Variant report

Variant	rs549886951
Chromosome Location	chr21:45668268-45668269
allele	A/G
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	chr21:45668094-45668615	GM12878	blood:	n/a	n/a
2	TCF3	chr21:45667164-45668872	GM12878	blood:	n/a	chr21:45667626-45667635 chr21:45667875-45667885 chr21:45667505-45667518 chr21:45667594-45667607 chr21:45667503-45667513 chr21:45668130-45668143
3	POLR2A	chr21:45668167-45668570	HepG2	liver:	n/a	n/a
4	MYC	chr21:45668185-45668513	NB4	blood:	n/a	chr21:45668190-45668197 chr21:45668312-45668322 chr21:45668189-45668198
5	CTCF	chr21:45668261-45668562	GM19239	blood:	n/a	n/a
6	RFX5	chr21:45667994-45668374	GM12878	blood:	n/a	n/a
7	FOXP2	chr21:45667947-45668664	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr21:45664908-45668879	Raji	blood:	n/a	n/a
9	POLR2A	chr21:45666927-45668682	GM12878	blood:	n/a	n/a
10	POLR2A	chr21:45668250-45668581	MCF-7	breast:	n/a	n/a
11	ATF2	chr21:45667764-45668642	GM12878	blood:	n/a	n/a
12	EGR1	chr21:45667998-45668481	GM12878	blood:	n/a	chr21:45668127-45668140 chr21:45668152-45668162 chr21:45668075-45668082 chr21:45668130-45668140
13	MAX	chr21:45668035-45671533	HepG2	liver:	n/a	chr21:45670641-45670656 chr21:45668190-45668197 chr21:45668312-45668322 chr21:45670637-45670647 chr21:45668189-45668198
14	POLR2A	chr21:45664912-45668896	GM12878	blood:	n/a	n/a
15	KAP1	chr21:45668204-45668750	HEK293	kidney:	n/a	n/a
16	MAZ	chr21:45667071-45668556	GM12878	blood:	n/a	chr21:45667986-45667995 chr21:45668190-45668197 chr21:45667307-45667318 chr21:45668189-45668198
17	POU2F2	chr21:45667722-45668682	GM12891	blood:	n/a	chr21:45667934-45667946 chr21:45667760-45667772
18	CEBPB	chr21:45668198-45668698	GM12878	blood:	n/a	n/a
19	TCF12	chr21:45667269-45668568	GM12878	blood:	n/a	chr21:45668133-45668143 chr21:45667682-45667690
20	RUNX3	chr21:45667682-45668686	GM12878	blood:	n/a	n/a
21	EP300	chr21:45667297-45668565	GM12878	blood:	n/a	chr21:45667986-45667995 chr21:45668525-45668534
22	TCF12	chr21:45668165-45668524	GM12878	blood:	n/a	n/a
23	POLR2A	chr21:45667812-45668754	GM12892	blood:	n/a	n/a
24	NFATC1	chr21:45667343-45668793	GM12878	blood:	n/a	n/a
25	POLR2A	chr21:45668171-45668564	MCF-7	breast:	n/a	n/a
26	EGR1	chr21:45667938-45668497	GM12878	blood:	n/a	chr21:45668127-45668140 chr21:45668152-45668162 chr21:45668075-45668082 chr21:45668130-45668140
27	STAT5A	chr21:45666953-45669176	GM12878	blood:	n/a	chr21:45667809-45667821 chr21:45668142-45668154 chr21:45667300-45667308 chr21:45667734-45667746
28	MAX	chr21:45667321-45668557	GM12878	blood:	n/a	chr21:45667986-45667995 chr21:45668190-45668197 chr21:45668312-45668322 chr21:45668189-45668198
29	POLR2A	chr21:45668242-45668270	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr21:45668260-45668410	GM12878	blood:	n/a	n/a
31	PAX5	chr21:45668243-45668560	GM12878	blood:	n/a	n/a
32	TBL1XR1	chr21:45667965-45668306	GM12878	blood:	n/a	n/a
33	MYC	chr21:45668025-45668624	GM12878	blood:	n/a	chr21:45668190-45668197 chr21:45668312-45668322 chr21:45668189-45668198
34	RELA	chr21:45667904-45668559	GM18505	blood:	n/a	n/a
35	BHLHE40	chr21:45667366-45668621	GM12878	blood:	n/a	n/a
36	USF2	chr21:45667852-45668515	GM12878	blood:	n/a	n/a
37	BHLHE40	chr21:45667790-45668546	K562	blood:	n/a	n/a
38	BCLAF1	chr21:45667789-45668626	GM12878	blood:	n/a	chr21:45668127-45668136
39	NFIC	chr21:45667882-45668700	GM12878	blood:	n/a	n/a
40	POLR2A	chr21:45668229-45668592	MCF-7	breast:	n/a	n/a
41	POU2F2	chr21:45667773-45668636	GM12878	blood:	n/a	chr21:45667934-45667946
42	POLR2A	chr21:45658587-45668327	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr21:45668199-45668537	HepG2	liver:	n/a	n/a
44	EP300	chr21:45667855-45668623	GM12878	blood:	n/a	chr21:45667986-45667995 chr21:45668525-45668534
45	POLR2A	chr21:45667480-45668684	GM12878	blood:	n/a	n/a
46	MAX	chr21:45667934-45668529	K562	blood:	n/a	chr21:45667986-45667995 chr21:45668190-45668197 chr21:45668312-45668322 chr21:45668189-45668198
47	POLR2A	chr21:45668011-45670625	NB4	blood:	n/a	n/a
48	CTCF	chr21:45668220-45668370	GM12873	blood:	n/a	n/a
49	POLR2A	chr21:45657802-45669043	PFSK-1	brain:	n/a	n/a
50	POU2F2	chr21:45667811-45668663	GM12891	blood:	n/a	chr21:45667934-45667946

