Variant report

Variant	rs565131512
Chromosome Location	chr21:45232632-45232633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:183)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45227444-45233850	K562	blood:	n/a	n/a
2	CTCF	chr21:45232600-45232750	HEEpiC	esophagus:	n/a	n/a
3	POLR2A	chr21:45232632-45232639	K562	blood:	n/a	n/a
4	POLR2A	chr21:45232500-45232852	K562	blood:	n/a	n/a
5	STAT3	chr21:45232525-45232725	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr21:45227647-45232825	Hela-S3	cervix:	n/a	n/a
7	MYC	chr21:45231990-45232746	MCF10A-Er-Src	breast:	n/a	n/a
8	ZNF263	chr21:45232113-45232694	HEK293-T-REx	kidney:	n/a	chr21:45232456-45232465
9	CTCF	chr21:45232580-45232730	NHEK	skin:	n/a	n/a
10	POLR2A	chr21:45232444-45232706	MCF10A-Er-Src	breast:	n/a	n/a
11	CTCF	chr21:45232580-45232730	HEEpiC	esophagus:	n/a	n/a
12	FOS	chr21:45232509-45232732	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr21:45232524-45232722	MCF10A-Er-Src	breast:	n/a	n/a
14	CTCF	chr21:45232560-45232710	HMEC	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45232601-45232651	HEK293	kidney:	embryo
2	chr21:45232587-45232637	PFSK-1	brain:	n/a
3	chr21:45232587-45232637	PrEC	prostate:	n/a
4	chr21:45232595-45232645	NH-A	brain:	n/a
5	chr21:45232587-45232637	HCT-116	colon:	n/a
6	chr21:45232601-45232651	AG09309	skin:	n/a
7	chr21:45232595-45232645	BJ	skin:	n/a
8	chr21:45232587-45232637	ProgFib	skin:	n/a
9	chr21:45232601-45232651	HRE	kidney:	n/a
10	chr21:45232587-45232637	LNCaP	prostate:	n/a
11	chr21:45232587-45232637	MCF10A-Er-Src	breast:	n/a
12	chr21:45232601-45232651	HL-60	blood:	n/a
13	chr21:45232595-45232645	NHDF-neo	bronchial:	n/a
14	chr21:45232595-45232645	HL-60	blood:	n/a
15	chr21:45232601-45232651	IMR90	lung:	fetal
16	chr21:45232587-45232637	Hela-S3	cervix:	n/a
17	chr21:45232595-45232645	AG09309	skin:	n/a
18	chr21:45232587-45232637	GM12891	blood:	n/a
19	chr21:45232595-45232645	Hepatocyte	liver:	n/a
20	chr21:45232595-45232645	AG04449	skin:	fetal
21	chr21:45232601-45232651	MCF-7	breast:	n/a
22	chr21:45232595-45232645	HAEpiC	amniotic membrane:	n/a
23	chr21:45232595-45232645	PrEC	prostate:	n/a
24	chr21:45232595-45232645	SK-N-SH	brain:	n/a
25	chr21:45232587-45232637	HepG2	liver:	n/a
26	chr21:45232587-45232637	Jurkat	blood:	n/a
27	chr21:45232601-45232651	Hepatocyte	liver:	n/a
28	chr21:45232601-45232651	SK-N-MC	brain:	n/a
29	chr21:45232595-45232645	AG10803	skin:	n/a
30	chr21:45232595-45232645	HRPEpiC	eye:	n/a
31	chr21:45232601-45232651	HIPEpiC	eye:	n/a
32	chr21:45232587-45232637	Caco-2	colon:	n/a
33	chr21:45232595-45232645	AG09319	gingival:	n/a
34	chr21:45232587-45232637	CMK	blood:	n/a
35	chr21:45232595-45232645	NT2-D1	testis:	n/a
36	chr21:45232601-45232651	H1-hESC	embryonic stem cell:	embryo
37	chr21:45232601-45232651	HepG2	liver:	n/a
38	chr21:45232587-45232637	HRE	kidney:	n/a
39	chr21:45232595-45232645	ProgFib	skin:	n/a
40	chr21:45232595-45232645	CMK	blood:	n/a
41	chr21:45232587-45232637	IMR90	lung:	fetal
42	chr21:45232595-45232645	Caco-2	colon:	n/a
43	chr21:45232595-45232645	NHBE	bronchial:	n/a
44	chr21:45232587-45232637	AG09309	skin:	n/a
45	chr21:45232601-45232651	A549	lung:	n/a
46	chr21:45232587-45232637	HRCEpiC	kidney:	n/a
47	chr21:45232601-45232651	PFSK-1	brain:	n/a
48	chr21:45232587-45232637	NH-A	brain:	n/a
49	chr21:45232601-45232651	SK-N-SH	brain:	n/a
50	chr21:45232595-45232645	HNPCEpiC	eye:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45226367..45233141-chr21:45284145..45288607,11	K562	blood:
2	chr21:45230413..45233240-chr21:45552025..45554993,2	MCF-7	breast:
3	chr21:45202942..45205405-chr21:45231641..45234246,2	K562	blood:
4	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
5	chr21:45228592..45232844-chr21:45283509..45286625,5	MCF-7	breast:
6	chr21:45228584..45234568-chr21:45342221..45347972,7	K562	blood:
7	chr21:45229004..45230702-chr21:45230841..45232657,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215458	TF binding region
ENSG00000215458	CpG island
ENSG00000234030	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000215458	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	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
