Variant report

Variant	esv1826063
Chromosome Location	chr21:47454316-47465205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:671)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr21:47464653-47464729	K562	blood:	n/a	n/a
2	CEBPB	chr21:47464685-47464932	IMR90	lung:	n/a	n/a
3	CEBPB	chr21:47464777-47464883	A549	lung:	n/a	n/a
4	CEBPB	chr21:47458811-47459259	IMR90	lung:	n/a	n/a
5	CHD2	chr21:47460628-47461088	K562	blood:	n/a	n/a
6	CHD2	chr21:47461294-47461390	K562	blood:	n/a	n/a
7	CTCF	chr21:47457222-47457303	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr21:47461837-47461922	GM10248	blood:	n/a	n/a
9	CTCF	chr21:47458840-47458990	HBMEC	blood vessel:	n/a	n/a
10	E2F6	chr21:47460582-47460949	K562	blood:	n/a	n/a
11	E2F6	chr21:47457557-47457762	K562	blood:	n/a	n/a
12	EGR1	chr21:47458423-47458652	K562	blood:	n/a	n/a
13	EGR1	chr21:47458787-47459137	K562	blood:	n/a	n/a
14	EGR1	chr21:47458813-47459200	K562	blood:	n/a	n/a
15	EP300	chr21:47461520-47461755	GM12878	blood:	n/a	n/a
16	EP300	chr21:47460740-47460943	GM12878	blood:	n/a	n/a
17	ETS1	chr21:47460644-47461010	GM12878	blood:	n/a	n/a
18	FOS	chr21:47459063-47459159	MCF10A-Er-Src	breast:	n/a	chr21:47459107-47459118
19	FOS	chr21:47458939-47459256	HUVEC	blood vessel:	n/a	chr21:47459107-47459118
20	FOSL2	chr21:47458794-47459348	SK-N-SH	brain:	n/a	n/a
21	FOSL2	chr21:47461471-47461862	HepG2	liver:	n/a	n/a
22	GABPA	chr21:47457096-47457406	H1-hESC	embryonic stem cell:	n/a	n/a
23	GABPA	chr21:47458719-47458951	H1-hESC	embryonic stem cell:	n/a	n/a
24	GTF2B	chr21:47460721-47461032	K562	blood:	n/a	n/a
25	HEY1	chr21:47460720-47461282	K562	blood:	n/a	n/a
26	HEY1	chr21:47461299-47461936	K562	blood:	n/a	chr21:47461405-47461414
27	HEY1	chr21:47460595-47461113	K562	blood:	n/a	n/a
28	HMGN3	chr21:47461193-47461379	K562	blood:	n/a	n/a
29	IRF1	chr21:47460697-47460923	K562	blood:	n/a	n/a
30	IRF4	chr21:47461514-47461846	GM12878	blood:	n/a	n/a
31	MAFK	chr21:47456890-47456901	HepG2	liver:	n/a	n/a
32	MAFK	chr21:47456832-47457060	IMR90	lung:	n/a	chr21:47456920-47456930 chr21:47456916-47456932 chr21:47456917-47456931 chr21:47456914-47456934
33	MAX	chr21:47457539-47457782	K562	blood:	n/a	n/a
34	MAX	chr21:47460868-47461577	K562	blood:	n/a	n/a
35	MAX	chr21:47460617-47460813	K562	blood:	n/a	n/a
36	MAX	chr21:47460475-47460823	K562	blood:	n/a	n/a
37	MAX	chr21:47460647-47461093	K562	blood:	n/a	n/a
38	MAX	chr21:47457138-47457908	K562	blood:	n/a	n/a
39	MAZ	chr21:47455541-47457914	IMR90	lung:	n/a	chr21:47456879-47456889
40	MAZ	chr21:47458687-47459459	IMR90	lung:	n/a	n/a
41	MAZ	chr21:47460621-47460783	K562	blood:	n/a	n/a
42	MYC	chr21:47460705-47461075	K562	blood:	n/a	n/a
43	MYC	chr21:47461505-47461622	H1-hESC	embryonic stem cell:	n/a	n/a
44	MYC	chr21:47457598-47457777	K562	blood:	n/a	n/a
45	MYC	chr21:47460644-47461166	K562	blood:	n/a	n/a
46	NR3C1	chr21:47461519-47461693	A549	lung:	n/a	n/a
47	PAX5	chr21:47461529-47461721	GM12878	blood:	n/a	n/a
48	PAX5	chr21:47461616-47461880	GM12878	blood:	n/a	n/a
49	PAX5	chr21:47461569-47461757	GM12878	blood:	n/a	n/a
50	PAX5	chr21:47461527-47461775	GM12878	blood:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47460364-47460414	GM19239	blood:	n/a
2	chr21:47458587-47458637	AG10803	skin:	n/a
3	chr21:47457375-47457425	SK-N-SH_RA	brain:	n/a
4	chr21:47457375-47457425	HUVEC	blood vessel:	n/a
5	chr21:47455779-47455829	AG10803	skin:	n/a
6	chr21:47455453-47455503	HEK293	kidney:	embryo
7	chr21:47457738-47457788	PFSK-1	brain:	n/a
8	chr21:47457188-47457238	HAEpiC	amniotic membrane:	n/a
9	chr21:47456446-47456496	HRCEpiC	kidney:	n/a
10	chr21:47456404-47456454	MCF-7	breast:	n/a
11	chr21:47457738-47457788	T-47D	breast:	n/a
12	chr21:47455779-47455829	SKMC	muscle:	n/a
13	chr21:47456315-47456365	MCF10A-Er-Src	breast:	n/a
14	chr21:47454892-47454942	Jurkat	blood:	n/a
15	chr21:47455453-47455503	MCF-7	breast:	n/a
16	chr21:47458587-47458637	ECC-1	luminal epithelium:	n/a
17	chr21:47454892-47454942	HRE	kidney:	n/a
18	chr21:47455779-47455829	GM12878	blood:	n/a
19	chr21:47457188-47457238	MCF10A-Er-Src	breast:	n/a
20	chr21:47457188-47457238	AG04449	skin:	fetal
21	chr21:47456446-47456496	IMR90	lung:	fetal
22	chr21:47456315-47456365	HIPEpiC	eye:	n/a
23	chr21:47458587-47458637	H1-hESC	embryonic stem cell:	embryo
24	chr21:47454892-47454942	Caco-2	colon:	n/a
25	chr21:47456404-47456454	GM12891	blood:	n/a
26	chr21:47456446-47456496	PANC-1	pancreas:	n/a
27	chr21:47456446-47456496	ovcar-3	ovarian:	n/a
28	chr21:47458587-47458637	ovcar-3	ovarian:	n/a
29	chr21:47457738-47457788	A549	lung:	n/a
30	chr21:47454892-47454942	GM19239	blood:	n/a
31	chr21:47460364-47460414	HAEpiC	amniotic membrane:	n/a
32	chr21:47454892-47454942	HUVEC	blood vessel:	n/a
33	chr21:47456404-47456454	BJ	skin:	n/a
34	chr21:47457375-47457425	HMEC	breast:	n/a
35	chr21:47460364-47460414	HCM	heart:	n/a
36	chr21:47456446-47456496	Jurkat	blood:	n/a
