Variant report

Variant	rs111887380
Chromosome Location	chr21:47406807-47406808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47406806-47406856	NB4	blood:	n/a
2	chr21:47406806-47406856	HCPEpiC	choroid plexus:	n/a
3	chr21:47406806-47406856	HUVEC	blood vessel:	n/a
4	chr21:47406806-47406856	IMR90	lung:	fetal
5	chr21:47406806-47406856	K562	blood:	n/a
6	chr21:47406806-47406856	HNPCEpiC	eye:	n/a
7	chr21:47406806-47406856	AG09319	gingival:	n/a
8	chr21:47406806-47406856	HEEpiC	esophagus:	n/a
9	chr21:47406806-47406856	HRPEpiC	eye:	n/a
10	chr21:47406806-47406856	HepG2	liver:	n/a
11	chr21:47406806-47406856	SK-N-SH	brain:	n/a
12	chr21:47406806-47406856	ovcar-3	ovarian:	n/a
13	chr21:47406806-47406856	ProgFib	skin:	n/a
14	chr21:47406806-47406856	SKMC	muscle:	n/a
15	chr21:47406806-47406856	PFSK-1	brain:	n/a
16	chr21:47406806-47406856	GM12891	blood:	n/a
17	chr21:47406806-47406856	PANC-1	pancreas:	n/a
18	chr21:47406806-47406856	AG10803	skin:	n/a
19	chr21:47406806-47406856	AG09309	skin:	n/a
20	chr21:47406806-47406856	Caco-2	colon:	n/a
21	chr21:47406806-47406856	HMEC	breast:	n/a
22	chr21:47406806-47406856	U87	brain:	n/a
23	chr21:47406806-47406856	PrEC	prostate:	n/a
24	chr21:47406806-47406856	HEK293	kidney:	embryo
25	chr21:47406806-47406856	SK-N-SH_RA	brain:	n/a
26	chr21:47406806-47406856	SK-N-MC	brain:	n/a
27	chr21:47406806-47406856	BE2_C	brain:	n/a
28	chr21:47406806-47406856	Hepatocyte	liver:	n/a
29	chr21:47406806-47406856	AG04449	skin:	fetal
30	chr21:47406806-47406856	Hela-S3	cervix:	n/a
31	chr21:47406806-47406856	Jurkat	blood:	n/a
32	chr21:47406806-47406856	HRCEpiC	kidney:	n/a
33	chr21:47406806-47406856	GM12878	blood:	n/a
34	chr21:47406806-47406856	NHDF-neo	bronchial:	n/a
35	chr21:47406806-47406856	GM12892	blood:	n/a
36	chr21:47406806-47406856	T-47D	breast:	n/a
37	chr21:47406806-47406856	NHBE	bronchial:	n/a
38	chr21:47406806-47406856	H1-hESC	embryonic stem cell:	embryo
39	chr21:47406806-47406856	HCF	heart:	n/a
40	chr21:47406806-47406856	MCF-7	breast:	n/a
41	chr21:47406806-47406856	AoSMC	blood vessel:	n/a
42	chr21:47406806-47406856	HIPEpiC	eye:	n/a
43	chr21:47406806-47406856	HAEpiC	amniotic membrane:	n/a
44	chr21:47406806-47406856	RPTEC	kidney:	n/a
45	chr21:47406806-47406856	CMK	blood:	n/a
46	chr21:47406806-47406856	NH-A	brain:	n/a
47	chr21:47406806-47406856	HL-60	blood:	n/a
48	chr21:47406806-47406856	GM06990	blood:	n/a
49	chr21:47406806-47406856	ECC-1	luminal epithelium:	n/a
50	chr21:47406806-47406856	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47401629..47403752-chr21:47406521..47408992,2	K562	blood:
2	chr21:47399588..47401782-chr21:47405993..47408923,2	MCF-7	breast:

No data

Variant related genes	Relation type
COL6A1	CpG island
ENSG00000142156	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:35 , 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
34	esv3375886	chr21:47406549-47409397	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
35	nsv587934	chr21:47406601-47423389	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr21:47402800-47407600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr21:47403200-47414600	Weak transcription	Brain Substantia Nigra	brain
4	chr21:47403200-47415200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:47403200-47424600	Weak transcription	Small Intestine	intestine
6	chr21:47403200-47425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr21:47403600-47409600	Weak transcription	Fetal Thymus	thymus
8	chr21:47403600-47414800	Strong transcription	Fetal Intestine Small	intestine
9	chr21:47404000-47407600	Genic enhancers	Placenta	Placenta
10	chr21:47404000-47424200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr21:47404000-47424600	Strong transcription	Aorta	Aorta
12	chr21:47404200-47407400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:47404200-47407600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:47404200-47407600	Genic enhancers	Ovary	ovary
15	chr21:47404200-47407600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
16	chr21:47404200-47407800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr21:47404200-47407800	Strong transcription	Brain Germinal Matrix	brain
18	chr21:47404200-47414400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr21:47404200-47425200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:47404200-47425200	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr21:47404400-47407200	Strong transcription	Gastric	stomach
22	chr21:47404400-47407600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr21:47404400-47407600	Genic enhancers	Rectal Smooth Muscle	rectum
24	chr21:47404400-47409600	Weak transcription	Right Atrium	heart
25	chr21:47404400-47414600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:47404400-47419200	Strong transcription	Left Ventricle	heart
27	chr21:47404600-47407600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr21:47404600-47408600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr21:47404800-47407200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr21:47404800-47407400	Strong transcription	HSMM	muscle
31	chr21:47405000-47407000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr21:47405000-47407400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr21:47405000-47407600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr21:47405000-47407600	Genic enhancers	NH-A	brain
35	chr21:47405000-47407800	Strong transcription	Fetal Lung	lung
36	chr21:47405000-47409200	Weak transcription	Brain Angular Gyrus	brain
37	chr21:47405000-47414600	Weak transcription	Fetal Kidney	kidney
38	chr21:47405000-47417400	Weak transcription	Stomach Mucosa	stomach
39	chr21:47405000-47419400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr21:47405000-47423800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr21:47405000-47425400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr21:47405200-47407200	Strong transcription	Pancreas	Pancrea
43	chr21:47405200-47407400	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr21:47405200-47407600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr21:47405200-47407600	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr21:47405200-47425400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr21:47405200-47425400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr21:47405200-47425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr21:47405400-47407200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr21:47405400-47407600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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