Variant report

Variant	rs3784939
Chromosome Location	chr16:75278192-75278193
allele	C/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	chr16:75276865-75287749	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:75277574-75279910	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr16:75277507-75280033	IMR90	lung:	n/a	chr16:75279563-75279570 chr16:75279562-75279571 chr16:75279003-75279013 chr16:75279620-75279630 chr16:75279561-75279571 chr16:75279553-75279569 chr16:75279390-75279400 chr16:75279562-75279571 chr16:75279682-75279692 chr16:75279561-75279572 chr16:75279561-75279572
4	POLR2A	chr16:75277997-75279868	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:75278032-75286811	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:75277156-75286603	IMR90	lung:	n/a	n/a
7	RAD21	chr16:75278151-75278709	H1-hESC	embryonic stem cell:	n/a	chr16:75278567-75278581 chr16:75278616-75278629 chr16:75278618-75278628
8	POLR2A	chr16:75277186-75286167	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr16:75277535-75278199	A549	lung:	n/a	n/a
10	POLR2A	chr16:75277560-75287530	HepG2	liver:	n/a	n/a
11	CTCF	chr16:75278180-75278330	HCT-116	colon:	n/a	chr16:75278270-75278283
12	RAD21	chr16:75278039-75278596	SK-N-SH_RA	brain:	n/a	chr16:75278567-75278581 chr16:75278058-75278071
13	POLR2A	chr16:75277606-75278610	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr16:75277422-75283340	HUVEC	blood vessel:	n/a	n/a
15	MAX	chr16:75278147-75280130	HepG2	liver:	n/a	chr16:75279563-75279570 chr16:75279562-75279571 chr16:75279003-75279013 chr16:75279620-75279630 chr16:75279561-75279571 chr16:75279553-75279569 chr16:75279390-75279400 chr16:75279562-75279571 chr16:75279682-75279692 chr16:75279561-75279572 chr16:75279561-75279572
16	POLR2A	chr16:75277612-75278728	HUVEC	blood vessel:	n/a	n/a
17	SPI1	chr16:75278050-75278479	HL-60	blood:	n/a	chr16:75278265-75278278
18	ELF1	chr16:75278116-75278419	K562	blood:	n/a	chr16:75278265-75278278 chr16:75278231-75278244
19	POLR2A	chr16:75277805-75281200	HUVEC	blood vessel:	n/a	n/a
20	TFAP2C	chr16:75278022-75279839	Hela-S3	cervix:	n/a	chr16:75278286-75278301 chr16:75279200-75279209
21	POLR2A	chr16:75277887-75278588	H1-hESC	embryonic stem cell:	n/a	n/a
22	SMARCB1	chr16:75277635-75279766	Hela-S3	cervix:	n/a	n/a
23	TFAP2A	chr16:75278007-75279804	Hela-S3	cervix:	n/a	chr16:75278287-75278298 chr16:75278287-75278298 chr16:75278287-75278298 chr16:75278287-75278298
24	RAD21	chr16:75278008-75278862	SK-N-SH	brain:	n/a	chr16:75278567-75278581 chr16:75278616-75278629 chr16:75278618-75278628 chr16:75278058-75278071
25	POLR2A	chr16:75277600-75281701	HepG2	liver:	n/a	n/a
26	REST	chr16:75278074-75278498	SK-N-SH	brain:	n/a	chr16:75278367-75278376
27	POLR2A	chr16:75277681-75279836	Hela-S3	cervix:	n/a	n/a
28	HEY1	chr16:75278030-75279869	HepG2	liver:	n/a	chr16:75279562-75279571 chr16:75278614-75278629
29	ELF1	chr16:75278068-75278508	GM12878	blood:	n/a	chr16:75278265-75278278 chr16:75278231-75278244
30	POLR2A	chr16:75277765-75281238	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr16:75277976-75279930	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75258215..75260449-chr16:75277050..75278735,2	K562	blood:
2	chr16:75277872..75280775-chr16:75339667..75341248,2	MCF-7	breast:
3	chr16:75270029..75275734-chr16:75275780..75279452,5	K562	blood:
4	chr16:75278019..75280837-chr16:75435564..75439238,4	MCF-7	breast:
5	chr16:75278100..75280781-chr16:75467014..75469094,2	MCF-7	breast:

Variant related genes	Relation type
BCAR1	TF binding region
ENSG00000050820	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000240338	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13337397	0.81[JPT][hapmap]
rs28439846	0.83[ASN][1000 genomes]
rs28595463	0.82[ASN][1000 genomes]
rs3743614	0.90[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs3826110	0.86[ASN][1000 genomes]
rs56221625	0.83[EUR][1000 genomes]
