Variant report

Variant	esv3438685
Chromosome Location	chr21:47163624-47168822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:226)
CpG islands
(count:244)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:226 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr21:47165800-47166974	GM12878	blood:	n/a	n/a
2	BCL3	chr21:47166463-47166666	GM12878	blood:	n/a	n/a
3	BCL3	chr21:47165600-47166169	GM12878	blood:	n/a	n/a
4	BCL3	chr21:47166740-47167053	GM12878	blood:	n/a	n/a
5	BCL3	chr21:47166470-47166660	GM12878	blood:	n/a	n/a
6	BCL3	chr21:47165608-47166182	GM12878	blood:	n/a	n/a
7	CEBPB	chr21:47167749-47168037	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr21:47167819-47167992	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr21:47167740-47167890	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr21:47166871-47166899	MCF-7	breast:	n/a	n/a
11	CTCF	chr21:47166187-47166293	GM13976	blood:	n/a	n/a
12	CTCF	chr21:47167005-47167044	LNCaP	prostate:	n/a	n/a
13	CTCF	chr21:47165732-47166014	GM19239	blood:	n/a	n/a
14	CTCF	chr21:47167760-47167910	AG09319	gingival:	n/a	n/a
15	CTCF	chr21:47167880-47168030	NHEK	skin:	n/a	n/a
16	CTCF	chr21:47167760-47167910	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr21:47166832-47166902	MCF-7	breast:	n/a	n/a
18	CTCF	chr21:47166197-47166305	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr21:47165748-47165955	GM12892	blood:	n/a	n/a
20	CTCF	chr21:47167660-47167810	NHEK	skin:	n/a	n/a
21	CTCF	chr21:47165718-47166018	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr21:47165741-47165963	MCF-7	breast:	n/a	n/a
23	CTCF	chr21:47167764-47167968	NHEK	skin:	n/a	n/a
24	CTCF	chr21:47167780-47167930	MCF-7	breast:	n/a	n/a
25	CTCF	chr21:47167740-47167890	HMEC	breast:	n/a	n/a
26	CTCF	chr21:47167720-47167870	MCF-7	breast:	n/a	n/a
27	CTCF	chr21:47165656-47165921	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr21:47165807-47165825	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr21:47167833-47167918	MCF-7	breast:	n/a	n/a
30	CTCF	chr21:47167812-47167929	MCF-7	breast:	n/a	n/a
31	CTCF	chr21:47167816-47167932	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr21:47167720-47167870	HAc	cerebellar:	n/a	n/a
33	CTCF	chr21:47165784-47165886	GM13976	blood:	n/a	n/a
34	CTCF	chr21:47165761-47165924	MCF-7	breast:	n/a	n/a
35	CTCF	chr21:47166200-47166300	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr21:47167740-47167890	HPF	lung:	n/a	n/a
37	CTCF	chr21:47167720-47167870	AG10803	skin:	n/a	n/a
38	CTCF	chr21:47165680-47165830	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr21:47167740-47167890	HEK293	kidney:	n/a	n/a
40	CTCF	chr21:47167760-47167910	HMF	breast:	n/a	n/a
41	CTCF	chr21:47167740-47167890	BJ	skin:	n/a	n/a
42	CTCF	chr21:47165771-47165913	A549	lung:	n/a	n/a
43	CTCF	chr21:47165802-47165868	K562	blood:	n/a	n/a
44	CTCF	chr21:47165844-47165881	GM19238	blood:	n/a	n/a
45	CTCF	chr21:47167760-47167910	HCT-116	colon:	n/a	n/a
46	CTCF	chr21:47167820-47167970	HRE	kidney:	n/a	n/a
47	CTCF	chr21:47167700-47167850	AG10803	skin:	n/a	n/a
48	CTCF	chr21:47166047-47166054	MCF-7	breast:	n/a	n/a
