Variant report

Variant	rs74028223
Chromosome Location	chr16:74330999-74331000
allele	A/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	PAX5	chr16:74330455-74331064	GM12892	blood:	n/a	chr16:74330718-74330727
2	GABPA	chr16:74329901-74331291	SK-N-SH	brain:	n/a	chr16:74331231-74331240
3	MYC	chr16:74329977-74331512	NB4	blood:	n/a	chr16:74330451-74330461
4	POLR2A	chr16:74329920-74331642	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr16:74329684-74331696	HepG2	liver:	n/a	n/a
6	TAL1	chr16:74329837-74331777	K562	blood:	n/a	n/a
7	POLR2A	chr16:74329566-74331870	GM12878	blood:	n/a	n/a
8	POLR2A	chr16:74330312-74331153	MCF-7	breast:	n/a	n/a
9	POLR2A	chr16:74329689-74331692	GM19099	blood:	n/a	n/a
10	MYC	chr16:74330018-74331419	K562	blood:	n/a	chr16:74330451-74330461
11	SP1	chr16:74330030-74331094	A549	lung:	n/a	n/a
12	GABPA	chr16:74329983-74331328	MCF-7	breast:	n/a	chr16:74331231-74331240
13	BHLHE40	chr16:74330157-74331462	GM12878	blood:	n/a	chr16:74331069-74331085 chr16:74331063-74331079
14	POLR2A	chr16:74329895-74331879	U87	brain:	n/a	n/a
15	TCF7L2	chr16:74330367-74331295	Hela-S3	cervix:	n/a	n/a
16	RFX5	chr16:74329745-74331077	Hela-S3	cervix:	n/a	n/a
17	EP300	chr16:74329629-74331117	K562	blood:	n/a	chr16:74330957-74330966 chr16:74330435-74330445 chr16:74330910-74330919
18	POLR2A	chr16:74330334-74331132	H1-hESC	embryonic stem cell:	n/a	n/a
19	GABPA	chr16:74330324-74331076	HepG2	liver:	n/a	n/a
20	HMGN3	chr16:74330485-74331132	K562	blood:	n/a	chr16:74330930-74330939
21	TBP	chr16:74329781-74331008	Hela-S3	cervix:	n/a	n/a
22	PML	chr16:74330037-74331593	K562	blood:	n/a	n/a
23	POLR2A	chr16:74330360-74331129	A549	lung:	n/a	n/a
24	GATA3	chr16:74330336-74331116	MCF-7	breast:	n/a	chr16:74330983-74330991
25	UBTF	chr16:74330159-74331065	K562	blood:	n/a	n/a
26	TEAD4	chr16:74329959-74331552	K562	blood:	n/a	n/a
27	POU2F2	chr16:74330306-74330999	GM12891	blood:	n/a	chr16:74330447-74330459
28	TAF1	chr16:74330410-74331135	HepG2	liver:	n/a	n/a
29	MAX	chr16:74330029-74331167	Hela-S3	cervix:	n/a	chr16:74330451-74330461
30	MYC	chr16:74330754-74331000	MCF-7	breast:	n/a	n/a
31	MYC	chr16:74329957-74331769	K562	blood:	n/a	chr16:74330451-74330461
32	FOXM1	chr16:74330488-74331160	GM12878	blood:	n/a	n/a
33	REST	chr16:74329766-74331093	A549	lung:	n/a	chr16:74331065-74331078
34	ETS1	chr16:74330394-74331164	K562	blood:	n/a	chr16:74330707-74330716 chr16:74330708-74330717
35	TAF1	chr16:74330155-74331046	GM12891	blood:	n/a	n/a
36	POLR2A	chr16:74329862-74331888	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr16:74329705-74331686	GM18505	blood:	n/a	n/a
38	POLR2A	chr16:74329863-74331696	K562	blood:	n/a	n/a
39	TAF1	chr16:74330029-74331110	A549	lung:	n/a	n/a
40	MAFK	chr16:74330641-74331423	HepG2	liver:	n/a	chr16:74330927-74330936 chr16:74330927-74330937
41	POLR2A	chr16:74330202-74331017	HCT-116	colon:	n/a	n/a
42	POLR2A	chr16:74329924-74331797	GM12892	blood:	n/a	n/a
43	EP300	chr16:74330064-74331302	HepG2	liver:	n/a	chr16:74330957-74330966 chr16:74330435-74330445 chr16:74330910-74330919
44	NFIC	chr16:74330013-74331001	HepG2	liver:	n/a	chr16:74330762-74330790
45	FOXP2	chr16:74330442-74331066	PFSK-1	brain:	n/a	n/a
46	MAX	chr16:74330022-74331211	H1-hESC	embryonic stem cell:	n/a	chr16:74330451-74330461
47	BHLHE40	chr16:74329857-74331302	K562	blood:	n/a	chr16:74331069-74331085 chr16:74331063-74331079
48	NR2F2	chr16:74330114-74331633	K562	blood:	n/a	chr16:74330995-74331010
49	SIN3AK20	chr16:74329805-74332642	MCF-7	breast:	n/a	n/a
50	POLR2A	chr16:74329854-74331613	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71878006..71880307-chr16:74330687..74332965,2	MCF-7	breast:
2	chr16:73090588..73093412-chr16:74330617..74333727,3	MCF-7	breast:
3	chr16:74330610..74331272-chr17:73775366..73776115,2	Hela-S3	cervix:
4	chr16:74330520..74332814-chr5:176980285..176982453,2	MCF-7	breast:
5	chr16:74330218..74331932-chr17:56768281..56770870,2	MCF-7	breast:
6	chr16:74315898..74319035-chr16:74328257..74331798,3	MCF-7	breast:
7	chr16:74329306..74331523-chr16:74400690..74402975,2	MCF-7	breast:
8	chr16:74312086..74314734-chr16:74330934..74333737,2	K562	blood:
9	chr16:74328724..74332172-chr16:74639853..74642931,3	MCF-7	breast:
10	chr16:74316224..74318585-chr16:74330462..74332814,2	K562	blood:

