Variant report

Variant	rs4888135
Chromosome Location	chr16:81349416-81349417
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	CTCF	chr16:81349340-81349490	NHLF	lung:	n/a	n/a
2	ELF1	chr16:81348174-81349531	GM12878	blood:	n/a	n/a
3	CTCF	chr16:81349416-81349481	GM10248	blood:	n/a	n/a
4	CTCF	chr16:81349380-81349530	GM12873	blood:	n/a	n/a
5	CTCF	chr16:81349320-81349470	GM12874	blood:	n/a	n/a
6	CTCF	chr16:81349280-81349430	HRPEpiC	eye:	n/a	n/a
7	MAZ	chr16:81348137-81349555	K562	blood:	n/a	n/a
8	EBF1	chr16:81349251-81349544	GM12878	blood:	n/a	n/a
9	ZBTB7A	chr16:81348687-81349516	K562	blood:	n/a	chr16:81349116-81349123
10	CTCF	chr16:81349374-81349503	A549	lung:	n/a	n/a
11	CTCF	chr16:81349300-81349450	AG04449	skin:	n/a	n/a
12	CTCF	chr16:81349340-81349490	BJ	skin:	n/a	n/a
13	CTCF	chr16:81349368-81349447	GM10266	blood:	n/a	n/a
14	HA-E2F1	chr16:81349174-81349710	MCF-7	breast:	n/a	chr16:81349357-81349367 chr16:81349368-81349378
15	CTCF	chr16:81349360-81349510	SK-N-SH_RA	brain:	n/a	n/a
16	POLR2A	chr16:81348112-81349487	MCF-7	breast:	n/a	n/a
17	CTCF	chr16:81349136-81349566	K562	blood:	n/a	n/a
18	CTCF	chr16:81349323-81349514	MCF-7	breast:	n/a	n/a
19	CTCF	chr16:81349354-81349479	GM12892	blood:	n/a	n/a
20	HCFC1	chr16:81348160-81349599	K562	blood:	n/a	n/a
21	SMARCB1	chr16:81348176-81349546	Hela-S3	cervix:	n/a	n/a
22	TAF1	chr16:81348146-81349464	HepG2	liver:	n/a	n/a
23	MYC	chr16:81349254-81349443	MCF-7	breast:	n/a	n/a
24	CTCF	chr16:81349320-81349470	GM12865	blood:	n/a	n/a
25	CTCF	chr16:81349280-81349430	HBMEC	blood vessel:	n/a	n/a
26	RAD21	chr16:81349308-81349511	SK-N-SH_RA	brain:	n/a	n/a
27	POLR2A	chr16:81349183-81349537	HCT-116	colon:	n/a	n/a
28	MAX	chr16:81348077-81349627	K562	blood:	n/a	n/a
29	ZBTB7A	chr16:81348331-81349496	ECC-1	luminal epithelium:	n/a	chr16:81349116-81349123
30	CTCF	chr16:81349366-81349507	GM19240	blood:	n/a	n/a
31	SIN3A	chr16:81347094-81349480	H1-hESC	embryonic stem cell:	n/a	chr16:81349182-81349195 chr16:81349360-81349373
32	RAD21	chr16:81349264-81349643	MCF-7	breast:	n/a	n/a
33	BHLHE40	chr16:81349332-81349574	K562	blood:	n/a	n/a
34	CTCF	chr16:81349380-81349530	GM12869	blood:	n/a	n/a
35	CTCF	chr16:81349340-81349490	GM12871	blood:	n/a	n/a
36	EGR1	chr16:81349221-81349474	K562	blood:	n/a	chr16:81349354-81349367
37	CTCF	chr16:81349283-81349895	K562	blood:	n/a	n/a
38	CTCF	chr16:81349300-81349450	GM12866	blood:	n/a	n/a
39	MAX	chr16:81349221-81349534	K562	blood:	n/a	n/a
40	E2F4	chr16:81349285-81349505	MCF10A-Er-Src	breast:	n/a	chr16:81349357-81349367 chr16:81349368-81349378
41	EGR1	chr16:81349200-81349467	K562	blood:	n/a	chr16:81349354-81349367
42	CTCF	chr16:81349300-81349450	HCM	heart:	n/a	n/a
43	SIN3AK20	chr16:81347289-81349895	MCF-7	breast:	n/a	n/a
44	SIN3AK20	chr16:81349176-81349502	SK-N-SH	brain:	n/a	n/a
45	CTCF	chr16:81349280-81349430	NHDF-neo	bronchial:	n/a	n/a
46	CTCF	chr16:81349300-81349450	BJ	skin:	n/a	n/a
47	ZNF143	chr16:81349333-81349500	K562	blood:	n/a	chr16:81349368-81349378 chr16:81349357-81349367
48	RAD21	chr16:81349285-81349502	SK-N-SH_RA	brain:	n/a	n/a
49	CHD2	chr16:81349242-81349434	HepG2	liver:	n/a	n/a
50	CTCF	chr16:81349360-81349510	HMEC	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81109518..81111024-chr16:81347327..81349963,2	K562	blood:
2	chr16:81348969..81350661-chr16:81387216..81389989,2	MCF-7	breast:
3	chr16:81038258..81040784-chr16:81347032..81349945,2	K562	blood:
4	chr16:81347539..81350872-chr16:81478035..81482618,4	MCF-7	breast:
5	chr16:81347950..81350114-chr16:81397372..81401433,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260495	TF binding region
ENSG00000153815	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000261609	Chromatin interaction
ENSG00000245059	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10454708	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11150384	0.90[ASN][1000 genomes]
rs11150385	1.00[CEU][hapmap]
rs11150386	0.85[ASN][1000 genomes]
rs12149852	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12599564	0.95[ASN][1000 genomes]
rs12924233	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3809632	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3809633	0.92[EUR][1000 genomes]
