Variant report

Variant	rs587597756
Chromosome Location	chr21:46012553-46012554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr21:46012306-46012726	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr21:46012275-46012963	ECC-1	luminal epithelium:	n/a	chr21:46012677-46012687

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46012520-46012570	HCF	heart:	n/a
2	chr21:46012520-46012570	IMR90	lung:	fetal
3	chr21:46012520-46012570	HCT-116	colon:	n/a
4	chr21:46012520-46012570	Hela-S3	cervix:	n/a
5	chr21:46012520-46012570	ovcar-3	ovarian:	n/a
6	chr21:46012520-46012570	Hepatocyte	liver:	n/a
7	chr21:46012520-46012570	HCPEpiC	choroid plexus:	n/a
8	chr21:46012520-46012570	CMK	blood:	n/a
9	chr21:46012520-46012570	RPTEC	kidney:	n/a
10	chr21:46012520-46012570	AG04450	lung:	fetal
11	chr21:46012520-46012570	NB4	blood:	n/a
12	chr21:46012520-46012570	PrEC	prostate:	n/a
13	chr21:46012520-46012570	HMEC	breast:	n/a
14	chr21:46012520-46012570	SK-N-MC	brain:	n/a
15	chr21:46012520-46012570	HPAEpiC	pulmonary alveolar:	n/a
16	chr21:46012520-46012570	Caco-2	colon:	n/a
17	chr21:46012520-46012570	AG09319	gingival:	n/a
18	chr21:46012520-46012570	GM06990	blood:	n/a
19	chr21:46012520-46012570	T-47D	breast:	n/a
20	chr21:46012520-46012570	HIPEpiC	eye:	n/a
21	chr21:46012520-46012570	HL-60	blood:	n/a
22	chr21:46012520-46012570	BJ	skin:	n/a
23	chr21:46012520-46012570	HEEpiC	esophagus:	n/a
24	chr21:46012520-46012570	HepG2	liver:	n/a
25	chr21:46012520-46012570	BE2_C	brain:	n/a
26	chr21:46012520-46012570	SK-N-SH_RA	brain:	n/a
27	chr21:46012520-46012570	HEK293	kidney:	embryo
28	chr21:46012520-46012570	AoSMC	blood vessel:	n/a
29	chr21:46012520-46012570	NHDF-neo	bronchial:	n/a
30	chr21:46012520-46012570	H1-hESC	embryonic stem cell:	embryo
31	chr21:46012520-46012570	HNPCEpiC	eye:	n/a
32	chr21:46012520-46012570	HCM	heart:	n/a
33	chr21:46012520-46012570	LNCaP	prostate:	n/a
34	chr21:46012520-46012570	ProgFib	skin:	n/a
35	chr21:46012520-46012570	PANC-1	pancreas:	n/a
36	chr21:46012520-46012570	K562	blood:	n/a
37	chr21:46012520-46012570	GM12892	blood:	n/a
38	chr21:46012520-46012570	AG10803	skin:	n/a
39	chr21:46012520-46012570	MCF10A-Er-Src	breast:	n/a
40	chr21:46012520-46012570	NHBE	bronchial:	n/a
41	chr21:46012520-46012570	GM12878	blood:	n/a
42	chr21:46012520-46012570	AG04449	skin:	fetal
43	chr21:46012520-46012570	NT2-D1	testis:	n/a
44	chr21:46012520-46012570	SKMC	muscle:	n/a
45	chr21:46012520-46012570	HRE	kidney:	n/a
46	chr21:46012520-46012570	MCF-7	breast:	n/a
47	chr21:46012520-46012570	HRCEpiC	kidney:	n/a
48	chr21:46012520-46012570	PFSK-1	brain:	n/a
49	chr21:46012520-46012570	NH-A	brain:	n/a
50	chr21:46012520-46012570	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46010036..46012728-chr21:46031362..46034012,2	MCF-7	breast:

No data

Variant related genes	Relation type
KRTAP10-6	TF binding region
KRTAP10-6	CpG island
ENSG00000187766	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv913948	chr21:45860912-46031810	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1056424	chr21:45894901-46031810	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv544475	chr21:45894901-46031810	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1055163	chr21:45895663-46031810	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv913950	chr21:45985068-46097463	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv913952	chr21:45988426-46031810	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	esv2751931	chr21:45990446-46031810	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv587810	chr21:45992131-46031810	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	esv3360675	chr21:46010349-46012897	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv913953	chr21:46012524-46031810	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45998800-46012800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:46002400-46018200	Weak transcription	Right Atrium	heart
3	chr21:46011000-46012600	Enhancers	Fetal Muscle Leg	muscle
4	chr21:46011200-46013200	Enhancers	HepG2	liver
5	chr21:46011400-46012600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr21:46011400-46014000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:46011400-46014000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr21:46011400-46014400	Enhancers	Liver	Liver
9	chr21:46011600-46013000	Enhancers	Esophagus	oesophagus
10	chr21:46012000-46013400	Weak transcription	HMEC	breast
11	chr21:46012200-46014000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:46012200-46014000	Enhancers	Placenta	Placenta
13	chr21:46012200-46014200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr21:46012200-46014400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr21:46012400-46012800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:46012400-46012800	Enhancers	Spleen	Spleen
17	chr21:46012400-46013600	Bivalent Enhancer	Fetal Stomach	stomach
18	chr21:46012400-46014600	Enhancers	HUES6 Cell Line	embryonic stem cell

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