37	chr21:47456404-47456454	HUVEC	blood vessel:	n/a
38	chr21:47457375-47457425	SK-N-SH	brain:	n/a
39	chr21:47457738-47457788	IMR90	lung:	fetal
40	chr21:47457375-47457425	H1-hESC	embryonic stem cell:	embryo
41	chr21:47456446-47456496	HNPCEpiC	eye:	n/a
42	chr21:47457188-47457238	NHDF-neo	bronchial:	n/a
43	chr21:47457738-47457788	CMK	blood:	n/a
44	chr21:47455779-47455829	HPAEpiC	pulmonary alveolar:	n/a
45	chr21:47456404-47456454	BE2_C	brain:	n/a
46	chr21:47455779-47455829	AoSMC	blood vessel:	n/a
47	chr21:47456315-47456365	A549	lung:	n/a
48	chr21:47455453-47455503	HPAEpiC	pulmonary alveolar:	n/a
49	chr21:47456315-47456365	T-47D	breast:	n/a
50	chr21:47456404-47456454	HEEpiC	esophagus:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47464638..47466951-chr21:47467945..47470531,2	K562	blood:
2	chr21:47464638..47467897-chr21:47467945..47470124,3	K562	blood:
3	chr21:47460724..47462986-chr21:47480949..47482640,2	K562	blood:
4	chr21:47421697..47423323-chr21:47458853..47461069,2	MCF-7	breast:
5	chr21:47452473..47454142-chr21:47459376..47461918,2	K562	blood:
6	chr21:47459145..47461835-chr21:47471631..47473216,2	K562	blood:
7	chr21:47452931..47454985-chr21:47457105..47459208,2	K562	blood:
8	chr21:47401486..47403121-chr21:47460352..47462597,2	K562	blood:
9	chr21:47439436..47442196-chr21:47457727..47460452,2	MCF-7	breast:
10	chr21:47444128..47447153-chr21:47459721..47462680,3	K562	blood:
11	chr21:47452931..47454985-chr21:47457105..47459208,2	K562	blood:
12	chr21:47459712..47462417-chr21:47469068..47471117,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224413	TF binding region
ENSG00000224413	CpG island
ENSG00000142156	chromatin interactions
ENSG00000228235	chromatin interactions

Extended variants
information (count: 608 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:608 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75130188	chr21:47454321-47454322	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs79847470	chr21:47454322-47454323	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs77979469	chr21:47454323-47454324	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs76200822	chr21:47454324-47454325	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs112788406	chr21:47454327-47454328	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs76504526	chr21:47454333-47454334	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs78658908	chr21:47454336-47454337	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs75606480	chr21:47454341-47454342	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs79188080	chr21:47454359-47454360	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs565324327	chr21:47454395-47454396	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs532833664	chr21:47454396-47454397	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs71324478	chr21:47454397-47454398	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs71324479	chr21:47454415-47454416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113364700	chr21:47454439-47454440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71319713	chr21:47454469-47454470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28564798	chr21:47454471-47454472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71319711	chr21:47454489-47454490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111625947	chr21:47454495-47454496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28715634	chr21:47454501-47454502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs71319709	chr21:47454504-47454505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28400438	chr21:47454509-47454510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112128905	chr21:47454527-47454528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76347870	chr21:47454545-47454546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369386410	chr21:47454546-47454547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28542578	chr21:47454547-47454548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373510755	chr21:47454555-47454556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567900697	chr21:47454557-47454558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79605029	chr21:47454581-47454582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111515869	chr21:47454583-47454584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113629448	chr21:47454584-47454585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201126559	chr21:47454600-47454601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74853043	chr21:47454601-47454602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74404610	chr21:47454603-47454604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78002520	chr21:47454607-47454608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56207127	