21:46295471-46295560	Lung_OC	lung:	n/a	n/a
14	CTCF	chr21:46295420-46295570	MCF-7	breast:	n/a	n/a
15	CTCF	chr21:46295386-46295602	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr21:46295360-46295510	HFF	foreskin:	n/a	n/a
17	CTCF	chr21:46295360-46295510	HCM	heart:	n/a	n/a
18	CTCF	chr21:46295440-46295590	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr21:46295280-46295430	HCM	heart:	n/a	n/a
20	CTCF	chr21:46295400-46295550	BJ	skin:	n/a	n/a
21	CTCF	chr21:46295460-46295610	BE2_C	brain:	n/a	n/a
22	CTCF	chr21:46295360-46295510	AG10803	skin:	n/a	n/a
23	CTCF	chr21:46295440-46295590	Caco-2	colon:	n/a	n/a
24	CTCF	chr21:46295308-46295673	K562	blood:	n/a	n/a
25	CTCF	chr21:46295380-46295530	NHEK	skin:	n/a	n/a
26	CTCF	chr21:46295420-46295570	AG09309	skin:	n/a	n/a
27	CTCF	chr21:46295444-46295552	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chr21:46295460-46295610	AG10803	skin:	n/a	n/a
29	CTCF	chr21:46295441-46295586	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr21:46295380-46295530	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr21:46295200-46295350	NHEK	skin:	n/a	n/a
32	CTCF	chr21:46295451-46295542	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr21:46295373-46295573	HepG2	liver:	n/a	n/a
34	CTCF	chr21:46295420-46295570	HMEC	breast:	n/a	n/a
35	CTCF	chr21:46295280-46295430	HFF-Myc	foreskin:	n/a	n/a
36	CTCF	chr21:46295437-46295514	Fibrobl	skin:	n/a	n/a
37	CTCF	chr21:46295428-46295537	GM10248	blood:	n/a	n/a
38	CTCF	chr21:46295360-46295510	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr21:46295380-46295614	MCF-7	breast:	n/a	n/a
40	CTCF	chr21:46295320-46295470	RPTEC	kidney:	n/a	n/a
41	CTCF	chr21:46295374-46295547	A549	lung:	n/a	n/a
42	CTCF	chr21:46295500-46295650	HRE	kidney:	n/a	n/a
43	CTCF	chr21:46295400-46295550	AG09309	skin:	n/a	n/a
44	CTCF	chr21:46295432-46295590	LNCaP	prostate:	n/a	n/a
45	CTCF	chr21:46295424-46295576	MCF-7	breast:	n/a	n/a
46	CTCF	chr21:46295400-46295550	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr21:46295460-46295610	GM12872	blood:	n/a	n/a
48	CTCF	chr21:46295488-46295506	ProgFib	skin:	n/a	n/a
49	CTCF	chr21:46295460-46295610	SAEC	small airway:	n/a	n/a
50	CTCF	chr21:46295420-46295578	GM12878	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46231216..46239677-chr21:46289090..46295542,14	K562	blood:
2	chr21:46293215..46295653-chr21:46346335..46349274,2	K562	blood:
3	chr21:46295409..46298827-chr21:46311338..46314521,3	K562	blood:
4	chr21:46288744..46296879-chr21:46346201..46354260,26	MCF-7	breast:
5	chr21:46220083..46220610-chr21:46295309..46295835,2	MCF-7	breast:
6	chr21:46294976..46295889-chr8:63408636..63409252,2	MCF-7	breast:
7	chr21:46271436..46274134-chr21:46295574..46298347,2	K562	blood:
8	chr21:46229150..46231758-chr21:46294546..46297296,2	MCF-7	breast:
9	chr21:46292072..46295985-chr21:46328607..46334685,5	MCF-7	breast:
10	chr21:46218558..46223428-chr21:46289542..46296056,15	MCF-7	breast:
11	chr21:46294020..46295642-chr21:47310587..47313582,2	K562	blood:
12	chr21:46231789..46243695-chr21:46286819..46295664,23	MCF-7	breast:
13	chr21:46191657..46194151-chr21:46295408..46297409,2	MCF-7	breast:
14	chr21:46292609..46295460-chr21:46295899..46299289,8	K562	blood:
15	chr21:46232702..46239829-chr21:46289967..46296620,21	MCF-7	breast:
16	chr21:46235517..46239255-chr21:46289829..46295572,6	K562	blood:
17	chr21:46217105..46224485-chr21:46287607..46297526,26	MCF-7	breast:
18	chr21:46234037..46237833-chr21:46295592..46298389,4	K562	blood:
19	chr21:46231802..46234012-chr21:46295564..46298055,2	K562	blood:
20	chr21:46291916..46297365-chr21:46358001..46363812,14	MCF-7	breast:
21	chr21:46265590..46266360-chr21:46294954..46295944,5	MCF-7	breast:

No data

Variant related genes	Relation type
PTTG1IP	TF binding region
ENSG00000184787	chromatin interactions
ENSG00000273027	chromatin interactions
ENSG00000160255	chromatin interactions
ENSG00000160256	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000183250	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000183255	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77590565	chr21:46295350-46295351	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	mRNA abundance
2	rs199635185	chr21:46295382-46295383	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs535132429	chr21:46295385-46295386	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs200572292	chr21:46295458-46295459	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs550028989	chr21:46295469-46295470	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs183852673	chr21:46295549-46295550	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs146728322	chr21:46295564-46295565	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs235298	chr21:46295587-46295588	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558194110	chr21:46295621-46295622	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs576670668	chr21:46295649-46295650	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs543694254	chr21:46295664-46295665	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs180314	chr21:46295667-46295668	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs200918083	chr21:46295675-46295676	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs201666398	chr21:46295676-46295677	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs368202127	chr21:46295729-46295730	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs75912675	chr21:46295752-46295753	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs559797612	chr21:46295773-46295774	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs139360262	chr21:46295776-46295777	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs144162932	chr21:46295778-46295779	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs564267517	chr21:46295780-46295781	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs531594901	chr21:46295788-46295789	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs199589399	chr21:46295793-46295794	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs549714922	chr21:46295805-46295806	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs567886656	chr21:46295835-46295836	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs528972274	chr21:46295846-46295847	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs547124800	chr21:46295854-46295855	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs144695773	chr21:46295875-46295876	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs565414001	chr21:46295888-46295889	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs3810586	chr21:46295900-46295901	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs556333284	chr21:46295908-46295909	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46289800-46296000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr21:46291800-46295400	Active TSS	Psoas Muscle	Psoas
3	chr21:46292200-46295400	Active TSS	Right Atrium	heart
4	chr21:46292600-46295400	Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr21:46292800-46295400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr21:46292800-46295400	Active TSS	Right Ventricle	heart
7	chr21:46293800-46295400	Flanking Active TSS	HMEC	breast
8	chr21:46294000-46295400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:46294000-46295400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr21:46294000-46295400	Flanking Active TSS	HepG2	liver
11	chr21:46294000-46295400	Flanking Active TSS	K562	blood
12	chr21:46294000-46295400	Flanking Active TSS	NH-A	brain
13	chr21:46294000-46295400	Flanking Active TSS	NHEK	skin
14	chr21:46294000-46295600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr21:46294000-46295600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr21:46294000-46295600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:46294000-46295600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr21:46294000-46295600	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr21:46294000-46295600	Flanking Active TSS	Fetal Thymus	thymus
20	chr21:46294000-46295600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr21:46294000-46295600	Flanking Bivalent TSS/Enh	Dnd41	blood
22	chr21:46294000-46295600	Flanking Active TSS	HUVEC	blood vessel
23	chr21:46294000-46295800	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr21:46294000-46295800	Flanking Active TSS	Liver	Liver
25	chr21:46294000-46296000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr21:46294000-46296000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr21:46294000-46296000	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr21:46294000-46296000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr21:46294000-46296000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr21:46294000-46296000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr21:46294000-46296000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr21:46294200-46295400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr21:46294200-46295400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr21:46294200-46295400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr21:46294200-46295400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr21:46294200-46295400	Flanking Active TSS	Placenta	Placenta
37	chr21:46294200-46295400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr21:46294200-46295600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr21:46294200-46295600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr21:46294200-46295600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr21:46294200-46295600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr21:46294200-46295600	Flanking Active TSS	Osteobl	bone
43	chr21:46294200-46295800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr21:46294200-46296000	Enhancers	Fetal Heart	heart
45	chr21:46294400-46295400	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr21:46294400-46295400	Active TSS	Thymus	Thymus
47	chr21:46294400-46295600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr21:46294400-46295600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr21:46294400-46296000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr21:46294400-46298600	Weak transcription	Small Intestine	intestine

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