Variant report

Variant	nsv187134
Chromosome Location	chr21:47648730-47648738
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	ATF3	chr21:47648698-47648964	K562	blood:	n/a	n/a
2	BACH1	chr21:47648024-47649318	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr21:47648517-47648731	HepG2	liver:	n/a	n/a
4	BHLHE40	chr21:47648289-47648810	A549	lung:	n/a	n/a
5	BHLHE40	chr21:47647771-47649855	K562	blood:	n/a	chr21:47649373-47649389
6	BHLHE40	chr21:47647803-47649349	GM12878	blood:	n/a	n/a
7	BHLHE40	chr21:47648132-47649465	HepG2	liver:	n/a	chr21:47649373-47649389
8	CCNT2	chr21:47647768-47649855	K562	blood:	n/a	chr21:47649333-47649342 chr21:47649327-47649336
9	CEBPD	chr21:47648425-47648990	HepG2	liver:	n/a	n/a
10	CHD2	chr21:47648278-47649378	GM12878	blood:	n/a	chr21:47648960-47648970
11	CHD2	chr21:47648427-47649546	HepG2	liver:	n/a	chr21:47648960-47648970
12	CHD2	chr21:47648518-47649717	H1-hESC	embryonic stem cell:	n/a	chr21:47648960-47648970
13	CHD2	chr21:47648698-47649319	K562	blood:	n/a	chr21:47648960-47648970
14	CHD2	chr21:47648318-47649558	Hela-S3	cervix:	n/a	chr21:47648960-47648970
15	CREB1	chr21:47648459-47649013	A549	lung:	n/a	n/a
16	CREB1	chr21:47648178-47648915	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr21:47648172-47649746	HepG2	liver:	n/a	n/a
18	CREB1	chr21:47648429-47649037	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr21:47648636-47649478	GM12878	blood:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649396-47649406 chr21:47649124-47649142
20	E2F6	chr21:47648542-47648976	K562	blood:	n/a	chr21:47648778-47648787 chr21:47648831-47648840
21	E2F6	chr21:47648610-47648929	K562	blood:	n/a	chr21:47648778-47648787 chr21:47648831-47648840
22	E2F6	chr21:47648090-47648904	H1-hESC	embryonic stem cell:	n/a	chr21:47648778-47648787 chr21:47648831-47648840
23	E2F6	chr21:47647915-47649989	K562	blood:	n/a	chr21:47648778-47648787 chr21:47649412-47649421 chr21:47648831-47648840 chr21:47649121-47649135 chr21:47649339-47649351
24	E2F6	chr21:47647923-47649028	H1-hESC	embryonic stem cell:	n/a	chr21:47648778-47648787 chr21:47648831-47648840
25	EBF1	chr21:47648526-47648976	GM12878	blood:	n/a	n/a
26	EBF1	chr21:47648424-47649002	GM12878	blood:	n/a	n/a
27	EBF1	chr21:47648510-47649263	GM12878	blood:	n/a	n/a
28	EGR1	chr21:47648492-47649686	K562	blood:	n/a	chr21:47648822-47648833 chr21:47649366-47649376 chr21:47648823-47648832 chr21:47649334-47649347 chr21:47649365-47649375 chr21:47649337-47649347 chr21:47648924-47648938 chr21:47648956-47648969 chr21:47648816-47648838 chr21:47648822-47648832 chr21:47648822-47648832 chr21:47648820-47648834 chr21:47648821-47648834 chr21:47649328-47649341 chr21:47648821-47648834 chr21:47649403-47649413 chr21:47648820-47648835 chr21:47648822-47648833 chr21:47648822-47648831 chr21:47648957-47648971 chr21:47648821-47648834 chr21:47648778-47648787
29	EGR1	chr21:47648313-47649526	HCT-116	colon:	n/a	chr21:47648822-47648833 chr21:47649366-47649376 chr21:47648823-47648832 chr21:47649334-47649347 chr21:47649365-47649375 chr21:47649337-47649347 chr21:47648924-47648938 chr21:47648956-47648969 chr21:47648816-47648838 chr21:47648822-47648832 chr21:47648822-47648832 chr21:47648820-47648834 chr21:47648821-47648834 chr21:47649328-47649341 chr21:47648821-47648834 chr21:47649403-47649413 chr21:47648820-47648835 chr21:47648822-47648833 chr21:47648822-47648831 chr21:47648957-47648971 chr21:47648821-47648834 chr21:47648778-47648787
30	EGR1	chr21:47648541-47649440	HCT-116	colon:	n/a	chr21:47648822-47648833 chr21:47649366-47649376 chr21:47648823-47648832 chr21:47649334-47649347 chr21:47649365-47649375 chr21:47649337-47649347 chr21:47648924-47648938 chr21:47648956-47648969 chr21:47648816-47648838 chr21:47648822-47648832 chr21:47648822-47648832 chr21:47648820-47648834 chr21:47648821-47648834 chr21:47649328-47649341 chr21:47648821-47648834 chr21:47649403-47649413 chr21:47648820-47648835 chr21:47648822-47648833 chr21:47648822-47648831 chr21:47648957-47648971 chr21:47648821-47648834 chr21:47648778-47648787