49	CTCF	chr21:47165808-47165913	LNCaP	prostate:	n/a	n/a
50	CTCF	chr21:47165731-47166079	MCF-7	breast:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47165787-47165837	ProgFib	skin:	n/a
2	chr21:47166624-47166674	SK-N-SH_RA	brain:	n/a
3	chr21:47166624-47166674	AG09319	gingival:	n/a
4	chr21:47165437-47165487	HNPCEpiC	eye:	n/a
5	chr21:47165437-47165487	PANC-1	pancreas:	n/a
6	chr21:47167601-47167651	CMK	blood:	n/a
7	chr21:47166624-47166674	AG10803	skin:	n/a
8	chr21:47167601-47167651	HRPEpiC	eye:	n/a
9	chr21:47165787-47165837	PFSK-1	brain:	n/a
10	chr21:47166624-47166674	SK-N-MC	brain:	n/a
11	chr21:47165787-47165837	HEK293	kidney:	embryo
12	chr21:47165437-47165487	AG09319	gingival:	n/a
13	chr21:47165437-47165487	HCT-116	colon:	n/a
14	chr21:47165787-47165837	SKMC	muscle:	n/a
15	chr21:47165787-47165837	AG09319	gingival:	n/a
16	chr21:47165437-47165487	HepG2	liver:	n/a
17	chr21:47167601-47167651	K562	blood:	n/a
18	chr21:47166624-47166674	NH-A	brain:	n/a
19	chr21:47165787-47165837	U87	brain:	n/a
20	chr21:47165787-47165837	HMEC	breast:	n/a
21	chr21:47165437-47165487	HEK293	kidney:	embryo
22	chr21:47165437-47165487	IMR90	lung:	fetal
23	chr21:47166624-47166674	SAEC	small airway:	n/a
24	chr21:47165437-47165487	MCF-7	breast:	n/a
25	chr21:47165437-47165487	CMK	blood:	n/a
26	chr21:47166624-47166674	NT2-D1	testis:	n/a
27	chr21:47166624-47166674	HEEpiC	esophagus:	n/a
28	chr21:47166624-47166674	NHBE	bronchial:	n/a
29	chr21:47165787-47165837	PrEC	prostate:	n/a
30	chr21:47165787-47165837	BE2_C	brain:	n/a
31	chr21:47166624-47166674	HAEpiC	amniotic membrane:	n/a
32	chr21:47167601-47167651	AG09309	skin:	n/a
33	chr21:47165787-47165837	T-47D	breast:	n/a
34	chr21:47165787-47165837	AG09309	skin:	n/a
35	chr21:47166624-47166674	HIPEpiC	eye:	n/a
36	chr21:47165787-47165837	NHDF-neo	bronchial:	n/a
37	chr21:47165787-47165837	HRPEpiC	eye:	n/a
38	chr21:47166624-47166674	GM06990	blood:	n/a
39	chr21:47166624-47166674	HRPEpiC	eye:	n/a
40	chr21:47165787-47165837	HL-60	blood:	n/a
41	chr21:47165787-47165837	AG04449	skin:	fetal
42	chr21:47166624-47166674	GM12892	blood:	n/a
43	chr21:47167601-47167651	RPTEC	kidney:	n/a
44	chr21:47165787-47165837	SK-N-SH_RA	brain:	n/a
45	chr21:47166624-47166674	HRE	kidney:	n/a
46	chr21:47167601-47167651	SK-N-SH	brain:	n/a
47	chr21:47165787-47165837	HCT-116	colon:	n/a
48	chr21:47166624-47166674	LNCaP	prostate:	n/a
49	chr21:47167601-47167651	T-47D	breast:	n/a
50	chr21:47165437-47165487	GM19239	blood:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47163262..47166071-chr21:47166179..47167744,2	MCF-7	breast:
2	chr21:47155045..47157882-chr21:47165789..47168073,2	MCF-7	breast:
3	chr21:47163262..47166071-chr21:47166179..47167744,2	MCF-7	breast:
4	chr21:47158414..47160946-chr21:47163117..47165141,2	MCF-7	breast:
5	chr21:47161212..47163794-chr21:47166078..47168615,2	MCF-7	breast:
6	chr21:47061926..47064777-chr21:47168199..47170677,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL6A1-3	chr21:47167898-47168053	NONHSAT082986
2	lnc-COL6A1-3	chr21:47164145-47164251	NONHSAT082983