Variant related genes	Relation type
ENSG00000261404	TF binding region
ENSG00000272459	Chromatin interaction
ENSG00000121101	Chromatin interaction
ENSG00000108384	Chromatin interaction
ENSG00000214331	Chromatin interaction
ENSG00000090863	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000146067	Chromatin interaction
ENSG00000261079	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000261248	Chromatin interaction
ENSG00000140836	Chromatin interaction
ENSG00000182149	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1035556	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1424082	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973123	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973136	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973140	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973142	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973145	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973215	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973219	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973221	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28665623	1.00[AMR][1000 genomes]
rs34851911	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55691458	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55788378	1.00[AMR][1000 genomes]
rs55860657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55889043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55893911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55956711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56006357	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56009394	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56080833	1.00[AMR][1000 genomes]
rs56127651	1.00[AMR][1000 genomes]
rs56137950	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56162758	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56249592	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56357740	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57064320	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57434281	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57626795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57748335	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57767846	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57955264	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58057667	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59467060	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60441343	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60674476	1.00[AMR][1000 genomes]
rs60816175	1.00[AMR][1000 genomes]
rs60876698	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187207	1.00[AMR][1000 genomes]
rs7194713	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195195	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202368	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7203106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7204563	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7204648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7205537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028203	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028205	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028214	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028226	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028228	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028235	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028236	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028237	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74028239	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030827	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030828	0.94[AFR][1000 genomes]
rs74030830	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030831	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030847	1.00[AMR][1000 genomes]
rs74030854	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030865	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030870	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74030872	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047786	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906900	chr16:73650853-74349043	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv906901	chr16:73752982-74455293	Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3505286	chr16:73985029-74382420	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv3505287	chr16:73985029-74382420	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv948443	chr16:73994997-74627711	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1066212	chr16:74068470-74527133	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv542954	chr16:74068470-74527133	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1065964	chr16:74088091-74575604	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv930993	chr16:74147464-74356710	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv1058208	chr16:74160074-74359324	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv1056525	chr16:74186756-74356711	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv542955	chr16:74186756-74356711	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv1055180	chr16:74189820-74359324	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	nsv917046	chr16:74202828-74406136	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
15	nsv833276	chr16:74216065-74438868	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 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	chr16:74329200-74332200	Active TSS	GM12878-XiMat	blood
2	chr16:74329400-74331400	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr16:74329400-74332200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:74329400-74332200	Active TSS	Psoas Muscle	Psoas
5	chr16:74329600-74331000	Active TSS	Fetal Intestine Small	intestine
6	chr16:74329600-74331200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
7	chr16:74329600-74331400	Active TSS	Colonic Mucosa	Colon
8	chr16:74329600-74331400	Active TSS	Fetal Brain Male	brain
9	chr16:74329600-74331800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:74329600-74331800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:74329600-74331800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr16:74329600-74332000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr16:74329600-74332000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr16:74329600-74332000	Active TSS	Muscle Satellite Cultured Cells	--
15	chr16:74329600-74332200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr16:74329600-74332200	Active TSS	HSMMtube	muscle
17	chr16:74329600-74332200	Active TSS	NHLF	lung
18	chr16:74329800-74331000	Active TSS	Primary T cells fromperipheralblood	blood
19	chr16:74329800-74331200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr16:74329800-74331400	Active TSS	Fetal Muscle Trunk	muscle
21	chr16:74329800-74331400	Active TSS	Fetal Stomach	stomach
22	chr16:74329800-74331400	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr16:74329800-74331600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr16:74329800-74331600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:74329800-74331600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr16:74329800-74331600	Active TSS	Colon Smooth Muscle	Colon
27	chr16:74329800-74331600	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr16:74329800-74331600	Active TSS	A549	lung
29	chr16:74329800-74331800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr16:74329800-74331800	Active TSS	Ovary	ovary
31	chr16:74329800-74331800	Active TSS	Placenta Amnion	Placenta Amnion
32	chr16:74329800-74332000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:74329800-74332000	Active TSS	Fetal Kidney	kidney
34	chr16:74329800-74332200	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr16:74329800-74332200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr16:74329800-74332200	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr16:74329800-74332200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:74329800-74332200	Active TSS	Right Ventricle	heart
39	chr16:74329800-74332800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr16:74330000-74331200	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr16:74330000-74331200	Active TSS	Primary B cells from peripheral blood	blood
42	chr16:74330000-74331200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr16:74330000-74331200	Active TSS	Brain Angular Gyrus	brain
44	chr16:74330000-74331400	Active TSS	Primary T cells from cord blood	blood
45	chr16:74330000-74331400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr16:74330000-74331400	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr16:74330000-74331400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr16:74330000-74331400	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr16:74330000-74331400	Active TSS	Liver	Liver
50	chr16:74330000-74331400	Active TSS	Brain Anterior Caudate	brain

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