Variant report

Variant	rs551428235
Chromosome Location	chr21:16437844-16437845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:16436157-16438395	HUVEC	blood vessel:	n/a	n/a
2	REST	chr21:16435354-16438905	H1-neurons	neurons:	n/a	chr21:16438223-16438243 chr21:16436686-16436699 chr21:16437368-16437381 chr21:16437338-16437351 chr21:16437700-16437720 chr21:16438053-16438066 chr21:16436674-16436687 chr21:16437707-16437720 chr21:16436992-16437005 chr21:16438061-16438081 chr21:16437144-16437157 chr21:16436670-16436690 chr21:16438061-16438081 chr21:16438056-16438069 chr21:16438063-16438073 chr21:16437711-16437720 chr21:16437704-16437717
3	POLR2A	chr21:16436275-16438550	K562	blood:	n/a	n/a
4	REST	chr21:16437340-16437982	ECC-1	luminal epithelium:	n/a	chr21:16437368-16437381 chr21:16437700-16437720 chr21:16437707-16437720 chr21:16437711-16437720 chr21:16437704-16437717
5	POLR2A	chr21:16436329-16438563	K562	blood:	n/a	n/a
6	REST	chr21:16437194-16438505	HL-60	blood:	n/a	chr21:16438223-16438243 chr21:16437368-16437381 chr21:16437338-16437351 chr21:16437700-16437720 chr21:16438053-16438066 chr21:16437707-16437720 chr21:16438061-16438081 chr21:16438061-16438081 chr21:16438056-16438069 chr21:16438063-16438073 chr21:16437711-16437720 chr21:16437704-16437717
7	POLR2A	chr21:16436862-16438363	A549	lung:	n/a	n/a
8	REST	chr21:16437244-16438373	PFSK-1	brain:	n/a	chr21:16438223-16438243 chr21:16437368-16437381 chr21:16437338-16437351 chr21:16437700-16437720 chr21:16438053-16438066 chr21:16437707-16437720 chr21:16438061-16438081 chr21:16438061-16438081 chr21:16438056-16438069 chr21:16438063-16438073 chr21:16437711-16437720 chr21:16437704-16437717
9	RAD21	chr21:16435484-16438771	IMR90	lung:	n/a	chr21:16437126-16437140
10	REST	chr21:16437219-16437907	HepG2	liver:	n/a	chr21:16437368-16437381 chr21:16437338-16437351 chr21:16437700-16437720 chr21:16437707-16437720 chr21:16437711-16437720 chr21:16437704-16437717
11	REST	chr21:16437183-16438366	U87	brain:	n/a	chr21:16438223-16438243 chr21:16437368-16437381 chr21:16437338-16437351 chr21:16437700-16437720 chr21:16438053-16438066 chr21:16437707-16437720 chr21:16438061-16438081 chr21:16438061-16438081 chr21:16438056-16438069 chr21:16438063-16438073 chr21:16437711-16437720 chr21:16437704-16437717
12	POLR2A	chr21:16436813-16438821	GM12891	blood:	n/a	n/a
13	ZBTB7A	chr21:16437363-16438153	ECC-1	luminal epithelium:	n/a	chr21:16437933-16437947
14	REST	chr21:16437306-16437944	A549	lung:	n/a	chr21:16437368-16437381 chr21:16437338-16437351 chr21:16437700-16437720 chr21:16437707-16437720 chr21:16437711-16437720 chr21:16437704-16437717
15	CTCF	chr21:16437720-16437870	HUVEC	blood vessel:	n/a	n/a
16	MAX	chr21:16436969-16438378	K562	blood:	n/a	chr21:16437418-16437427 chr21:16437464-16437474 chr21:16438272-16438282
17	POLR2A	chr21:16437032-16438583	HepG2	liver:	n/a	n/a
18	POLR2A	chr21:16436206-16438543	IMR90	lung:	n/a	n/a
19	POLR2A	chr21:16436153-16438478	K562	blood:	n/a	n/a
20	POLR2A	chr21:16435389-16438447	MCF10A-Er-Src	breast:	n/a	n/a
21	UBTF	chr21:16435349-16438535	K562	blood:	n/a	n/a
22	POLR2A	chr21:16436137-16438396	HepG2	liver:	n/a	n/a
23	POLR2A	chr21:16437804-16438623	U87	brain:	n/a	n/a
24	CCNT2	chr21:16436402-16438540	K562	blood:	n/a	chr21:16437785-16437794
25	POLR2A	chr21:16437051-16438557	HL-60	blood:	n/a	n/a
26	REST	chr21:16437271-16438136	HL-60	blood:	n/a	chr21:16437368-16437381 chr21:16437338-16437351 chr21:16437700-16437720 chr21:16438053-16438066 chr21:16437707-16437720 chr21:16438061-16438081 chr21:16438061-16438081 chr21:16438056-16438069 chr21:16438063-16438073 chr21:16437711-16437720 chr21:16437704-16437717