31	EGR1	chr21:47648407-47649506	MCF-7	breast:	n/a	chr21:47648822-47648833 chr21:47649366-47649376 chr21:47648823-47648832 chr21:47649334-47649347 chr21:47649365-47649375 chr21:47649337-47649347 chr21:47648924-47648938 chr21:47648956-47648969 chr21:47648816-47648838 chr21:47648822-47648832 chr21:47648822-47648832 chr21:47648820-47648834 chr21:47648821-47648834 chr21:47649328-47649341 chr21:47648821-47648834 chr21:47649403-47649413 chr21:47648820-47648835 chr21:47648822-47648833 chr21:47648822-47648831 chr21:47648957-47648971 chr21:47648821-47648834 chr21:47648778-47648787
32	EGR1	chr21:47648506-47649511	K562	blood:	n/a	chr21:47648822-47648833 chr21:47649366-47649376 chr21:47648823-47648832 chr21:47649334-47649347 chr21:47649365-47649375 chr21:47649337-47649347 chr21:47648924-47648938 chr21:47648956-47648969 chr21:47648816-47648838 chr21:47648822-47648832 chr21:47648822-47648832 chr21:47648820-47648834 chr21:47648821-47648834 chr21:47649328-47649341 chr21:47648821-47648834 chr21:47649403-47649413 chr21:47648820-47648835 chr21:47648822-47648833 chr21:47648822-47648831 chr21:47648957-47648971 chr21:47648821-47648834 chr21:47648778-47648787
33	EGR1	chr21:47648568-47648984	GM12878	blood:	n/a	chr21:47648822-47648833 chr21:47648823-47648832 chr21:47648924-47648938 chr21:47648956-47648969 chr21:47648816-47648838 chr21:47648822-47648832 chr21:47648822-47648832 chr21:47648820-47648834 chr21:47648821-47648834 chr21:47648821-47648834 chr21:47648820-47648835 chr21:47648822-47648833 chr21:47648822-47648831 chr21:47648957-47648971 chr21:47648821-47648834 chr21:47648778-47648787
34	EGR1	chr21:47648396-47649419	ECC-1	luminal epithelium:	n/a	chr21:47648822-47648833 chr21:47649366-47649376 chr21:47648823-47648832 chr21:47649334-47649347 chr21:47649365-47649375 chr21:47649337-47649347 chr21:47648924-47648938 chr21:47648956-47648969 chr21:47648816-47648838 chr21:47648822-47648832 chr21:47648822-47648832 chr21:47648820-47648834 chr21:47648821-47648834 chr21:47649328-47649341 chr21:47648821-47648834 chr21:47649403-47649413 chr21:47648820-47648835 chr21:47648822-47648833 chr21:47648822-47648831 chr21:47648957-47648971 chr21:47648821-47648834 chr21:47648778-47648787
35	EGR1	chr21:47648524-47649412	GM12878	blood:	n/a	chr21:47648822-47648833 chr21:47649366-47649376 chr21:47648823-47648832 chr21:47649334-47649347 chr21:47649365-47649375 chr21:47649337-47649347 chr21:47648924-47648938 chr21:47648956-47648969 chr21:47648816-47648838 chr21:47648822-47648832 chr21:47648822-47648832 chr21:47648820-47648834 chr21:47648821-47648834 chr21:47649328-47649341 chr21:47648821-47648834 chr21:47648820-47648835 chr21:47648822-47648833 chr21:47648822-47648831 chr21:47648957-47648971 chr21:47648821-47648834 chr21:47648778-47648787
36	EGR1	chr21:47648495-47649470	MCF-7	breast:	n/a	chr21:47648822-47648833 chr21:47649366-47649376 chr21:47648823-47648832 chr21:47649334-47649347 chr21:47649365-47649375 chr21:47649337-47649347 chr21:47648924-47648938 chr21:47648956-47648969 chr21:47648816-47648838 chr21:47648822-47648832 chr21:47648822-47648832 chr21:47648820-47648834 chr21:47648821-47648834 chr21:47649328-47649341 chr21:47648821-47648834 chr21:47649403-47649413 chr21:47648820-47648835 chr21:47648822-47648833 chr21:47648822-47648831 chr21:47648957-47648971 chr21:47648821-47648834 chr21:47648778-47648787
