Variant report

Variant	rs561571560
Chromosome Location	chr21:47405823-47405824
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:47405780-47405930	AG09309	skin:	n/a	chr21:47405838-47405851

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47405786-47405836	A549	lung:	n/a
2	chr21:47405786-47405836	HCPEpiC	choroid plexus:	n/a
3	chr21:47405786-47405836	Caco-2	colon:	n/a
4	chr21:47405786-47405836	MCF-7	breast:	n/a
5	chr21:47405786-47405836	HRPEpiC	eye:	n/a
6	chr21:47405786-47405836	GM12891	blood:	n/a
7	chr21:47405786-47405836	BE2_C	brain:	n/a
8	chr21:47405786-47405836	CMK	blood:	n/a
9	chr21:47405786-47405836	AG09319	gingival:	n/a
10	chr21:47405786-47405836	AG04450	lung:	fetal
11	chr21:47405786-47405836	IMR90	lung:	fetal
12	chr21:47405786-47405836	NB4	blood:	n/a
13	chr21:47405786-47405836	ovcar-3	ovarian:	n/a
14	chr21:47405786-47405836	PrEC	prostate:	n/a
15	chr21:47405786-47405836	AG04449	skin:	fetal
16	chr21:47405786-47405836	MCF10A-Er-Src	breast:	n/a
17	chr21:47405786-47405836	HCM	heart:	n/a
18	chr21:47405786-47405836	SKMC	muscle:	n/a
19	chr21:47405786-47405836	HIPEpiC	eye:	n/a
20	chr21:47405786-47405836	U87	brain:	n/a
21	chr21:47405786-47405836	SAEC	small airway:	n/a
22	chr21:47405786-47405836	HRE	kidney:	n/a
23	chr21:47405786-47405836	HAEpiC	amniotic membrane:	n/a
24	chr21:47405786-47405836	ECC-1	luminal epithelium:	n/a
25	chr21:47405786-47405836	PFSK-1	brain:	n/a
26	chr21:47405786-47405836	HL-60	blood:	n/a
27	chr21:47405786-47405836	AG09309	skin:	n/a
28	chr21:47405786-47405836	AG10803	skin:	n/a
29	chr21:47405786-47405836	NHBE	bronchial:	n/a
30	chr21:47405786-47405836	K562	blood:	n/a
31	chr21:47405786-47405836	GM06990	blood:	n/a
32	chr21:47405786-47405836	GM12878	blood:	n/a
33	chr21:47405786-47405836	H1-hESC	embryonic stem cell:	embryo
34	chr21:47405786-47405836	GM19239	blood:	n/a
35	chr21:47405786-47405836	Jurkat	blood:	n/a
36	chr21:47405786-47405836	SK-N-MC	brain:	n/a
37	chr21:47405786-47405836	T-47D	breast:	n/a
38	chr21:47405786-47405836	ProgFib	skin:	n/a
39	chr21:47405786-47405836	SK-N-SH	brain:	n/a
40	chr21:47405786-47405836	NHDF-neo	bronchial:	n/a
41	chr21:47405786-47405836	HNPCEpiC	eye:	n/a
42	chr21:47405786-47405836	HCT-116	colon:	n/a
43	chr21:47405786-47405836	HEK293	kidney:	embryo
44	chr21:47405786-47405836	HMEC	breast:	n/a
45	chr21:47405786-47405836	HEEpiC	esophagus:	n/a
46	chr21:47405786-47405836	HPAEpiC	pulmonary alveolar:	n/a
47	chr21:47405786-47405836	HepG2	liver:	n/a
48	chr21:47405786-47405836	HUVEC	blood vessel:	n/a
49	chr21:47405786-47405836	LNCaP	prostate:	n/a
50	chr21:47405786-47405836	NH-A	brain:	n/a