27	POLR2A	chr21:16436415-16438439	MCF-7	breast:	n/a	n/a
28	ELF1	chr21:16436324-16438465	GM12878	blood:	n/a	chr21:16437015-16437027 chr21:16437267-16437276 chr21:16436698-16436710 chr21:16437282-16437291 chr21:16438280-16438289 chr21:16438407-16438418
29	POLR2A	chr21:16437791-16438523	H1-neurons	neurons:	n/a	n/a
30	REST	chr21:16437166-16438063	ECC-1	luminal epithelium:	n/a	chr21:16437368-16437381 chr21:16437338-16437351 chr21:16437700-16437720 chr21:16437707-16437720 chr21:16437711-16437720 chr21:16437704-16437717
31	REST	chr21:16437225-16437892	K562	blood:	n/a	chr21:16437368-16437381 chr21:16437338-16437351 chr21:16437700-16437720 chr21:16437707-16437720 chr21:16437711-16437720 chr21:16437704-16437717
32	POLR2A	chr21:16437080-16438666	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr21:16433055-16438919	MCF-7	breast:	n/a	n/a
34	MAZ	chr21:16436266-16438226	Hela-S3	cervix:	n/a	chr21:16437418-16437427 chr21:16437464-16437474
35	POLR2A	chr21:16436489-16438448	GM12878	blood:	n/a	n/a
36	POLR2A	chr21:16436602-16438423	GM15510	blood:	n/a	n/a
37	POLR2A	chr21:16436734-16438460	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr21:16437205-16438689	HepG2	liver:	n/a	n/a
39	RCOR1	chr21:16436902-16438362	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr21:16436939-16437896	GM12891	blood:	n/a	n/a
41	POLR2A	chr21:16437006-16438525	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr21:16436464-16438468	MCF-7	breast:	n/a	n/a
43	CTCF	chr21:16437700-16437850	SAEC	small airway:	n/a	n/a
44	POLR2A	chr21:16436909-16438692	PFSK-1	brain:	n/a	n/a
45	REST	chr21:16437511-16437857	H1-hESC	embryonic stem cell:	n/a	chr21:16437700-16437720 chr21:16437707-16437720 chr21:16437711-16437720 chr21:16437704-16437717
46	ZBTB7A	chr21:16437190-16438015	K562	blood:	n/a	chr21:16437933-16437947
47	SIN3A	chr21:16436123-16438496	H1-hESC	embryonic stem cell:	n/a	chr21:16438062-16438076 chr21:16437707-16437720 chr21:16438058-16438069 chr21:16437713-16437721 chr21:16438223-16438236 chr21:16437356-16437367 chr21:16436537-16436548 chr21:16438281-16438292 chr21:16438056-16438069
48	SMARCB1	chr21:16436262-16438446	Hela-S3	cervix:	n/a	n/a
49	REST	chr21:16437297-16437935	MCF-7	breast:	n/a	chr21:16437368-16437381 chr21:16437338-16437351 chr21:16437700-16437720 chr21:16437707-16437720 chr21:16437711-16437720 chr21:16437704-16437717
50	REST	chr21:16437508-16437846	SK-N-SH	brain:	n/a	chr21:16437700-16437720 chr21:16437707-16437720 chr21:16437711-16437720 chr21:16437704-16437717

No.	Distal block	Cell Line	Cell type
1	chr21:15754870..15757296-chr21:16435942..16438083,2	K562	blood:
2	chr21:16144518..16147487-chr21:16436685..16438487,2	MCF-7	breast:
3	chr21:16349007..16350759-chr21:16437811..16439323,2	K562	blood:
4	chr21:16437341..16439300-chr21:16535726..16538232,3	MCF-7	breast:
5	chr21:16437425..16437973-chr21:16545153..16545668,2	MCF-7	breast:
6	chr21:16348130..16350759-chr21:16437449..16439323,2	K562	blood:
7	chr12:112450535..112451273-chr21:16437184..16438263,3	Hela-S3	cervix:
8	chr21:16437453..16439202-chr21:16715691..16717267,2	MCF-7	breast:
9	chr21:16331957..16335486-chr21:16435819..16438054,3	MCF-7	breast:

Variant related genes	Relation type
NRIP1	TF binding region
ENSG00000236471	TF binding region
ENSG00000225502	Chromatin interaction
ENSG00000089248	Chromatin interaction
ENSG00000198270	Chromatin interaction
ENSG00000229047	Chromatin interaction
