Variant report

Variant	esv3369197
Chromosome Location	chr21:44598383-44602181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44597167..44598866-chr21:44766112..44768773,2	MCF-7	breast:
2	chr21:44595798..44598770-chr21:45063265..45067849,4	MCF-7	breast:
3	chr21:44597096..44598685-chr21:44750362..44752904,2	MCF-7	breast:
4	chr21:44595703..44598660-chr21:45028207..45031192,2	MCF-7	breast:
5	chr21:44596302..44600320-chr21:44763162..44765941,4	MCF-7	breast:
6	chr21:44595975..44600241-chr21:44843202..44849395,11	MCF-7	breast:
7	chr21:44599423..44602035-chr21:44607332..44609772,2	MCF-7	breast:
8	chr21:44590676..44595436-chr21:44598084..44601687,4	K562	blood:
9	chr21:44602074..44605807-chr21:44607173..44611012,3	MCF-7	breast:
10	chr21:44601367..44602903-chr21:44845535..44847208,2	MCF-7	breast:
11	chr21:44598282..44598954-chr21:44689291..44689941,2	MCF-7	breast:
12	chr21:44588420..44591147-chr21:44596861..44598398,2	MCF-7	breast:
13	chr21:44595418..44598407-chr21:45007465..45009708,2	MCF-7	breast:
14	chr21:44598660..44599239-chr21:44846133..44847235,3	MCF-7	breast:
15	chr21:44595907..44598227-chr21:44599190..44600855,2	MCF-7	breast:
16	chr21:44595827..44599164-chr21:44845631..44847666,4	MCF-7	breast:
17	chr21:44597633..44599530-chr21:44922531..44924601,2	MCF-7	breast:
18	chr21:44601197..44603306-chr21:44842721..44844263,2	MCF-7	breast:
19	chr21:44597050..44598895-chr21:44866871..44869287,2	MCF-7	breast:
20	chr21:44601256..44604083-chr21:44761290..44763384,2	MCF-7	breast:
21	chr21:44596910..44599943-chr21:44921245..44924609,4	MCF-7	breast:
22	chr21:44588285..44592993-chr21:44594253..44598657,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237864	chromatin interactions
ENSG00000160202	chromatin interactions
ENSG00000142178	chromatin interactions

Extended variants
information (count: 202 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:202 , 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	rs555189673	chr21:44598419-44598420	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs370972888	chr21:44598435-44598436	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs373948115	chr21:44598436-44598437	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs184587215	chr21:44598441-44598442	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs552298044	chr21:44598452-44598453	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs376541400	chr21:44598470-44598471	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs546755894	chr21:44598480-44598481	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs562972417	chr21:44598491-44598492	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs9975271	chr21:44598497-44598498	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs146458986	chr21:44598554-44598555	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs113660516	chr21:44598561-44598562	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs2839640	chr21:44598568-44598569	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140969574	chr21:44598610-44598611	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs114388005	chr21:44598666-44598667	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs367592309	chr21:44598680-44598681	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs113525521	chr21:44598747-44598748	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189189116	chr21:44598754-44598755	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112704811	chr21:44598803-44598804	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11701225	chr21:44598827-44598828	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs193240187	chr21:44598848-44598849	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs138717373	chr21:44598869-44598870	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567042111	chr21:44598873-44598874	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs368444763	chr21:44598912-44598913	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558919479	chr21:44598947-44598948	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11203177	chr21:44598951-44598952	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs538403216	chr21:44598962-44598963	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs556530160	chr21:44599014-44599015	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559187255	chr21:44599026-44599027	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542467560	chr21:44599060-44599061	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs11910213	chr21:44599078-44599079	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11909888	chr21:44599081-44599082	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540409495	chr21:44599090-44599091	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558755065	chr21:44599100-44599101	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555747438	chr21:44599105-44599106	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564964045	chr21:44599118-44599119	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs577087787	chr21:44599121-44599122	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532626188	chr21:44599148-44599149	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544724560	chr21:44599160-44599161	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs75893044	chr21:44599189-44599190	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs11910132	chr21:44599209-44599210	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs34671650	chr21:44599228-44599229	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374664845	chr21:44599230-44599231	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567137381	chr21:44599248-44599249	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528003615	chr21:44599266-44599267	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552734458	chr21:44599273-44599274	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115673814	chr21:44599281-44599282	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs7276342	chr21:44599323-44599324	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs150384999	chr21:44599337-44599338	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7280964	chr21:44599357-44599358	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs535863471	chr21:44599395-44599396	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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 myeloid leukemia	20729466	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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44593800-44599000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr21:44593800-44599800	Enhancers	Placenta	Placenta
3	chr21:44593800-44601600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:44595600-44602400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr21:44596400-44599400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr21:44596400-44600400	Enhancers	Spleen	Spleen
7	chr21:44596600-44598400	Flanking Active TSS	Dnd41	blood
8	chr21:44596600-44599200	Enhancers	Left Ventricle	heart
9	chr21:44596600-44599400	Enhancers	NHLF	lung
10	chr21:44596600-44599600	Enhancers	NHEK	skin
11	chr21:44596600-44600800	Enhancers	Pancreas	Pancrea
12	chr21:44596600-44601600	Enhancers	HMEC	breast
13	chr21:44596800-44599200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:44596800-44602400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr21:44597000-44598600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr21:44597000-44598600	Enhancers	Gastric	stomach
17	chr21:44597000-44598800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:44597000-44599200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr21:44597000-44599400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:44597000-44600000	Enhancers	Lung	lung
21	chr21:44597000-44601800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:44597200-44598400	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr21:44597200-44598800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr21:44597200-44599000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr21:44597200-44599400	Flanking Active TSS	HepG2	liver
26	chr21:44597200-44599600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr21:44597200-44601400	Enhancers	Brain Germinal Matrix	brain
28	chr21:44597400-44598400	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr21:44597400-44598400	Enhancers	Liver	Liver
30	chr21:44597400-44598400	Enhancers	Brain Hippocampus Middle	brain
31	chr21:44597400-44599200	Enhancers	Right Atrium	heart
32	chr21:44597400-44599400	Enhancers	Fetal Intestine Small	intestine
33	chr21:44597400-44599400	Enhancers	HSMM	muscle
34	chr21:44597400-44599600	Enhancers	Fetal Stomach	stomach
35	chr21:44597400-44599600	Enhancers	NH-A	brain
36	chr21:44597400-44600200	Enhancers	Right Ventricle	heart
37	chr21:44597600-44598400	Enhancers	Colon Smooth Muscle	Colon
38	chr21:44597600-44598800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr21:44597600-44599000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr21:44597600-44599000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr21:44597600-44599200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr21:44597600-44599400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr21:44597600-44599600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr21:44597600-44599600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr21:44597600-44599800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr21:44597600-44601400	Enhancers	Fetal Brain Female	brain
47	chr21:44597600-44601600	Enhancers	Esophagus	oesophagus
48	chr21:44597800-44598400	Enhancers	Primary hematopoietic stem cells	blood
49	chr21:44597800-44598400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr21:44597800-44598600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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