rs59067758	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60879082	0.81[ASN][1000 genomes]
rs8048529	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers 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	47 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	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
17	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
18	esv1843498	chr16:75271642-75296844	Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
19	nsv978002	chr16:75274402-75288324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75266600-75278800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:75269600-75280600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:75270400-75278400	Genic enhancers	Fetal Muscle Leg	muscle
4	chr16:75270400-75278800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:75271800-75278200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:75272800-75278800	Genic enhancers	Gastric	stomach
7	chr16:75274000-75278600	Genic enhancers	NHLF	lung
8	chr16:75274200-75278200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:75274200-75278200	Genic enhancers	HepG2	liver
10	chr16:75275400-75278600	Weak transcription	Fetal Kidney	kidney
11	chr16:75276000-75278600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:75276000-75278600	Enhancers	Fetal Heart	heart
13	chr16:75276200-75278600	Weak transcription	K562	blood
14	chr16:75276400-75278200	Genic enhancers	Pancreas	Pancrea
15	chr16:75276600-75279200	Weak transcription	Fetal Brain Female	brain
16	chr16:75276600-75279400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:75276800-75278600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr16:75276800-75283400	Enhancers	NHDF-Ad	bronchial
19	chr16:75276800-75283800	Enhancers	Left Ventricle	heart
20	chr16:75277000-75278400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr16:75277000-75279000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr16:75277000-75279200	Enhancers	Aorta	Aorta
23	chr16:75277000-75280200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr16:75277000-75280200	Enhancers	Brain Substantia Nigra	brain
25	chr16:75277000-75281400	Enhancers	Brain Angular Gyrus	brain
26	chr16:75277000-75283400	Genic enhancers	Fetal Intestine Small	intestine
27	chr16:75277200-75278200	Genic enhancers	HSMM	muscle
28	chr16:75277200-75278200	Enhancers	NH-A	brain
29	chr16:75277200-75278400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr16:75277200-75278400	Genic enhancers	Muscle Satellite Cultured Cells	--
31	chr16:75277200-75278400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr16:75277200-75278400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr16:75277200-75278600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:75277200-75279000	Enhancers	Right Ventricle	heart
35	chr16:75277200-75279200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:75277200-75279200	Enhancers	Brain Anterior Caudate	brain
37	chr16:75277200-75281600	Genic enhancers	Fetal Stomach	stomach
38	chr16:75277200-75284200	Enhancers	Spleen	Spleen
39	chr16:75277400-75278200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr16:75277400-75278200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr16:75277400-75278400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr16:75277400-75278400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:75277400-75278400	Enhancers	Rectal Smooth Muscle	rectum
44	chr16:75277400-75278400	Genic enhancers	Osteobl	bone
45	chr16:75277400-75278600	Genic enhancers	A549	lung
46	chr16:75277400-75281800	Enhancers	Adipose Nuclei	Adipose
47	chr16:75277400-75281800	Enhancers	Stomach Mucosa	stomach
48	chr16:75277400-75283400	Enhancers	Colon Smooth Muscle	Colon
49	chr16:75277600-75278400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:75277600-75278600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links