Variant report

Variant	rs35376476
Chromosome Location	chr21:45284015-45284016
allele	-/A
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	chr21:45284013-45284627	HCT-116	colon:	n/a	n/a
2	POLR2A	chr21:45283967-45284609	HCT-116	colon:	n/a	n/a
3	MAX	chr21:45284009-45284656	A549	lung:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
4	PBX3	chr21:45284008-45284563	A549	lung:	n/a	n/a
5	HEY1	chr21:45284001-45284640	K562	blood:	n/a	chr21:45284488-45284503 chr21:45284428-45284437 chr21:45284195-45284210 chr21:45284464-45284479
6	STAT5A	chr21:45283970-45284581	GM12878	blood:	n/a	n/a
7	MAX	chr21:45283965-45284718	ECC-1	luminal epithelium:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
8	ZBTB7A	chr21:45283840-45284696	ECC-1	luminal epithelium:	n/a	n/a
9	MXI1	chr21:45284005-45284649	IMR90	lung:	n/a	n/a
10	MAX	chr21:45284009-45284670	A549	lung:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
11	TCF12	chr21:45284015-45284696	ECC-1	luminal epithelium:	n/a	n/a
12	HA-E2F1	chr21:45283914-45284453	MCF-7	breast:	n/a	n/a
13	PML	chr21:45283959-45284405	MCF-7	breast:	n/a	n/a
14	POLR2A	chr21:45284009-45284449	GM12891	blood:	n/a	n/a
15	MXI1	chr21:45283199-45286803	SK-N-SH	brain:	n/a	n/a
16	E2F6	chr21:45283985-45284581	H1-hESC	embryonic stem cell:	n/a	chr21:45284553-45284560 chr21:45284551-45284561 chr21:45284553-45284560 chr21:45284550-45284561 chr21:45284553-45284560 chr21:45284552-45284560 chr21:45284549-45284560 chr21:45284552-45284560 chr21:45284552-45284561
17	ZEB1	chr21:45283950-45284646	GM12878	blood:	n/a	n/a
18	POLR2A	chr21:45283964-45284616	GM12892	blood:	n/a	n/a
19	POLR2A	chr21:45283936-45285395	ProgFib	skin:	n/a	n/a
20	POLR2A	chr21:45283977-45284558	K562	blood:	n/a	n/a
21	MAX	chr21:45283959-45284651	MCF-7	breast:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
22	POLR2A	chr21:45283995-45284667	GM12878	blood:	n/a	n/a
23	POLR2A	chr21:45283919-45284641	GM12892	blood:	n/a	n/a
24	REST	chr21:45283971-45284544	H1-neurons	neurons:	n/a	chr21:45284174-45284187 chr21:45284265-45284274
25	ZBTB7A	chr21:45283969-45284756	ECC-1	luminal epithelium:	n/a	n/a
26	TAF1	chr21:45283986-45284646	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr21:45283898-45284625	SK-N-MC	brain:	n/a	n/a
28	SIN3AK20	chr21:45283958-45284613	MCF-7	breast:	n/a	n/a
29	PML	chr21:45283893-45284611	GM12878	blood:	n/a	n/a
30	POLR2A	chr21:45284004-45285446	MCF-7	breast:	n/a	n/a
31	MAX	chr21:45283999-45284726	HCT-116	colon:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
32	POLR2A	chr21:45283993-45284579	SK-N-SH	brain:	n/a	n/a
33	PBX3	chr21:45283974-45284673	SK-N-SH	brain:	n/a	n/a
34	ZNF384	chr21:45283838-45284393	K562	blood:	n/a	n/a
35	POLR2A	chr21:45283942-45284623	MCF10A-Er-Src	breast:	n/a	n/a
36	BCLAF1	chr21:45284000-45284450	GM12878	blood:	n/a	chr21:45284332-45284345 chr21:45284166-45284179 chr21:45284314-45284327 chr21:45284170-45284183
37	RAD21	chr21:45284001-45284416	H1-hESC	embryonic stem cell:	n/a	chr21:45284170-45284184
38	NR2F2	chr21:45283990-45284783	MCF-7	breast:	n/a	n/a
39	NFIC	chr21:45283942-45284655	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr21:45283963-45284584	ECC-1	luminal epithelium:	n/a	n/a
41	PML	chr21:45283933-45284453	K562	blood:	n/a	n/a
42	POLR2A	chr21:45283997-45287045	K562	blood:	n/a	n/a
43	HEY1	chr21:45283994-45284628	K562	blood:	n/a	chr21:45284488-45284503 chr21:45284428-45284437 chr21:45284195-45284210 chr21:45284464-45284479
44	MAX	chr21:45283967-45284763	HCT-116	colon:	n/a	chr21:45284427-45284438 chr21:45284428-45284438 chr21:45284430-45284439 chr21:45284429-45284436 chr21:45284428-45284437
45	ZEB1	chr21:45283872-45284671	HepG2	liver:	n/a	n/a
46	POLR2A	chr21:45283960-45284651	MCF-7	breast:	n/a	n/a
47	POLR2A	chr21:45284014-45284636	K562	blood:	n/a	n/a
48	GABPA	chr21:45283990-45284404	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr21:45284013-45284591	Hela-S3	cervix:	n/a	n/a
50	NFIC	chr21:45283982-45284554	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45282912..45284880-chr21:45350407..45353939,3	K562	blood:
2	chr21:45283298..45287513-chr21:45338855..45343382,5	K562	blood:
3	chr21:45283616..45286882-chr21:45299913..45305661,6	MCF-7	breast:
4	chr21:45281617..45284138-chr21:45284201..45287466,4	MCF-7	breast:
5	chr21:45282036..45289054-chr21:45334704..45338842,9	K562	blood:
6	chr21:45282600..45286741-chr21:45429139..45433009,5	MCF-7	breast:
7	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
8	chr21:45228592..45232844-chr21:45283509..45286625,5	MCF-7	breast:
9	chr21:45283663..45287678-chr21:45338795..45345768,12	K562	blood:
10	chr21:45240125..45242679-chr21:45283332..45285060,2	MCF-7	breast:
11	chr21:45283737..45286588-chr21:45430466..45433524,3	K562	blood:
12	chr21:45282912..45284880-chr21:45350407..45352499,2	K562	blood:
13	chr21:45282965..45285916-chr21:45430237..45433854,8	MCF-7	breast:

Variant related genes	Relation type
AGPAT3	TF binding region
ENSG00000199598	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000215458	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	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
6	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv3538	chr21:45267674-45297159	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3389400	chr21:45283349-45286397	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv3438548	chr21:45283674-45286522	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45280800-45284200	Weak transcription	Brain Substantia Nigra	brain
2	chr21:45281000-45284200	Weak transcription	Gastric	stomach
3	chr21:45281600-45284200	Weak transcription	Lung	lung
4	chr21:45282000-45284200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr21:45282000-45284200	Weak transcription	Pancreas	Pancrea
6	chr21:45283400-45284200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr21:45283400-45284200	Flanking Active TSS	GM12878-XiMat	blood
8	chr21:45283400-45284400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr21:45283400-45285600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr21:45283600-45284200	Flanking Active TSS	Fetal Intestine Small	intestine
11	chr21:45283600-45284200	Enhancers	Osteobl	bone
12	chr21:45283600-45284400	Enhancers	Placenta	Placenta
13	chr21:45283600-45284600	Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr21:45283600-45286400	Active TSS	Fetal Brain Female	brain
15	chr21:45283800-45284200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr21:45283800-45284200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:45283800-45284200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr21:45283800-45284200	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr21:45283800-45284400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr21:45283800-45284400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr21:45283800-45284400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr21:45283800-45284400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr21:45283800-45284600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr21:45283800-45284600	Active TSS	Primary T cells from cord blood	blood
25	chr21:45283800-45284600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:45283800-45285800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr21:45283800-45286000	Active TSS	Hela-S3	cervix
28	chr21:45283800-45287200	Active TSS	HepG2	liver
29	chr21:45284000-45284200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr21:45284000-45284200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr21:45284000-45284200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr21:45284000-45284200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr21:45284000-45284200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
34	chr21:45284000-45284200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr21:45284000-45284200	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr21:45284000-45284200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr21:45284000-45284200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr21:45284000-45284200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr21:45284000-45284200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr21:45284000-45284200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr21:45284000-45284200	Enhancers	Liver	Liver
42	chr21:45284000-45284200	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr21:45284000-45284200	Enhancers	Esophagus	oesophagus
44	chr21:45284000-45284200	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr21:45284000-45284200	Enhancers	Fetal Lung	lung
46	chr21:45284000-45284200	Flanking Active TSS	Fetal Muscle Trunk	muscle
47	chr21:45284000-45284200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
48	chr21:45284000-45284200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr21:45284000-45284200	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr21:45284000-45284200	Active TSS	Right Atrium	heart

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