No data

Variant related genes	Relation type
PCBP3	TF binding region
PCBP3	CpG island
ENSG00000183570	chromatin interactions

Extended variants
information (count: 266 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114652142	chr21:47163641-47163642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547749025	chr21:47163709-47163710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142847879	chr21:47163766-47163767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200050573	chr21:47163797-47163798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539537190	chr21:47163818-47163819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567475815	chr21:47163828-47163829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187193504	chr21:47163841-47163842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17004800	chr21:47163882-47163883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550866742	chr21:47163890-47163891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151096155	chr21:47163909-47163910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141026793	chr21:47163919-47163920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372242677	chr21:47163923-47163924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112799974	chr21:47163964-47163965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200472130	chr21:47163970-47163971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs36076219	chr21:47164032-47164033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377222055	chr21:47164033-47164034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182642279	chr21:47164034-47164035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71738675	chr21:47164036-47164037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397730251	chr21:47164046-47164047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141130711	chr21:47164047-47164048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186781164	chr21:47164103-47164104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545712371	chr21:47164112-47164113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57434582	chr21:47164154-47164155	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs545130710	chr21:47164167-47164168	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs191203406	chr21:47164185-47164186	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs368501363	chr21:47164203-47164204	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs530742496	chr21:47164227-47164228	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs577754871	chr21:47164235-47164236	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs561055157	chr21:47164252-47164253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548555801	chr21:47164298-47164299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570283594	chr21:47164300-47164301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368349888	chr21:47164320-47164321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543495027	chr21:47164353-47164354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182669482	chr21:47164372-47164373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563392945	chr21:47164389-47164390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370302534	chr21:47164398-47164399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150240604	chr21:47164403-47164404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551469557	chr21:47164404-47164405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186852780	chr21:47164405-47164406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539251046	chr21:47164457-47164458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569778790	chr21:47164464-47164465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532578054	chr21:47164491-47164492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537267617	chr21:47164593-47164594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555905009	chr21:47164616-47164617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192904038	chr21:47164796-47164797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117953000	chr21:47164799-47164800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73232744	chr21:47164827-47164828	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs577724438	chr21:47164831-47164832	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs78129080	chr21:47165051-47165052	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs386819364	chr21:47165105-47165106	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	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 adenocarcinoma	17086460	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

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47135600-47165000	Weak transcription	Primary T cells from cord blood	blood
2	chr21:47144200-47167600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:47151800-47164800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr21:47153200-47165400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:47156600-47168000	Weak transcription	Brain Angular Gyrus	brain
6	chr21:47156800-47164800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr21:47157000-47168200	Weak transcription	Brain Hippocampus Middle	brain
8	chr21:47157600-47165000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:47157800-47167400	Weak transcription	HSMMtube	muscle
10	chr21:47158000-47165400	Weak transcription	Dnd41	blood
11	chr21:47158800-47169800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr21:47159000-47168000	Weak transcription	Brain Anterior Caudate	brain
13	chr21:47160000-47164800	Weak transcription	Thymus	Thymus
14	chr21:47160200-47164200	Weak transcription	Fetal Thymus	thymus
15	chr21:47160600-47165600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:47160600-47165600	Weak transcription	Gastric	stomach
17	chr21:47160800-47165800	Weak transcription	Adipose Nuclei	Adipose
18	chr21:47161200-47165000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr21:47161400-47164800	Weak transcription	Spleen	Spleen
20	chr21:47161400-47165400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:47161400-47165400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:47161400-47165600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr21:47162000-47164600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:47162400-47167200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr21:47162400-47167200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr21:47162400-47167600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr21:47163000-47165400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr21:47163000-47167400	Weak transcription	NHDF-Ad	bronchial
29	chr21:47164000-47165200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr21:47164200-47165400	Strong transcription	Fetal Thymus	thymus
31	chr21:47164200-47167400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr21:47164400-47165800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr21:47164600-47166200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr21:47164600-47168000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr21:47164800-47165200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr21:47164800-47165400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr21:47164800-47165600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr21:47164800-47165800	Enhancers	Fetal Stomach	stomach
39	chr21:47164800-47165800	Strong transcription	Spleen	Spleen
40	chr21:47164800-47166200	ZNF genes & repeats	Thymus	Thymus
41	chr21:47165000-47166200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr21:47165000-47166200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr21:47165000-47169000	Strong transcription	Primary T cells from cord blood	blood
44	chr21:47165200-47165600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
45	chr21:47165200-47166000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
46	chr21:47165400-47165800	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr21:47165400-47165800	ZNF genes & repeats	Fetal Thymus	thymus
48	chr21:47165400-47166000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr21:47165400-47166000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr21:47165400-47166000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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