chr21:47454624-47454625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75153922	chr21:47454637-47454638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112074667	chr21:47454663-47454664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111617108	chr21:47454669-47454670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111404851	chr21:47454695-47454696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113944358	chr21:47454719-47454720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74539958	chr21:47454725-47454726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569549958	chr21:47454771-47454772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185618164	chr21:47454789-47454790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373144100	chr21:47454807-47454808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566407182	chr21:47454827-47454828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533682445	chr21:47454831-47454832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558128136	chr21:47454835-47454836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113828831	chr21:47454837-47454838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576463104	chr21:47454846-47454847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76389305	chr21:47454863-47454864	Weak transcription	n/a	n/a	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:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47445600-47458600	Weak transcription	Stomach Mucosa	stomach
2	chr21:47448400-47455400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr21:47449400-47455400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr21:47449400-47458400	Weak transcription	Right Atrium	heart
5	chr21:47449600-47455600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr21:47451800-47455600	Weak transcription	Left Ventricle	heart
7	chr21:47451800-47458000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:47453200-47454400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:47454000-47454400	Flanking Active TSS	HepG2	liver
10	chr21:47454000-47455400	Weak transcription	Fetal Intestine Large	intestine
11	chr21:47454000-47455400	Weak transcription	Placenta	Placenta
12	chr21:47454000-47455600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:47454000-47455600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:47454200-47455400	Weak transcription	Fetal Lung	lung
15	chr21:47454200-47455400	Weak transcription	Fetal Stomach	stomach
16	chr21:47454200-47455400	Weak transcription	Ovary	ovary
17	chr21:47454200-47455400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr21:47454200-47455400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr21:47454400-47454600	Enhancers	HepG2	liver
20	chr21:47454400-47455600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr21:47454600-47455000	Weak transcription	HepG2	liver
22	chr21:47455000-47455400	Enhancers	HepG2	liver
23	chr21:47455400-47455600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr21:47455400-47455600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr21:47455400-47455600	Enhancers	Fetal Muscle Trunk	muscle
26	chr21:47455400-47455600	Flanking Active TSS	HepG2	liver
27	chr21:47455400-47456200	Enhancers	Rectal Smooth Muscle	rectum
28	chr21:47455400-47456200	Enhancers	Stomach Smooth Muscle	stomach
29	chr21:47455400-47457000	Enhancers	Fetal Intestine Large	intestine
30	chr21:47455400-47457200	Enhancers	Ovary	ovary
31	chr21:47455400-47457800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr21:47455400-47457800	Enhancers	Fetal Lung	lung
33	chr21:47455400-47458000	Enhancers	Fetal Stomach	stomach
34	chr21:47455400-47459200	Enhancers	Placenta	Placenta
35	chr21:47455600-47455800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr21:47455600-47455800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr21:47455600-47456000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr21:47455600-47456000	Enhancers	Left Ventricle	heart
39	chr21:47455600-47456000	Enhancers	HepG2	liver
40	chr21:47455600-47456200	Enhancers	Spleen	Spleen
41	chr21:47455600-47456400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr21:47455600-47456800	Enhancers	Colonic Mucosa	Colon
43	chr21:47455600-47457000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr21:47455600-47457400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr21:47455600-47457400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr21:47455600-47457400	Enhancers	Fetal Intestine Small	intestine
47	chr21:47455600-47458000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr21:47455600-47458400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr21:47455600-47458800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr21:47455600-47459200	Enhancers	Right Ventricle	heart

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