Variant report

Variant	rs73605136
Chromosome Location	chr16:75299967-75299968
allele	C/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	ZBTB7A	chr16:75299671-75300181	HepG2	liver:	n/a	n/a
2	YY1	chr16:75299542-75300103	GM12878	blood:	n/a	chr16:75299651-75299665
3	MAX	chr16:75299949-75300149	GM12878	blood:	n/a	n/a
4	MAX	chr16:75299781-75300307	ECC-1	luminal epithelium:	n/a	n/a
5	ELK1	chr16:75299953-75300029	K562	blood:	n/a	n/a
6	MXI1	chr16:75299865-75300065	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr16:75299339-75300293	K562	blood:	n/a	chr16:75299459-75299467 chr16:75299651-75299665
8	TAF1	chr16:75299758-75300089	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr16:75299603-75300316	K562	blood:	n/a	n/a
10	RAD21	chr16:75299883-75300145	K562	blood:	n/a	chr16:75300103-75300115
11	POLR2A	chr16:75299594-75300195	GM12892	blood:	n/a	n/a
12	ELF1	chr16:75299673-75300417	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:75299630-75300250	HCT-116	colon:	n/a	n/a
14	POLR2A	chr16:75299857-75300171	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr16:75299854-75300204	K562	blood:	n/a	n/a
16	PML	chr16:75299759-75300341	MCF-7	breast:	n/a	n/a
17	POLR2A	chr16:75299637-75300302	GM19099	blood:	n/a	n/a
18	POLR2A	chr16:75299831-75300031	GM12878	blood:	n/a	n/a
19	NRF1	chr16:75299526-75300265	SK-N-SH	brain:	n/a	chr16:75299654-75299663 chr16:75299898-75299909
20	NFIC	chr16:75299692-75300269	HepG2	liver:	n/a	n/a
21	PAX5	chr16:75299667-75300235	GM12892	blood:	n/a	n/a
22	YY1	chr16:75299782-75300049	SK-N-SH_RA	brain:	n/a	n/a
23	POLR2A	chr16:75299720-75300169	A549	lung:	n/a	n/a
24	JUND	chr16:75299872-75300160	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr16:75299585-75300256	A549	lung:	n/a	n/a
26	MTA3	chr16:75299898-75300750	GM12878	blood:	n/a	n/a
27	POLR2A	chr16:75299554-75300415	PFSK-1	brain:	n/a	n/a
28	NR2F2	chr16:75299710-75300558	MCF-7	breast:	n/a	n/a
29	POLR2A	chr16:75299650-75300238	K562	blood:	n/a	n/a
30	POLR2A	chr16:75299687-75300236	HepG2	liver:	n/a	n/a
31	CHD2	chr16:75299959-75300180	H1-hESC	embryonic stem cell:	n/a	n/a
32	RCOR1	chr16:75299812-75300318	HepG2	liver:	n/a	n/a
33	RAD21	chr16:75299713-75300245	SK-N-SH_RA	brain:	n/a	chr16:75300103-75300115
34	HEY1	chr16:75299563-75300337	HepG2	liver:	n/a	n/a
35	BHLHE40	chr16:75299784-75300647	GM12878	blood:	n/a	chr16:75299884-75299900 chr16:75300514-75300523 chr16:75300509-75300530
36	TAF1	chr16:75299702-75300178	K562	blood:	n/a	n/a
37	GTF2F1	chr16:75299847-75300184	H1-hESC	embryonic stem cell:	n/a	n/a
38	CBX3	chr16:75299858-75300244	K562	blood:	n/a	n/a
39	POLR2A	chr16:75299632-75300084	U87	brain:	n/a	n/a
40	MAX	chr16:75299904-75300104	HepG2	liver:	n/a	n/a
41	CEBPD	chr16:75299573-75300161	HepG2	liver:	n/a	n/a
42	POLR2A	chr16:75299619-75300236	ECC-1	luminal epithelium:	n/a	n/a
43	HCFC1	chr16:75299332-75300587	Hela-S3	cervix:	n/a	n/a
44	SIN3A	chr16:75298794-75300213	H1-hESC	embryonic stem cell:	n/a	chr16:75300114-75300127 chr16:75299469-75299482 chr16:75299408-75299421
45	ATF3	chr16:75299568-75300001	HepG2	liver:	n/a	n/a
46	POLR2A	chr16:75299630-75300307	GM18951	blood:	n/a	n/a
47	POLR2A	chr16:75299779-75300337	Hela-S3	cervix:	n/a	n/a
48	RCOR1	chr16:75299859-75300247	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr16:75299662-75300202	GM15510	blood:	n/a	n/a
50	TAF1	chr16:75299760-75300186	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75297370..75301171-chr16:75316900..75323378,8	MCF-7	breast:
2	chr16:75181071..75184316-chr16:75297168..75299985,3	MCF-7	breast:
3	chr16:75298469..75301995-chr16:75337781..75340827,6	MCF-7	breast:
4	chr1:149856624..149859065-chr16:75299349..75301400,2	MCF-7	breast:
5	chr16:75285160..75285722-chr16:75299383..75300023,2	MCF-7	breast:
6	chr16:75298649..75302173-chr16:75337597..75342572,10	MCF-7	breast:
7	chr16:75296409..75300528-chr16:75549238..75552790,3	MCF-7	breast:
8	chr16:75299703..75301536-chr16:75319943..75321807,2	K562	blood:

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000153774	Chromatin interaction
ENSG00000252101	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184517	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13337017	0.83[EUR][1000 genomes]
rs13337397	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28439846	0.83[EUR][1000 genomes]
rs28595463	0.83[EUR][1000 genomes]
rs3743614	0.83[EUR][1000 genomes]
rs3826110	0.83[EUR][1000 genomes]
