Variant report

Variant	esv3420818
Chromosome Location	chr21:40575632-40576580
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	ARID3A	chr21:40576116-40576341	HepG2	liver:	n/a	n/a
2	CEBPB	chr21:40576184-40576426	IMR90	lung:	n/a	chr21:40576308-40576321 chr21:40576310-40576321 chr21:40576308-40576321 chr21:40576310-40576319 chr21:40576308-40576319 chr21:40576308-40576321
3	CEBPB	chr21:40576162-40576438	K562	blood:	n/a	chr21:40576308-40576321 chr21:40576310-40576321 chr21:40576308-40576321 chr21:40576310-40576319 chr21:40576308-40576319 chr21:40576308-40576321
4	CEBPB	chr21:40576168-40576446	HepG2	liver:	n/a	chr21:40576308-40576321 chr21:40576310-40576321 chr21:40576308-40576321 chr21:40576310-40576319 chr21:40576308-40576319 chr21:40576308-40576321
5	CEBPB	chr21:40576200-40576368	A549	lung:	n/a	chr21:40576308-40576321 chr21:40576310-40576321 chr21:40576308-40576321 chr21:40576310-40576319 chr21:40576308-40576319 chr21:40576308-40576321
6	CEBPB	chr21:40576151-40576427	MCF-7	breast:	n/a	chr21:40576308-40576321 chr21:40576310-40576321 chr21:40576308-40576321 chr21:40576310-40576319 chr21:40576308-40576319 chr21:40576308-40576321
7	CTCF	chr21:40576180-40576330	GM12872	blood:	n/a	n/a
8	CTCF	chr21:40576180-40576330	GM12864	blood:	n/a	n/a
9	CTCF	chr21:40576160-40576310	AG04450	lung:	n/a	n/a
10	CTCF	chr21:40576140-40576290	HPAF	blood vessel:	n/a	n/a
11	CTCF	chr21:40576160-40576310	GM12865	blood:	n/a	n/a
12	CTCF	chr21:40576200-40576350	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr21:40576160-40576310	HMEC	breast:	n/a	n/a
14	CTCF	chr21:40576160-40576310	HCT-116	colon:	n/a	n/a
15	CTCF	chr21:40576200-40576350	HPF	lung:	n/a	n/a
16	CTCF	chr21:40576160-40576310	AG04449	skin:	n/a	n/a
17	CTCF	chr21:40576100-40576250	HRE	kidney:	n/a	n/a
18	CTCF	chr21:40576480-40576630	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr21:40576180-40576330	HBMEC	blood vessel:	n/a	n/a
20	CTCF	chr21:40576160-40576310	HPF	lung:	n/a	n/a
21	CTCF	chr21:40576180-40576330	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr21:40576080-40576230	HAc	cerebellar:	n/a	n/a
23	CTCF	chr21:40576220-40576370	Caco-2	colon:	n/a	n/a
24	CTCF	chr21:40576140-40576290	HEK293	kidney:	n/a	n/a
25	CTCF	chr21:40576420-40576570	HCT-116	colon:	n/a	n/a
26	CTCF	chr21:40576053-40576462	A549	lung:	n/a	n/a
27	CTCF	chr21:40576080-40576230	GM12866	blood:	n/a	n/a
28	CTCF	chr21:40576120-40576270	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chr21:40576180-40576330	GM12865	blood:	n/a	n/a
30	CTCF	chr21:40576180-40576330	HA-sp	spinal cord:	n/a	n/a
31	CTCF	chr21:40576160-40576310	HCFaa	heart:	n/a	n/a
32	CTCF	chr21:40576160-40576310	GM12868	blood:	n/a	n/a
33	CTCF	chr21:40576180-40576330	RPTEC	kidney:	n/a	n/a
34	CTCF	chr21:40576142-40576374	IMR90	lung:	n/a	n/a
35	CTCF	chr21:40576220-40576370	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr21:40576140-40576290	HepG2	liver:	n/a	n/a
37	CTCF	chr21:40576240-40576390	HCM	heart:	n/a	n/a
38	CTCF	chr21:40576140-40576290	SAEC	small airway:	n/a	n/a
39	CTCF	chr21:40576140-40576290	HMF	breast:	n/a	n/a
40	CTCF	chr21:40576240-40576390	HVMF	connective:	n/a	n/a
41	CTCF	chr21:40576120-40576270	GM12874	blood:	n/a	n/a
42	CTCF	chr21:40576240-40576390	HMF	breast:	n/a	n/a
43	CTCF	chr21:40576140-40576290	BE2_C	brain:	n/a	n/a
44	CTCF	chr21:40576380-40576530	HAc	cerebellar:	n/a	n/a
45	CTCF	chr21:40576200-40576350	BJ	skin:	n/a	n/a
46	CTCF	chr21:40576220-40576370	GM12873	blood:	n/a	n/a
47	CTCF	chr21:40576160-40576310	HAc	cerebellar:	n/a	n/a
48	CTCF	chr21:40576160-40576310	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr21:40576080-40576230	HFF	foreskin:	n/a	n/a
50	CTCF	chr21:40576120-40576270	HCM	heart:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	21:40565363-40575691..21:40718004-40719183	GM12878	blood:
2	chr21:40574761..40577366-chr21:40579952..40583653,3	MCF-7	breast:
3	chr21:40552604..40556082-chr21:40575410..40578014,3	MCF-7	breast:
4	chr21:40575750..40576363-chr21:40760622..40761131,2	MCF-7	breast:
5	chr21:40576478..40578016-chr21:40635061..40637089,2	MCF-7	breast:
6	chr21:40574233..40577132-chr21:40589410..40591916,2	MCF-7	breast:
7	chr21:40551398..40560769-chr21:40565658..40576445,18	K562	blood:
8	chr21:40574695..40577813-chr21:40579621..40584653,4	K562	blood:
9	chr21:40572360..40573959-chr21:40574635..40576652,2	K562	blood:
10	chr21:40564573..40566805-chr21:40573736..40576146,2	K562	blood:

Variant related genes	Relation type
BRWD1	TF binding region
ENSG00000185658	chromatin interactions
ENSG00000183527	chromatin interactions
ENSG00000205581	chromatin interactions
ENSG00000237373	chromatin interactions
ENSG00000272991	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532710847	chr21:40575674-40575675	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs181527259	chr21:40575693-40575694	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs185907051	chr21:40575714-40575715	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs141348693	chr21:40575776-40575777	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs368748117	chr21:40575818-40575819	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs548328759	chr21:40575829-40575830	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs529544714	chr21:40575834-40575835	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs372791584	chr21:40575835-40575836	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs375083431	chr21:40575838-40575839	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs369187794	chr21:40575841-40575842	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs371180660	chr21:40575843-40575844	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs62222990	chr21:40575857-40575858	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs62222991	chr21:40575860-40575861	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs202133864	chr21:40575885-40575886	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs374365741	chr21:40575886-40575887	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs74195031	chr21:40575891-40575892	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs374998225	chr21:40575896-40575897	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs368997101	chr21:40575898-40575899	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs369129573	chr21:40575913-40575914	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs74201288	