Variant report

Variant	rs16973178
Chromosome Location	chr16:74330261-74330262
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	EP300	chr16:74330171-74330931	A549	lung:	n/a	chr16:74330435-74330445 chr16:74330910-74330919
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	EP300	chr16:74329871-74330982	GM12878	blood:	n/a	chr16:74330957-74330966 chr16:74330435-74330445 chr16:74330910-74330919
5	POLR2A	chr16:74329920-74331642	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr16:74329684-74331696	HepG2	liver:	n/a	n/a
7	TAL1	chr16:74329837-74331777	K562	blood:	n/a	n/a
8	GTF2F1	chr16:74330147-74330998	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr16:74329566-74331870	GM12878	blood:	n/a	n/a
10	POLR2A	chr16:74329689-74331692	GM19099	blood:	n/a	n/a
11	MYC	chr16:74330018-74331419	K562	blood:	n/a	chr16:74330451-74330461
12	SP1	chr16:74330030-74331094	A549	lung:	n/a	n/a
13	GABPA	chr16:74329983-74331328	MCF-7	breast:	n/a	chr16:74331231-74331240
14	BHLHE40	chr16:74330157-74331462	GM12878	blood:	n/a	chr16:74331069-74331085 chr16:74331063-74331079
15	FOXA1	chr16:74330168-74330702	T-47D	breast:	n/a	chr16:74330430-74330445
16	POLR2A	chr16:74329895-74331879	U87	brain:	n/a	n/a
17	ZKSCAN1	chr16:74329992-74330995	Hela-S3	cervix:	n/a	n/a
18	RFX5	chr16:74329745-74331077	Hela-S3	cervix:	n/a	n/a
19	GTF3C2	chr16:74329830-74330414	Hela-S3	cervix:	n/a	n/a
20	EP300	chr16:74329629-74331117	K562	blood:	n/a	chr16:74330957-74330966 chr16:74330435-74330445 chr16:74330910-74330919
21	CEBPB	chr16:74329953-74330383	K562	blood:	n/a	chr16:74330308-74330319 chr16:74330306-74330318
22	CBX3	chr16:74330112-74330746	K562	blood:	n/a	chr16:74330427-74330438
23	SP1	chr16:74330016-74330952	A549	lung:	n/a	n/a
24	STAT3	chr16:74329634-74330776	GM12878	blood:	n/a	chr16:74329837-74329844
25	TBP	chr16:74329781-74331008	Hela-S3	cervix:	n/a	n/a
26	PML	chr16:74330037-74331593	K562	blood:	n/a	n/a
27	UBTF	chr16:74330159-74331065	K562	blood:	n/a	n/a
28	TEAD4	chr16:74329959-74331552	K562	blood:	n/a	n/a
29	EP300	chr16:74330118-74330868	GM12878	blood:	n/a	chr16:74330435-74330445
30	MAX	chr16:74330029-74331167	Hela-S3	cervix:	n/a	chr16:74330451-74330461
31	USF2	chr16:74330196-74330838	GM12878	blood:	n/a	n/a
32	MYC	chr16:74329957-74331769	K562	blood:	n/a	chr16:74330451-74330461
33	E2F6	chr16:74330219-74330897	A549	lung:	n/a	chr16:74330590-74330601
34	REST	chr16:74329766-74331093	A549	lung:	n/a	chr16:74331065-74331078
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	POLR2A	chr16:74330202-74331017	HCT-116	colon:	n/a	n/a
41	POLR2A	chr16:74329924-74331797	GM12892	blood:	n/a	n/a
42	BCLAF1	chr16:74329997-74330968	GM12878	blood:	n/a	chr16:74330918-74330931 chr16:74330955-74330968 chr16:74330954-74330967 chr16:74330953-74330962 chr16:74330648-74330661
43	MAX	chr16:74330123-74330944	H1-hESC	embryonic stem cell:	n/a	chr16:74330451-74330461
44	EP300	chr16:74330064-74331302	HepG2	liver:	n/a	chr16:74330957-74330966 chr16:74330435-74330445 chr16:74330910-74330919
45	NFIC	chr16:74330013-74331001	HepG2	liver:	n/a	chr16:74330762-74330790
46	POLR2A	chr16:74330141-74330984	SK-N-MC	brain:	n/a	n/a
47	CTCF	chr16:74330220-74330370	GM12873	blood:	n/a	chr16:74330222-74330230 chr16:74330221-74330229
48	MAX	chr16:74330022-74331211	H1-hESC	embryonic stem cell:	n/a	chr16:74330451-74330461
49	ARID3A	chr16:74329965-74330980	HepG2	liver:	n/a	n/a
50	POLR2A	chr16:74330188-74330975	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:74330236-74330286	AoSMC	blood vessel:	n/a
2	chr16:74330236-74330286	H1-hESC	embryonic stem cell:	embryo
3	chr16:74330236-74330286	K562	blood:	n/a
4	chr16:74330236-74330286	NHBE	bronchial:	n/a
5	chr16:74330236-74330286	HCM	heart:	n/a
6	chr16:74330236-74330286	HCT-116	colon:	n/a
7	chr16:74330236-74330286	BE2_C	brain:	n/a
8	chr16:74330236-74330286	HPAEpiC	pulmonary alveolar:	n/a
9	chr16:74330236-74330286	LNCaP	prostate:	n/a
10	chr16:74330236-74330286	HAEpiC	amniotic membrane:	n/a
11	chr16:74330236-74330286	Jurkat	blood:	n/a
12	chr16:74330236-74330286	GM12878	blood:	n/a
13	chr16:74330236-74330286	GM12892	blood:	n/a
14	chr16:74330236-74330286	AG04450	lung:	fetal
15	chr16:74330236-74330286	HCF	heart:	n/a
16	chr16:74330236-74330286	GM12891	blood:	n/a
17	chr16:74330236-74330286	HRCEpiC	kidney:	n/a
18	chr16:74330236-74330286	NHDF-neo	bronchial:	n/a
19	chr16:74330236-74330286	HL-60	blood:	n/a
20	chr16:74330236-74330286	SK-N-MC	brain:	n/a
21	chr16:74330236-74330286	HepG2	liver:	n/a
22	chr16:74330236-74330286	PANC-1	pancreas:	n/a
23	chr16:74330236-74330286	Caco-2	colon:	n/a
24	chr16:74330236-74330286	SKMC	muscle:	n/a
25	chr16:74330236-74330286	CMK	blood:	n/a
26	chr16:74330236-74330286	IMR90	lung:	fetal
27	chr16:74330236-74330286	AG10803	skin:	n/a
28	chr16:74330236-74330286	HNPCEpiC	eye:	n/a
29	chr16:74330236-74330286	HCPEpiC	choroid plexus:	n/a
30	chr16:74330236-74330286	SK-N-SH_RA	brain:	n/a
31	chr16:74330236-74330286	AG09309	skin:	n/a
32	chr16:74330236-74330286	Hepatocyte	liver:	n/a
33	chr16:74330236-74330286	MCF10A-Er-Src	breast:	n/a
34	chr16:74330236-74330286	BJ	skin:	n/a
35	chr16:74330236-74330286	PrEC	prostate:	n/a
36	chr16:74330236-74330286	AG09319	gingival:	n/a
37	chr16:74330236-74330286	HRE	kidney:	n/a
38	chr16:74330236-74330286	NT2-D1	testis:	n/a
39	chr16:74330236-74330286	HEEpiC	esophagus:	n/a
40	chr16:74330236-74330286	Hela-S3	cervix:	n/a
41	chr16:74330236-74330286	NH-A	brain:	n/a
42	chr16:74330236-74330286	GM06990	blood:	n/a
43	chr16:74330236-74330286	NB4	blood:	n/a
44	chr16:74330236-74330286	ProgFib	skin:	n/a
45	chr16:74330236-74330286	GM19239	blood:	n/a
46	chr16:74330236-74330286	SK-N-SH	brain:	n/a
47	chr16:74330236-74330286	PFSK-1	brain:	n/a
48	chr16:74330236-74330286	U87	brain:	n/a
49	chr16:74330236-74330286	HEK293	kidney:	embryo
50	chr16:74330236-74330286	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:74330218..74331932-chr17:56768281..56770870,2	MCF-7	breast:
2	chr16:74315898..74319035-chr16:74328257..74331798,3	MCF-7	breast:
3	chr16:74329306..74331523-chr16:74400690..74402975,2	MCF-7	breast:
4	chr16:74328724..74332172-chr16:74639853..74642931,3	MCF-7	breast:

Variant related genes	Relation type
PSMD7	TF binding region
PSMD7	CpG island
ENSG00000214331	Chromatin interaction
ENSG00000108384	Chromatin interaction
ENSG00000090863	Chromatin interaction
ENSG00000261248	Chromatin interaction
ENSG00000121101	Chromatin interaction
ENSG00000261079	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73602795	1.00[AMR][1000 genomes]
rs9319444	1.00[AMR][1000 genomes]
rs9933000	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:125 , 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	chr16:74329400-74330400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr16:74329400-74330400	Active TSS	Right Atrium	heart
4	chr16:74329400-74331400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr16:74329400-74332200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:74329400-74332200	Active TSS	Psoas Muscle	Psoas
7	chr16:74329600-74330400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr16:74329600-74330400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:74329600-74330600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr16:74329600-74330800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:74329600-74331000	Active TSS	Fetal Intestine Small	intestine
12	chr16:74329600-74331200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:74329600-74331400	Active TSS	Colonic Mucosa	Colon
14	chr16:74329600-74331400	Active TSS	Fetal Brain Male	brain
15	chr16:74329600-74331800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:74329600-74331800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:74329600-74331800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:74329600-74332000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr16:74329600-74332000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr16:74329600-74332000	Active TSS	Muscle Satellite Cultured Cells	--
21	chr16:74329600-74332200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:74329600-74332200	Active TSS	HSMMtube	muscle
23	chr16:74329600-74332200	Active TSS	NHLF	lung
24	chr16:74329800-74330600	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr16:74329800-74331000	Active TSS	Primary T cells fromperipheralblood	blood
26	chr16:74329800-74331200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr16:74329800-74331400	Active TSS	Fetal Muscle Trunk	muscle
28	chr16:74329800-74331400	Active TSS	Fetal Stomach	stomach
29	chr16:74329800-74331400	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr16:74329800-74331600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr16:74329800-74331600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:74329800-74331600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr16:74329800-74331600	Active TSS	Colon Smooth Muscle	Colon
34	chr16:74329800-74331600	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr16:74329800-74331600	Active TSS	A549	lung
36	chr16:74329800-74331800	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr16:74329800-74331800	Active TSS	Ovary	ovary
38	chr16:74329800-74331800	Active TSS	Placenta Amnion	Placenta Amnion
39	chr16:74329800-74332000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr16:74329800-74332000	Active TSS	Fetal Kidney	kidney
41	chr16:74329800-74332200	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr16:74329800-74332200	Active TSS	H1 Cell Line	embryonic stem cell
43	chr16:74329800-74332200	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr16:74329800-74332200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:74329800-74332200	Active TSS	Right Ventricle	heart
46	chr16:74329800-74332800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:74330000-74330400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr16:74330000-74330400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr16:74330000-74330400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr16:74330000-74330400	Flanking Active TSS	Hela-S3	cervix

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