Variant report

Variant	esv3455001
Chromosome Location	chr21:47387374-47390272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47389572..47393249-chr21:47393676..47397258,4	K562	blood:
2	chr21:47388213..47390098-chr21:47396842..47399384,2	MCF-7	breast:
3	chr21:47387372..47388982-chr21:47392168..47393871,2	MCF-7	breast:
4	chr21:47386674..47388281-chr21:47388690..47390672,2	MCF-7	breast:
5	chr21:47390231..47390753-chr21:47630052..47630891,2	MCF-7	breast:
6	chr21:47389198..47390888-chr21:47465741..47468426,2	K562	blood:
7	chr21:47386674..47388281-chr21:47388690..47390672,2	MCF-7	breast:

Extended variants
information (count: 100 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66504764	chr21:47387390-47387391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs59455961	chr21:47387412-47387413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574787077	chr21:47387415-47387416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182093040	chr21:47387435-47387436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186100659	chr21:47387471-47387472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527855349	chr21:47387498-47387499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190625808	chr21:47387519-47387520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538701191	chr21:47387534-47387535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141710587	chr21:47387536-47387537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183337660	chr21:47387570-47387571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558996910	chr21:47387677-47387678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532299243	chr21:47387680-47387681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568105087	chr21:47387682-47387683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185362319	chr21:47387683-47387684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547741715	chr21:47387690-47387691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368160357	chr21:47387726-47387727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112053814	chr21:47387730-47387731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557940621	chr21:47387736-47387737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56695931	chr21:47387744-47387745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs111764213	chr21:47387768-47387769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7279116	chr21:47387789-47387790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183011706	chr21:47387811-47387812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574525310	chr21:47387815-47387816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554709458	chr21:47387818-47387819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139604000	chr21:47387822-47387823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574703099	chr21:47387847-47387848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541845106	chr21:47387862-47387863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111863964	chr21:47387868-47387869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113161435	chr21:47387932-47387933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148541293	chr21:47387953-47387954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372902379	chr21:47387954-47387955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10700060	chr21:47387961-47387962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57265472	chr21:47387972-47387973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373338857	chr21:47388029-47388030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201783523	chr21:47388030-47388031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540478945	chr21:47388063-47388064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143020401	chr21:47388083-47388084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546035400	chr21:47388091-47388092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147463966	chr21:47388110-47388111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78634612	chr21:47388130-47388131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs8129765	chr21:47388151-47388152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187347175	chr21:47388158-47388159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528865854	chr21:47388184-47388185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368351865	chr21:47388185-47388186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs8129879	chr21:47388196-47388197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs192487733	chr21:47388211-47388212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574202581	chr21:47388230-47388231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539720693	chr21:47388301-47388302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79496831	chr21:47388302-47388303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183642403	chr21:47388333-47388334	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47379800-47392000	Weak transcription	Right Atrium	heart
2	chr21:47383600-47390400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:47385000-47390000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr21:47385400-47389800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr21:47385800-47390400	Weak transcription	Liver	Liver
6	chr21:47386000-47390000	Weak transcription	Fetal Muscle Leg	muscle
7	chr21:47386000-47390400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:47387200-47390200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:47389800-47390200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr21:47389800-47390800	Enhancers	Fetal Stomach	stomach
11	chr21:47390000-47390200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr21:47390000-47390200	Enhancers	Fetal Muscle Trunk	muscle
13	chr21:47390000-47390400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr21:47390000-47390600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:47390000-47391200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:47390000-47392000	Enhancers	Placenta	Placenta
17	chr21:47390000-47392400	Enhancers	Fetal Muscle Leg	muscle
18	chr21:47390200-47390400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr21:47390200-47390400	Enhancers	Stomach Smooth Muscle	stomach
20	chr21:47390200-47390400	Bivalent Enhancer	HepG2	liver
21	chr21:47390200-47390600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr21:47390200-47391000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:47390200-47391400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:47390200-47391400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr21:47390200-47391400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr21:47390200-47391600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr21:47390200-47392000	Enhancers	Colon Smooth Muscle	Colon
28	chr21:47390200-47392000	Enhancers	Rectal Smooth Muscle	rectum
29	chr21:47390200-47392200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr21:47390200-47393400	Enhancers	Fetal Lung	lung
31	chr21:47390200-47393800	Enhancers	Fetal Heart	heart

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