ENSG00000155304	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv587050	chr21:16413682-16462268	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1059303	chr21:16423727-16466112	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv544379	chr21:16423727-16466112	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv3409239	chr21:16435706-16438254	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv3428786	chr21:16436131-16439129	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16429000-16439200	Active TSS	A549	lung
2	chr21:16432800-16439000	Active TSS	GM12878-XiMat	blood
3	chr21:16433000-16439200	Active TSS	Right Atrium	heart
4	chr21:16433400-16439000	Active TSS	Psoas Muscle	Psoas
5	chr21:16433800-16439000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:16433800-16439000	Active TSS	HSMM	muscle
7	chr21:16434200-16438600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:16434200-16439000	Active TSS	Rectal Smooth Muscle	rectum
9	chr21:16434400-16439000	Active TSS	Colonic Mucosa	Colon
10	chr21:16434400-16439000	Active TSS	Right Ventricle	heart
11	chr21:16434600-16438800	Active TSS	Fetal Thymus	thymus
12	chr21:16434600-16438800	Active TSS	Thymus	Thymus
13	chr21:16434600-16439000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:16434600-16439000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr21:16434600-16439000	Active TSS	Fetal Intestine Large	intestine
16	chr21:16434800-16438600	Active TSS	K562	blood
17	chr21:16434800-16438800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:16434800-16439000	Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr21:16434800-16439000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:16434800-16439000	Active TSS	Fetal Intestine Small	intestine
21	chr21:16434800-16439200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr21:16434800-16439200	Active TSS	HMEC	breast
23	chr21:16434800-16439400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:16435000-16438800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr21:16435000-16438800	Active TSS	Placenta	Placenta
26	chr21:16435000-16439000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr21:16435000-16439000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr21:16435000-16439000	Active TSS	Fetal Kidney	kidney
29	chr21:16435000-16439000	Active TSS	Fetal Stomach	stomach
30	chr21:16435000-16439000	Active TSS	Ovary	ovary
31	chr21:16435000-16439000	Active TSS	HSMMtube	muscle
32	chr21:16435000-16439200	Active TSS	Stomach Smooth Muscle	stomach
33	chr21:16435000-16439200	Active TSS	NHDF-Ad	bronchial
34	chr21:16435200-16438400	Active TSS	NH-A	brain
35	chr21:16435200-16438600	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr21:16435200-16438800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr21:16435200-16438800	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr21:16435200-16438800	Active TSS	Muscle Satellite Cultured Cells	--
39	chr21:16435200-16438800	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr21:16435200-16439000	Active TSS	Fetal Muscle Trunk	muscle
41	chr21:16435200-16439000	Active TSS	Osteobl	bone
42	chr21:16435200-16439200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr21:16435200-16439200	Active TSS	NHLF	lung
44	chr21:16435400-16438200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr21:16435400-16438200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr21:16435400-16438400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:16435400-16438600	Active TSS	Esophagus	oesophagus
48	chr21:16435400-16438800	Active TSS	Left Ventricle	heart
49	chr21:16435400-16438800	Active TSS	Lung	lung
50	chr21:16435400-16438800	Active TSS	Pancreas	Pancrea

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