rs56787417	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60852020	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7185352	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72804106	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73605139	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8046145	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8048529	0.83[EUR][1000 genomes]
rs8062169	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8063014	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][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	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	esv1813349	chr16:75257361-75302684	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
14	nsv906913	chr16:75267743-75306402	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
15	nsv471095	chr16:75269533-75320827	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
16	esv3329193	chr16:75298476-75301324	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75297400-75300400	Active TSS	Aorta	Aorta
2	chr16:75297800-75300400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr16:75298000-75300400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr16:75298200-75300600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr16:75298200-75300600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr16:75298400-75300200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:75298400-75300200	Active TSS	HSMMtube	muscle
8	chr16:75298400-75300200	Active TSS	NHDF-Ad	bronchial
9	chr16:75298400-75300400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:75298400-75300800	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr16:75298600-75300000	Active TSS	Spleen	Spleen
12	chr16:75298600-75300000	Active TSS	HSMM	muscle
13	chr16:75298600-75300000	Active TSS	NHLF	lung
14	chr16:75298600-75300200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:75298600-75300200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr16:75298600-75300200	Active TSS	Ovary	ovary
17	chr16:75298600-75300400	Active TSS	Small Intestine	intestine
18	chr16:75298600-75300600	Active TSS	Fetal Kidney	kidney
19	chr16:75298800-75300000	Active TSS	Muscle Satellite Cultured Cells	--
20	chr16:75298800-75300000	Active TSS	HUVEC	blood vessel
21	chr16:75298800-75300000	Active TSS	NH-A	brain
22	chr16:75298800-75300000	Active TSS	Osteobl	bone
23	chr16:75298800-75300200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr16:75298800-75300200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr16:75298800-75300200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr16:75298800-75300200	Active TSS	Brain Angular Gyrus	brain
27	chr16:75298800-75300200	Active TSS	Brain Anterior Caudate	brain
28	chr16:75298800-75300200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:75298800-75300200	Active TSS	Colon Smooth Muscle	Colon
30	chr16:75298800-75300200	Active TSS	Fetal Lung	lung
31	chr16:75298800-75300200	Active TSS	Left Ventricle	heart
32	chr16:75298800-75300200	Active TSS	Right Ventricle	heart
33	chr16:75298800-75300200	Active TSS	HepG2	liver
34	chr16:75298800-75300400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr16:75298800-75300400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:75299000-75300000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr16:75299000-75300000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:75299000-75300000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr16:75299000-75300000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:75299000-75300000	Active TSS	Brain Hippocampus Middle	brain
41	chr16:75299000-75300000	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr16:75299000-75300000	Weak transcription	Fetal Brain Male	brain
43	chr16:75299000-75300000	Active TSS	Pancreas	Pancrea
44	chr16:75299000-75300200	Active TSS	H1 Cell Line	embryonic stem cell
45	chr16:75299000-75300200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr16:75299000-75300200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr16:75299000-75300200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:75299000-75300200	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr16:75299000-75300200	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr16:75299000-75300200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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