chr21:40575915-40575916	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs189887762	chr21:40575918-40575919	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs180884410	chr21:40575919-40575920	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs74211463	chr21:40575921-40575922	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs74192415	chr21:40575924-40575925	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs74208670	chr21:40575928-40575929	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs36127595	chr21:40575931-40575932	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs74212145	chr21:40575935-40575936	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs74216964	chr21:40575937-40575938	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs74200440	chr21:40575939-40575940	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs74208137	chr21:40575942-40575943	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs74211928	chr21:40575950-40575951	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs74187386	chr21:40575956-40575957	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs74219301	chr21:40575958-40575959	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs74192604	chr21:40575962-40575963	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs74192914	chr21:40575963-40575964	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs74209954	chr21:40575970-40575971	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs74213246	chr21:40575973-40575974	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs74186338	chr21:40575976-40575977	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs74205331	chr21:40575979-40575980	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs74206471	chr21:40575982-40575983	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs74217831	chr21:40575986-40575987	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs74212418	chr21:40575989-40575990	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs190985331	chr21:40575992-40575993	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs74185959	chr21:40575996-40575997	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs74197113	chr21:40576002-40576003	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs74186562	chr21:40576003-40576004	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs55817907	chr21:40576007-40576008	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs74204658	chr21:40576011-40576012	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs74206701	chr21:40576016-40576017	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs74201283	chr21:40576022-40576023	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40556200-40576600	Weak transcription	Esophagus	oesophagus
2	chr21:40556200-40576600	Weak transcription	Pancreas	Pancrea
3	chr21:40556200-40602600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:40556600-40576600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:40563000-40640600	Strong transcription	Placenta	Placenta
6	chr21:40563000-40643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr21:40563200-40581000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr21:40563400-40653400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr21:40563400-40660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:40563600-40588600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:40563600-40653600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr21:40564600-40612600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:40564800-40587800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:40565000-40581200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr21:40565000-40592600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr21:40565000-40654600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr21:40565200-40579000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr21:40565200-40653600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr21:40565400-40580800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr21:40565400-40604200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:40565400-40612600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr21:40565400-40653600	Strong transcription	Dnd41	blood
23	chr21:40565600-40585600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:40565600-40590200	Strong transcription	Liver	Liver
25	chr21:40565600-40615000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr21:40565800-40580600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr21:40565800-40581400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr21:40565800-40590600	Strong transcription	Fetal Thymus	thymus
29	chr21:40566000-40653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr21:40566200-40590600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr21:40566200-40590600	Strong transcription	Adipose Nuclei	Adipose
32	chr21:40566400-40580200	Strong transcription	K562	blood
33	chr21:40566400-40580800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr21:40566400-40613200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr21:40566600-40581200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr21:40567400-40585400	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr21:40567400-40592400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr21:40567600-40580600	Strong transcription	GM12878-XiMat	blood
39	chr21:40567600-40581000	Strong transcription	Primary T cells from cord blood	blood
40	chr21:40567600-40581200	Strong transcription	Fetal Muscle Leg	muscle
41	chr21:40567600-40583800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr21:40567600-40585000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr21:40568200-40581400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr21:40568200-40584600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr21:40568400-40578800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr21:40568400-40580600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr21:40569000-40581600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr21:40569200-40576400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr21:40569200-40578200	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr21:40569200-40580000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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