37	EGR1	chr21:47648474-47648984	H1-hESC	embryonic stem cell:	n/a	chr21:47648822-47648833 chr21:47648823-47648832 chr21:47648924-47648938 chr21:47648956-47648969 chr21:47648816-47648838 chr21:47648822-47648832 chr21:47648822-47648832 chr21:47648820-47648834 chr21:47648821-47648834 chr21:47648821-47648834 chr21:47648820-47648835 chr21:47648822-47648833 chr21:47648822-47648831 chr21:47648957-47648971 chr21:47648821-47648834 chr21:47648778-47648787
38	EGR1	chr21:47648575-47649067	ECC-1	luminal epithelium:	n/a	chr21:47648822-47648833 chr21:47648823-47648832 chr21:47648924-47648938 chr21:47648956-47648969 chr21:47648816-47648838 chr21:47648822-47648832 chr21:47648822-47648832 chr21:47648820-47648834 chr21:47648821-47648834 chr21:47648821-47648834 chr21:47648820-47648835 chr21:47648822-47648833 chr21:47648822-47648831 chr21:47648957-47648971 chr21:47648821-47648834 chr21:47648778-47648787
39	EGR1	chr21:47648615-47648920	H1-hESC	embryonic stem cell:	n/a	chr21:47648822-47648833 chr21:47648823-47648832 chr21:47648816-47648838 chr21:47648822-47648832 chr21:47648822-47648832 chr21:47648820-47648834 chr21:47648821-47648834 chr21:47648821-47648834 chr21:47648820-47648835 chr21:47648822-47648833 chr21:47648822-47648831 chr21:47648821-47648834 chr21:47648778-47648787
40	ELF1	chr21:47648106-47648982	GM12878	blood:	n/a	n/a
41	ELF1	chr21:47648097-47648930	K562	blood:	n/a	n/a
42	ELF1	chr21:47648215-47648911	MCF-7	breast:	n/a	n/a
43	EP300	chr21:47648321-47648907	GM12878	blood:	n/a	n/a
44	EP300	chr21:47648658-47648875	K562	blood:	n/a	n/a
45	ETS1	chr21:47648138-47648936	K562	blood:	n/a	n/a
46	ETS1	chr21:47648199-47648791	K562	blood:	n/a	n/a
47	FOSL2	chr21:47648709-47648974	HepG2	liver:	n/a	chr21:47648833-47648842 chr21:47648963-47648972
48	FOXP2	chr21:47648270-47648998	PFSK-1	brain:	n/a	n/a
49	GABPA	chr21:47648271-47648953	K562	blood:	n/a	chr21:47648777-47648788 chr21:47648777-47648791 chr21:47648774-47648788
50	HCFC1	chr21:47648156-47649550	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:47647133..47651941-chr21:47742263..47745700,6	K562	blood:
2	chr21:47647592..47650436-chr21:47705418..47707523,3	K562	blood:
3	chr21:47648325..47649130-chr21:47878619..47879226,2	K562	blood:
4	chr21:47601827..47605045-chr21:47646095..47649627,4	MCF-7	breast:
5	chr21:47647264..47651365-chr21:47875652..47880068,5	K562	blood:
6	chr21:47562180..47565264-chr21:47646835..47649294,3	MCF-7	breast:
7	chr21:47645527..47650637-chr21:47703398..47707562,6	MCF-7	breast:
8	chr21:47647612..47649806-chr21:48055027..48056571,2	K562	blood:
9	chr21:47646324..47649299-chr21:47673752..47676483,2	K562	blood:
10	chr21:47636662..47640838-chr21:47647206..47649915,5	MCF-7	breast:
11	chr21:47647891..47649801-chr21:47679065..47680838,2	K562	blood:
12	chr21:47647133..47651621-chr21:47740452..47747290,19	K562	blood:
13	chr21:47647621..47651234-chr21:47875652..47881416,7	K562	blood:
14	chr21:47633762..47640190-chr21:47646866..47650293,7	MCF-7	breast:
15	chr21:47639961..47644801-chr21:47645631..47650469,7	K562	blood:
16	chr21:47646904..47649112-chr21:47706461..47708002,3	MCF-7	breast:
17	chr21:47647264..47648921-chr21:47877829..47879532,2	MCF-7	breast:
18	chr21:47569776..47574608-chr21:47647325..47651354,5	K562	blood:
19	chr21:47639839..47642625-chr21:47644945..47648967,4	K562	blood:
20	chr21:47645020..47650682-chr21:47742361..47746485,6	MCF-7	breast:
21	chr21:47648381..47651139-chr21:47684651..47687035,3	MCF-7	breast:
22	chr21:47647765..47652638-chr21:47704055..47705991,5	MCF-7	breast:
23	chr21:47646929..47655402-chr21:47657205..47667464,13	MCF-7	breast:
24	chr21:47646269..47649125-chr21:47743785..47746480,4	MCF-7	breast:

Variant related genes	Relation type
MCM3AP-AS1	TF binding region
LSS	TF binding region
ENSG00000160282	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000228404	chromatin interactions
ENSG00000237338	chromatin interactions
ENSG00000228137	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000160310	chromatin interactions