No data

Variant related genes	Relation type
COL6A1	TF binding region
COL6A1	CpG island

Extended variants
information (count: 33 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
8	nsv428043	chr21:47179244-47471971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a
9	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
10	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
11	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
12	nsv914083	chr21:47265786-47453954	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
13	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
14	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
15	nsv914085	chr21:47342116-47433055	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
16	esv1848879	chr21:47343462-47455584	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
17	nsv914086	chr21:47352625-47445184	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
18	nsv914087	chr21:47352625-47453954	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
19	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
20	nsv914088	chr21:47358915-47419012	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
21	nsv914089	chr21:47383056-47453954	ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
22	nsv914090	chr21:47383056-47465205	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
23	nsv914091	chr21:47383056-47483799	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
24	nsv587930	chr21:47389258-47423389	Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
25	nsv587931	chr21:47393268-47412660	Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
26	esv1802000	chr21:47394780-47476081	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
27	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats 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	95 gene(s)	inside rSNPs	n/a
28	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS 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	95 gene(s)	inside rSNPs	n/a
29	nsv587932	chr21:47398411-47418311	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
30	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
31	nsv587933	chr21:47401193-47412703	Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
32	esv1824109	chr21:47401282-47431018	Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
33	nsv933009	chr21:47405394-47407195	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47401200-47407600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr21:47402200-47406200	Transcr. at gene 5' and 3'	NHLF	lung
3	chr21:47402800-47406000	Weak transcription	Liver	Liver
4	chr21:47402800-47406000	Weak transcription	Brain Hippocampus Middle	brain
5	chr21:47402800-47407600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr21:47403200-47414600	Weak transcription	Brain Substantia Nigra	brain
7	chr21:47403200-47415200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:47403200-47424600	Weak transcription	Small Intestine	intestine
9	chr21:47403200-47425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr21:47403400-47406000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr21:47403400-47406000	Genic enhancers	Spleen	Spleen
12	chr21:47403600-47406800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:47403600-47409600	Weak transcription	Fetal Thymus	thymus
14	chr21:47403600-47414800	Strong transcription	Fetal Intestine Small	intestine
15	chr21:47404000-47406400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
16	chr21:47404000-47407600	Genic enhancers	Placenta	Placenta
17	chr21:47404000-47424200	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr21:47404000-47424600	Strong transcription	Aorta	Aorta
19	chr21:47404200-47406200	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
20	chr21:47404200-47406200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
21	chr21:47404200-47406600	Strong transcription	Right Ventricle	heart
22	chr21:47404200-47407400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:47404200-47407600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:47404200-47407600	Genic enhancers	Ovary	ovary
25	chr21:47404200-47407600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
26	chr21:47404200-47407800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr21:47404200-47407800	Strong transcription	Brain Germinal Matrix	brain
28	chr21:47404200-47414400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr21:47404200-47425200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:47404200-47425200	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr21:47404400-47407200	Strong transcription	Gastric	stomach
32	chr21:47404400-47407600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr21:47404400-47407600	Genic enhancers	Rectal Smooth Muscle	rectum
34	chr21:47404400-47409600	Weak transcription	Right Atrium	heart
35	chr21:47404400-47414600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr21:47404400-47419200	Strong transcription	Left Ventricle	heart
37	chr21:47404600-47407600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr21:47404600-47408600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr21:47404800-47407200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr21:47404800-47407400	Strong transcription	HSMM	muscle
41	chr21:47405000-47406400	Genic enhancers	Adipose Nuclei	Adipose
42	chr21:47405000-47406400	Strong transcription	Fetal Intestine Large	intestine
43	chr21:47405000-47406800	Strong transcription	Lung	lung
44	chr21:47405000-47407000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr21:47405000-47407400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr21:47405000-47407600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr21:47405000-47407600	Genic enhancers	NH-A	brain
48	chr21:47405000-47407800	Strong transcription	Fetal Lung	lung
49	chr21:47405000-47409200	Weak transcription	Brain Angular Gyrus	brain
50	chr21:47405000-47414600	Weak transcription	Fetal Kidney	kidney

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