Variant report

Variant	rs4816623
Chromosome Location	chr21:40693843-40693844
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr21:40693780-40694098	A549	lung:	n/a	n/a
2	MAX	chr21:40693305-40694295	MCF-7	breast:	n/a	n/a
3	POLR2A	chr21:40693488-40693918	K562	blood:	n/a	n/a
4	ESR1	chr21:40693335-40694195	T-47D	breast:	n/a	n/a
5	ZNF217	chr21:40693407-40694083	MCF-7	breast:	n/a	n/a
6	CEBPB	chr21:40693679-40694209	A549	lung:	n/a	chr21:40693967-40693978
7	CEBPB	chr21:40693468-40694304	MCF-7	breast:	n/a	chr21:40693967-40693978
8	HA-E2F1	chr21:40693404-40694389	MCF-7	breast:	n/a	n/a
9	GATA3	chr21:40693297-40695267	MCF-7	breast:	n/a	n/a
10	EP300	chr21:40693292-40694585	MCF-7	breast:	n/a	n/a
11	GATA3	chr21:40693396-40694184	MCF-7	breast:	n/a	n/a
12	CEBPB	chr21:40693780-40694165	Hela-S3	cervix:	n/a	chr21:40693967-40693978
13	EP300	chr21:40693237-40694148	T-47D	breast:	n/a	n/a
14	STAT3	chr21:40693814-40694125	MCF10A-Er-Src	breast:	n/a	chr21:40693967-40693975
15	FOXA1	chr21:40693298-40694044	T-47D	breast:	n/a	n/a
16	PBX3	chr21:40693616-40694200	SK-N-SH	brain:	n/a	n/a
17	FOXA2	chr21:40693321-40693851	A549	lung:	n/a	n/a
18	GATA3	chr21:40693352-40694179	T-47D	breast:	n/a	n/a
19	TEAD4	chr21:40693326-40694232	MCF-7	breast:	n/a	n/a
20	FOSL2	chr21:40693314-40694223	MCF-7	breast:	n/a	n/a
21	JUND	chr21:40693382-40694136	T-47D	breast:	n/a	n/a
22	FOSL2	chr21:40693721-40694157	A549	lung:	n/a	n/a
23	HDAC2	chr21:40693259-40694255	MCF-7	breast:	n/a	n/a
24	CEBPB	chr21:40693792-40694145	IMR90	lung:	n/a	chr21:40693967-40693978
25	ESR1	chr21:40693363-40694186	T-47D	breast:	n/a	n/a
26	FOXM1	chr21:40693322-40694177	MCF-7	breast:	n/a	n/a
27	FOXM1	chr21:40693349-40694292	MCF-7	breast:	n/a	n/a
28	HDAC2	chr21:40693349-40694148	MCF-7	breast:	n/a	n/a
29	SIN3AK20	chr21:40693293-40694502	MCF-7	breast:	n/a	n/a
30	NR2F2	chr21:40693346-40694302	MCF-7	breast:	n/a	n/a
31	FOS	chr21:40693741-40694101	MCF10A-Er-Src	breast:	n/a	n/a
32	JUND	chr21:40693807-40693957	HepG2	liver:	n/a	n/a
33	EP300	chr21:40693345-40694253	MCF-7	breast:	n/a	n/a
34	FOS	chr21:40693718-40694149	MCF10A-Er-Src	breast:	n/a	n/a
35	EP300	chr21:40693817-40694064	Hela-S3	cervix:	n/a	n/a
36	FOS	chr21:40693723-40694124	MCF10A-Er-Src	breast:	n/a	n/a
37	MAX	chr21:40693287-40694280	MCF-7	breast:	n/a	n/a
38	PBX3	chr21:40693720-40694145	SK-N-SH	brain:	n/a	n/a
39	CEBPB	chr21:40693815-40694096	A549	lung:	n/a	chr21:40693967-40693978
40	SIN3AK20	chr21:40693261-40694283	MCF-7	breast:	n/a	n/a
41	TBP	chr21:40693759-40694021	K562	blood:	n/a	n/a
42	GATA3	chr21:40693267-40694438	MCF-7	breast:	n/a	n/a
43	ESR1	chr21:40693395-40694052	T-47D	breast:	n/a	n/a
44	NR2F2	chr21:40693294-40695179	MCF-7	breast:	n/a	n/a
45	HEY1	chr21:40693394-40693968	K562	blood:	n/a	n/a
46	MYC	chr21:40693648-40694135	MCF10A-Er-Src	breast:	n/a	n/a
47	TEAD4	chr21:40693370-40694130	MCF-7	breast:	n/a	n/a
48	RCOR1	chr21:40693738-40694031	Hela-S3	cervix:	n/a	n/a
49	TCF7L2	chr21:40693467-40694210	MCF-7	breast:	n/a	n/a
50	GATA3	chr21:40693348-40694238	T-47D	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
2	chr21:40692002..40694012-chr22:43010007..43012538,2	MCF-7	breast:
3	chr21:40691963..40695047-chr21:40751458..40754017,3	MCF-7	breast:
4	chr21:40693407..40696384-chr21:40756189..40758708,3	MCF-7	breast:
5	chr21:40693463..40696053-chr21:40759629..40761307,2	MCF-7	breast:

No data

Variant related genes	Relation type
BRWD1	TF binding region
ENSG00000238556	Chromatin interaction
ENSG00000270022	Chromatin interaction
ENSG00000252915	Chromatin interaction
ENSG00000100227	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000205581	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10154057	0.81[EUR][1000 genomes]
rs1041439	0.87[EUR][1000 genomes]
rs11702268	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11910705	0.82[ASN][1000 genomes]
rs11910906	0.81[ASN][1000 genomes]
rs11910971	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13050247	0.87[EUR][1000 genomes]
rs13050584	0.87[EUR][1000 genomes]
rs13051430	0.87[EUR][1000 genomes]
rs1541100	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1541101	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1888488	0.86[ASN][1000 genomes]
rs1984748	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2026266	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2037925	0.83[ASN][1000 genomes]
rs2070867	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2142117	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2150410	0.87[EUR][1000 genomes]
rs2150412	0.87[EUR][1000 genomes]
rs2183574	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2183575	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2183576	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2225425	0.86[EUR][1000 genomes]
rs2236437	0.82[EUR][1000 genomes]
rs2272576	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2272577	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2272578	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2297258	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2410104	0.85[EUR][1000 genomes]
rs2410121	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2410123	0.82[ASN][1000 genomes]
rs2410124	0.83[ASN][1000 genomes]
rs2735310	1.00[AFR][1000 genomes]
rs2776310	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2836981	0.87[ASN][1000 genomes]
rs2836987	0.82[ASN][1000 genomes]
rs2836988	0.81[ASN][1000 genomes]
rs34240248	0.84[ASN][1000 genomes]
rs34436313	0.84[ASN][1000 genomes]
rs35182074	0.83[ASN][1000 genomes]
rs3746885	0.96[ASN][1000 genomes]
rs3746886	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs383967	0.87[EUR][1000 genomes]
rs391062	0.87[EUR][1000 genomes]
rs413078	0.87[EUR][1000 genomes]
rs425988	0.87[EUR][1000 genomes]
rs444130	0.87[EUR][1000 genomes]
rs452776	0.87[EUR][1000 genomes]
rs4624474	0.83[ASN][1000 genomes]
rs4816619	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4818004	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4818006	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4818007	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4818011	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4818012	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4818014	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4818017	0.87[ASN][1000 genomes]
rs55885019	0.81[EUR][1000 genomes]
rs61300849	0.84[ASN][1000 genomes]
rs6517520	0.87[EUR][1000 genomes]
rs6517524	0.87[EUR][1000 genomes]
rs6517525	0.87[EUR][1000 genomes]
rs6517529	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6517530	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6517531	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6517532	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6517534	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6517536	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6517537	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6517539	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6517540	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6517541	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6650847	0.87[EUR][1000 genomes]
rs66519408	0.87[EUR][1000 genomes]
rs66746936	0.87[EUR][1000 genomes]
rs67212994	0.87[EUR][1000 genomes]
rs67382266	0.81[EUR][1000 genomes]
rs67649754	0.87[EUR][1000 genomes]
rs68069991	0.81[EUR][1000 genomes]
rs68086041	0.81[EUR][1000 genomes]
rs68114370	0.87[EUR][1000 genomes]
rs718225	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs726046	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7275773	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7276559	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7276698	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7279558	0.87[ASN][1000 genomes]
rs7280149	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7280326	0.83[ASN][1000 genomes]
rs7282029	0.87[EUR][1000 genomes]
rs7282724	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7282947	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7283439	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7283652	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8127391	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8127537	0.87[EUR][1000 genomes]
rs8127986	0.86[ASN][1000 genomes]
rs8128118	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8129847	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8130099	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8130774	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8130854	0.82[ASN][1000 genomes]
rs8131067	0.80[ASN][1000 genomes]
rs8131091	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8131150	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8131263	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8131307	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8132230	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs914157	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs971229	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs973521	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9975410	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9975614	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9978591	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9978953	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9979547	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9981301	0.83[ASN][1000 genomes]
rs9981656	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9982122	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv587482	chr21:40684427-40706594	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv587483	chr21:40686327-40718161	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40690800-40694600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr21:40692000-40694000	Enhancers	HMEC	breast
3	chr21:40692000-40694200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr21:40692400-40694400	Weak transcription	HSMMtube	muscle
5	chr21:40692400-40694600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr21:40692400-40718400	Weak transcription	Right Atrium	heart
7	chr21:40692600-40694400	Weak transcription	Right Ventricle	heart
8	chr21:40693200-40694000	Enhancers	K562	blood
9	chr21:40693200-40694600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:40693200-40694800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:40693400-40694200	Enhancers	Osteobl	bone
12	chr21:40693400-40694600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:40693400-40694600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:40693400-40694600	Enhancers	NHDF-Ad	bronchial
15	chr21:40693400-40694600	Enhancers	NHEK	skin
16	chr21:40693400-40694800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:40693400-40694800	Enhancers	HepG2	liver
18	chr21:40693400-40695000	Enhancers	Hela-S3	cervix
19	chr21:40693600-40694000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:40693600-40694200	Weak transcription	Placenta	Placenta
21	chr21:40693800-40694000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr21:40693800-40694000	Flanking Active TSS	A549	lung
23	chr21:40693800-40694400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr21:40693800-40694600	Enhancers	Muscle Satellite Cultured Cells	--

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