11	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv913883	chr21:45191139-45252838	Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913884	chr21:45191139-45255836	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv544469	chr21:45194085-45257959	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913885	chr21:45206355-45249474	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv587718	chr21:45210932-45252838	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv1065007	chr21:45212880-45257959	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
19	nsv544470	chr21:45212880-45257959	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
20	nsv459292	chr21:45218440-45269841	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv587719	chr21:45218440-45269841	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv522204	chr21:45220483-45246326	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv913886	chr21:45220483-45267193	Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	esv1844567	chr21:45230974-45246326	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
25	nsv587720	chr21:45232322-45263920	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45211000-45257200	Weak transcription	Right Atrium	heart
2	chr21:45221800-45234200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr21:45224600-45234600	Weak transcription	Hela-S3	cervix
4	chr21:45224800-45234200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:45224800-45238400	Weak transcription	Aorta	Aorta
6	chr21:45226200-45234200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr21:45226400-45234400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr21:45226600-45234800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr21:45226800-45234400	Weak transcription	Brain Germinal Matrix	brain
10	chr21:45226800-45234800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr21:45229200-45232800	Enhancers	Ovary	ovary
12	chr21:45229600-45232800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:45229800-45237000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr21:45230200-45232800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr21:45230200-45232800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr21:45230200-45233000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr21:45230200-45233200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr21:45230600-45232800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr21:45230600-45232800	Enhancers	Brain Substantia Nigra	brain
20	chr21:45230600-45232800	Enhancers	Fetal Lung	lung
21	chr21:45230800-45233200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr21:45230800-45233200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:45230800-45233200	Enhancers	Lung	lung
24	chr21:45231000-45234400	Weak transcription	Fetal Brain Male	brain
25	chr21:45231200-45232800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:45231200-45232800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr21:45231200-45232800	Flanking Active TSS	NHEK	skin
28	chr21:45231200-45234200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:45231200-45234200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr21:45231200-45234200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr21:45231200-45234200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr21:45231200-45234200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr21:45231200-45234400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:45231200-45234400	Weak transcription	Pancreas	Pancrea
35	chr21:45231200-45235800	Weak transcription	Right Ventricle	heart
36	chr21:45231200-45236200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr21:45231400-45232800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr21:45231400-45233800	Enhancers	Spleen	Spleen
39	chr21:45231400-45234600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr21:45231400-45234600	Weak transcription	Fetal Intestine Small	intestine
41	chr21:45231400-45234600	Weak transcription	K562	blood
42	chr21:45231800-45232800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr21:45231800-45232800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr21:45232200-45232800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr21:45232200-45232800	Enhancers	Liver	Liver
46	chr21:45232200-45232800	Enhancers	Brain Angular Gyrus	brain
47	chr21:45232200-45233400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr21:45232200-45234600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr21:45232200-45236200	Enhancers	Placenta	Placenta
50	chr21:45232400-45232800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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