No.	Distal block	Cell Line	Cell type
1	chr21:45665564..45668684-chr21:45670991..45675212,4	K562	blood:
2	chr21:45561526..45563066-chr21:45668037..45670470,2	MCF-7	breast:
3	chr21:45615502..45617869-chr21:45667459..45670293,2	K562	blood:
4	chr21:45553033..45555286-chr21:45666836..45668828,2	MCF-7	breast:
5	chr21:45567022..45569875-chr21:45667189..45669320,3	MCF-7	breast:
6	chr21:45610778..45612309-chr21:45667999..45669878,2	MCF-7	breast:
7	chr21:45667021..45669149-chr21:45714307..45715879,2	MCF-7	breast:
8	chr21:45622485..45624278-chr21:45668242..45670471,2	MCF-7	breast:
9	chr21:45667184..45669344-chr21:45671448..45673018,2	K562	blood:
10	chr21:45620311..45631567-chr21:45651002..45670824,52	MCF-7	breast:
11	chr21:45661313..45662834-chr21:45667668..45669826,2	K562	blood:
12	chr21:45557344..45559902-chr21:45666476..45668676,2	MCF-7	breast:
13	chr21:45667662..45673123-chr21:45716367..45722484,9	MCF-7	breast:
14	chr21:45658347..45670658-chr21:45718073..45723358,28	MCF-7	breast:
15	chr21:45604092..45606788-chr21:45665830..45668465,2	MCF-7	breast:
16	chr21:45667126..45669380-chr21:45704242..45707201,2	MCF-7	breast:
17	chr21:45666127..45668389-chr21:45719214..45721202,2	K562	blood:
18	chr21:45612553..45615742-chr21:45666296..45670643,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232010	TF binding region
ENSG00000160224	Chromatin interaction
ENSG00000232698	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000232124	Chromatin interaction
ENSG00000142182	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
9	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
10	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
11	nsv913902	chr21:45615741-45709153	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv459295	chr21:45629565-45849864	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
13	nsv587740	chr21:45629565-45849864	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
14	nsv913904	chr21:45636881-45700641	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv913905	chr21:45640629-45696025	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	nsv913906	chr21:45657970-45818609	Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
17	nsv531555	chr21:45665972-45757659	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
18	nsv526276	chr21:45668171-45670770	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv587741	chr21:45668171-45683350	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv587742	chr21:45668171-45703660	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv913907	chr21:45668171-45740823	Bivalent/Poised TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45662800-45705600	Weak transcription	Right Atrium	heart
2	chr21:45663600-45670400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr21:45663800-45668400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr21:45663800-45668400	Enhancers	HepG2	liver
5	chr21:45663800-45669600	Enhancers	Fetal Intestine Large	intestine
6	chr21:45664000-45671800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:45664400-45668400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr21:45664600-45669400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr21:45664600-45669800	Enhancers	Primary B cells from peripheral blood	blood
10	chr21:45665200-45668400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr21:45665200-45669000	Enhancers	Primary B cells from cord blood	blood
12	chr21:45665600-45669400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr21:45665600-45670400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr21:45665800-45669400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr21:45666000-45669200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr21:45666200-45681000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr21:45666400-45669600	Enhancers	Fetal Intestine Small	intestine
18	chr21:45666600-45669600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr21:45666600-45669600	Enhancers	Fetal Thymus	thymus
20	chr21:45666800-45669600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr21:45666800-45670000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:45667000-45668400	Flanking Active TSS	GM12878-XiMat	blood
23	chr21:45667000-45669200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr21:45667000-45669200	Enhancers	Duodenum Mucosa	Duodenum
25	chr21:45667000-45670800	Enhancers	Esophagus	oesophagus
26	chr21:45667200-45668400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr21:45667200-45668400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr21:45667400-45670000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr21:45667400-45670200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr21:45667400-45670200	Bivalent Enhancer	Colonic Mucosa	Colon
31	chr21:45667400-45670400	Bivalent Enhancer	Placenta	Placenta
32	chr21:45667600-45668400	Genic enhancers	Spleen	Spleen
33	chr21:45667800-45668600	Bivalent Enhancer	K562	blood
34	chr21:45667800-45668800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:45667800-45669800	Enhancers	HSMMtube	muscle
36	chr21:45667800-45670000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr21:45667800-45670600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr21:45668000-45668600	Enhancers	Hela-S3	cervix
39	chr21:45668000-45669200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr21:45668000-45671000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr21:45668200-45668600	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
42	chr21:45668200-45668600	Enhancers	Lung	lung
43	chr21:45668200-45668800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr21:45668200-45668800	Bivalent Enhancer	HSMM	muscle
45	chr21:45668200-45669200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr21:45668200-45669200	Flanking Active TSS	Liver	Liver
47	chr21:45668200-45669800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr21:45668200-45670000	Enhancers	Gastric	stomach
49	chr21:45668200-45670200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
50	chr21:45668200-45670200	Bivalent Enhancer	Stomach Mucosa	stomach

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