rs4468614	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522413	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4598907	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888137	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6564868	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7184259	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7186648	0.90[ASN][1000 genomes]
rs7195134	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7196075	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7203686	1.00[CEU][hapmap]
rs8055879	0.85[ASN][1000 genomes]
rs8060840	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9926795	0.95[ASN][1000 genomes]
rs9940292	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS 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	56 gene(s)	inside rSNPs	diseases
3	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	37 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	chr16:81346800-81349800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr16:81346800-81350200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr16:81347000-81349600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:81347000-81349600	Active TSS	NHLF	lung
5	chr16:81347000-81349800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:81347000-81350000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr16:81347000-81350000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:81347000-81350200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:81347200-81349800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr16:81347200-81350000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr16:81347200-81350400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:81347400-81349600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:81347400-81349800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:81347400-81350000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:81347600-81349600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:81347600-81349600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr16:81347600-81349600	Active TSS	Fetal Kidney	kidney
18	chr16:81347600-81349600	Active TSS	HSMM	muscle
19	chr16:81347600-81349800	Active TSS	A549	lung
20	chr16:81347800-81349600	Active TSS	Brain Cingulate Gyrus	brain
21	chr16:81347800-81349600	Active TSS	Fetal Intestine Small	intestine
22	chr16:81347800-81349600	Active TSS	Gastric	stomach
23	chr16:81347800-81349600	Active TSS	Stomach Mucosa	stomach
24	chr16:81347800-81349600	Active TSS	Spleen	Spleen
25	chr16:81347800-81349600	Active TSS	NHDF-Ad	bronchial
26	chr16:81347800-81349800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr16:81347800-81349800	Active TSS	Fetal Muscle Trunk	muscle
28	chr16:81347800-81349800	Active TSS	Ovary	ovary
29	chr16:81347800-81349800	Active TSS	Placenta Amnion	Placenta Amnion
30	chr16:81347800-81350200	Active TSS	Right Atrium	heart
31	chr16:81347800-81350200	Active TSS	Right Ventricle	heart
32	chr16:81348000-81349600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:81348000-81349600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr16:81348000-81349600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:81348000-81349600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
36	chr16:81348000-81349600	Active TSS	Muscle Satellite Cultured Cells	--
37	chr16:81348000-81349600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:81348000-81349600	Active TSS	Brain Hippocampus Middle	brain
39	chr16:81348000-81349600	Active TSS	Duodenum Mucosa	Duodenum
40	chr16:81348000-81349600	Active TSS	Fetal Brain Female	brain
41	chr16:81348000-81349600	Active TSS	Fetal Lung	lung
42	chr16:81348000-81349600	Active TSS	Fetal Stomach	stomach
43	chr16:81348000-81349600	Active TSS	Pancreas	Pancrea
44	chr16:81348000-81349600	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr16:81348000-81349600	Active TSS	NHEK	skin
46	chr16:81348000-81349800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:81348000-81349800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr16:81348000-81349800	Active TSS	Aorta	Aorta
49	chr16:81348000-81349800	Active TSS	Colonic Mucosa	Colon
50	chr16:81348000-81349800	Active TSS	Left Ventricle	heart

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