ENSG00000160305	chromatin interactions
ENSG00000160284	chromatin interactions
ENSG00000223901	chromatin interactions
ENSG00000239415	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000160294	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 36 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561184613	chr21:47648730-47648731	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47646200-47649800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr21:47646600-47649600	Active TSS	NHLF	lung
3	chr21:47646600-47649800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr21:47646800-47649600	Active TSS	HMEC	breast
5	chr21:47647000-47649800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr21:47647000-47650000	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr21:47647000-47650000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr21:47647000-47650200	Active TSS	Fetal Kidney	kidney
9	chr21:47647000-47650400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr21:47647200-47649600	Active TSS	Aorta	Aorta
11	chr21:47647200-47649600	Active TSS	Gastric	stomach
12	chr21:47647200-47649800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:47647200-47649800	Active TSS	NHDF-Ad	bronchial
14	chr21:47647400-47648800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr21:47647400-47649600	Active TSS	Primary T cells from cord blood	blood
16	chr21:47647400-47649800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr21:47647400-47649800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr21:47647400-47649800	Active TSS	HepG2	liver
19	chr21:47647400-47650000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr21:47647600-47649200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:47647600-47649200	Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr21:47647600-47649200	Active TSS	Muscle Satellite Cultured Cells	--
23	chr21:47647600-47649200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr21:47647600-47649200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr21:47647600-47649400	Active TSS	H1 Cell Line	embryonic stem cell
26	chr21:47647600-47649400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr21:47647600-47649400	Active TSS	Brain Cingulate Gyrus	brain
28	chr21:47647600-47649400	Active TSS	Colonic Mucosa	Colon
29	chr21:47647600-47649400	Active TSS	Lung	lung
30	chr21:47647600-47649400	Active TSS	Pancreas	Pancrea
31	chr21:47647600-47649400	Active TSS	Right Ventricle	heart
32	chr21:47647600-47649400	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr21:47647600-47649600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:47647600-47649600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr21:47647600-47649600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr21:47647600-47649600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr21:47647600-47649600	Active TSS	Left Ventricle	heart
38	chr21:47647600-47649600	Active TSS	Ovary	ovary
39	chr21:47647600-47649600	Active TSS	Rectal Smooth Muscle	rectum
40	chr21:47647600-47649600	Active TSS	Right Atrium	heart
41	chr21:47647600-47649600	Active TSS	Stomach Mucosa	stomach
42	chr21:47647600-47649600	Active TSS	GM12878-XiMat	blood
43	chr21:47647600-47649600	Active TSS	NHEK	skin
44	chr21:47647600-47649800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:47647600-47649800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr21:47647600-47649800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr21:47647600-47649800	Active TSS	Brain Angular Gyrus	brain
48	chr21:47647600-47649800	Active TSS	Esophagus	oesophagus
49	chr21:47647600-47649800	Active TSS	K562	blood
50	chr21:47647600-47650000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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