Variant report

Variant	rs181738278
Chromosome Location	chr21:40684090-40684091
allele	A/C
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	TBL1XR1	chr21:40683908-40684601	K562	blood:	n/a	n/a
2	GATA3	chr21:40683869-40684721	SK-N-SH	brain:	n/a	n/a
3	GATA2	chr21:40683940-40684445	HUVEC	blood vessel:	n/a	n/a
4	TBP	chr21:40684025-40684539	GM12878	blood:	n/a	n/a
5	GATA3	chr21:40683843-40684644	SK-N-SH	brain:	n/a	n/a
6	HEY1	chr21:40684072-40684844	K562	blood:	n/a	n/a
7	SIN3AK20	chr21:40684015-40687111	MCF-7	breast:	n/a	n/a
8	MXI1	chr21:40683978-40684684	GM12878	blood:	n/a	n/a
9	SMC3	chr21:40684026-40684378	K562	blood:	n/a	n/a
10	REST	chr21:40683818-40686869	H1-neurons	neurons:	n/a	chr21:40685323-40685336
11	GATA3	chr21:40683901-40684805	MCF-7	breast:	n/a	n/a
12	MAZ	chr21:40683918-40684739	HepG2	liver:	n/a	n/a
13	SREBP2	chr21:40683625-40684860	GM12878	blood:	n/a	n/a
14	POLR2A	chr21:40682578-40684658	K562	blood:	n/a	n/a
15	NFYA	chr21:40684078-40684623	Hela-S3	cervix:	n/a	chr21:40684389-40684404 chr21:40684389-40684403 chr21:40684389-40684407 chr21:40684389-40684404
16	MAFK	chr21:40684018-40684465	K562	blood:	n/a	n/a
17	GATA3	chr21:40683810-40684366	SH-SY5Y	brain:	n/a	n/a
18	MAZ	chr21:40683896-40686930	IMR90	lung:	n/a	chr21:40685337-40685347 chr21:40685086-40685096
19	SP1	chr21:40684079-40684679	K562	blood:	n/a	chr21:40684390-40684411 chr21:40684472-40684482 chr21:40684371-40684380 chr21:40684472-40684482
20	BACH1	chr21:40683959-40684349	K562	blood:	n/a	n/a
21	RFX5	chr21:40683572-40684862	SK-N-SH	brain:	n/a	chr21:40684392-40684401
22	POLR2A	chr21:40683932-40684597	GM12878	blood:	n/a	n/a
23	IRF1	chr21:40683984-40684675	K562	blood:	n/a	n/a
24	TBL1XR1	chr21:40683994-40684662	GM12878	blood:	n/a	n/a
25	RCOR1	chr21:40684054-40684520	K562	blood:	n/a	n/a
26	GATA2	chr21:40683994-40684449	K562	blood:	n/a	n/a
27	MAZ	chr21:40684045-40686817	K562	blood:	n/a	chr21:40685337-40685347 chr21:40685086-40685096
28	GATA3	chr21:40683952-40684356	T-47D	breast:	n/a	n/a
29	NRF1	chr21:40683924-40684624	K562	blood:	n/a	n/a
30	CBX3	chr21:40684026-40684650	K562	blood:	n/a	n/a
31	POLR2A	chr21:40684072-40686995	H1-hESC	embryonic stem cell:	n/a	n/a
32	GATA2	chr21:40684012-40684478	SH-SY5Y	brain:	n/a	n/a
33	NRF1	chr21:40683739-40684681	SK-N-SH	brain:	n/a	n/a
34	GATA1	chr21:40683837-40684607	PBDE	blood:	n/a	n/a
35	EGR1	chr21:40684083-40684726	HCT-116	colon:	n/a	chr21:40684474-40684487 chr21:40684475-40684485 chr21:40684443-40684450 chr21:40684475-40684486 chr21:40684473-40684488 chr21:40684474-40684487 chr21:40684475-40684484 chr21:40684471-40684485
36	NFYB	chr21:40684079-40684638	GM12878	blood:	n/a	chr21:40684389-40684404 chr21:40684389-40684403 chr21:40684389-40684404 chr21:40684386-40684401
37	SP1	chr21:40684061-40684712	H1-hESC	embryonic stem cell:	n/a	chr21:40684390-40684411 chr21:40684472-40684482 chr21:40684371-40684380 chr21:40684472-40684482
38	MAFF	chr21:40684073-40684362	K562	blood:	n/a	chr21:40684271-40684285
39	CTCF	chr21:40684075-40684404	K562	blood:	n/a	n/a
40	GATA3	chr21:40683988-40684311	MCF-7	breast:	n/a	n/a
41	MYC	chr21:40683733-40684653	K562	blood:	n/a	n/a
42	SP1	chr21:40684027-40684887	HCT-116	colon:	n/a	chr21:40684390-40684411 chr21:40684472-40684482 chr21:40684371-40684380 chr21:40684472-40684482
43	GATA3	chr21:40684007-40684684	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:40683319..40690926-chr21:40755872..40762716,23	MCF-7	breast:
2	chr21:40672762..40675001-chr21:40682440..40684098,2	K562	blood:
3	chr21:40682124..40685118-chr21:40763752..40765296,2	K562	blood:
4	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
5	chr21:40683717..40685708-chr21:40747929..40750593,3	MCF-7	breast:
6	chr21:40645055..40648656-chr21:40680491..40684092,3	K562	blood:
7	chr21:40683837..40687545-chr21:40816624..40819639,6	K562	blood:
8	chr21:40681416..40687854-chr21:40744378..40751195,8	K562	blood:
9	chr1:204379398..204382038-chr21:40683560..40686325,2	MCF-7	breast:
10	chr21:40554270..40557456-chr21:40682408..40685088,3	K562	blood:
11	chr21:40683876..40687631-chr21:40749667..40753921,6	K562	blood:
12	chr21:40683271..40692626-chr21:40743960..40754349,22	MCF-7	breast:
13	chr21:40683731..40685549-chr21:40816150..40817682,2	MCF-7	breast:
14	chr21:40683646..40687466-chr21:40813293..40816602,5	MCF-7	breast:
15	chr21:40550424..40553042-chr21:40683249..40686279,3	K562	blood:
16	chr21:40682856..40693378-chr21:40754350..40765471,56	MCF-7	breast:
17	chr21:40683489..40689074-chr21:40750757..40754639,9	MCF-7	breast:
18	chr21:40683507..40684404-chr21:40721331..40722058,2	MCF-7	breast:
19	chr21:40591760..40593585-chr21:40682186..40684474,2	K562	blood:
20	chr21:40668014..40669940-chr21:40681557..40684495,2	K562	blood:
21	chr21:40553454..40557456-chr21:40682892..40687176,12	K562	blood:

Variant related genes	Relation type
BRWD1-AS1	TF binding region
ENSG00000272991	Chromatin interaction
ENSG00000252915	Chromatin interaction
ENSG00000238556	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000227406	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000158615	Chromatin interaction
ENSG00000205581	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv3429298	chr21:40670131-40688774	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	esv3439649	chr21:40683507-40687455	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr21:40643800-40684200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:40664000-40684200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr21:40665200-40684400	Weak transcription	Colonic Mucosa	Colon
4	chr21:40667000-40684200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr21:40669200-40684200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr21:40669400-40684400	Weak transcription	Esophagus	oesophagus
7	chr21:40672600-40684400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:40673600-40684400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:40673600-40684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr21:40675800-40684200	Weak transcription	Pancreas	Pancrea
11	chr21:40675800-40684400	Weak transcription	Gastric	stomach
12	chr21:40675800-40684400	Weak transcription	Spleen	Spleen
13	chr21:40681400-40684200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr21:40683400-40684200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr21:40683400-40684200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:40683400-40684200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:40683400-40684200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr21:40683400-40684200	Weak transcription	Left Ventricle	heart
19	chr21:40683400-40684200	Weak transcription	Ovary	ovary
20	chr21:40683400-40684200	Weak transcription	Psoas Muscle	Psoas
21	chr21:40683400-40684400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:40683400-40684400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:40683400-40684400	Weak transcription	Lung	lung
24	chr21:40683400-40684400	Enhancers	Stomach Mucosa	stomach
25	chr21:40683600-40684200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:40683600-40684200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr21:40683600-40684400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:40683600-40686600	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr21:40683800-40684200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
30	chr21:40683800-40684200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
31	chr21:40683800-40684200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr21:40683800-40684200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr21:40683800-40684200	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
34	chr21:40683800-40684200	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr21:40683800-40684200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr21:40683800-40684200	Flanking Active TSS	Fetal Brain Female	brain
37	chr21:40683800-40684200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr21:40683800-40684200	Weak transcription	Placenta	Placenta
39	chr21:40683800-40684200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr21:40683800-40684200	Transcr. at gene 5' and 3'	Dnd41	blood
41	chr21:40683800-40684200	Flanking Active TSS	GM12878-XiMat	blood
42	chr21:40683800-40684200	Transcr. at gene 5' and 3'	Hela-S3	cervix
43	chr21:40683800-40684200	Transcr. at gene 5' and 3'	HepG2	liver
44	chr21:40683800-40684200	Transcr. at gene 5' and 3'	HMEC	breast
45	chr21:40683800-40684400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
46	chr21:40683800-40684400	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr21:40683800-40684400	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr21:40683800-40684400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr21:40683800-40684400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr21:40683800-40684400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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