Variant report

Variant	rs8056865
Chromosome Location	chr16:74808737-74808738
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	HA-E2F1	chr16:74807952-74809287	MCF-7	breast:	n/a	chr16:74808877-74808886
2	E2F1	chr16:74808268-74809098	Hela-S3	cervix:	n/a	chr16:74808877-74808886
3	EGR1	chr16:74808524-74809137	MCF-7	breast:	n/a	chr16:74808856-74808866 chr16:74808661-74808685 chr16:74808876-74808886 chr16:74808907-74808920 chr16:74808907-74808920
4	REST	chr16:74808556-74808813	HepG2	liver:	n/a	n/a
5	TBP	chr16:74808635-74808793	HepG2	liver:	n/a	n/a
6	CTCF	chr16:74808479-74808737	GM12892	blood:	n/a	n/a
7	EP300	chr16:74808468-74809125	T-47D	breast:	n/a	chr16:74808877-74808886
8	POLR2A	chr16:74808664-74808864	MCF10A-Er-Src	breast:	n/a	n/a
9	UBTF	chr16:74808470-74809070	K562	blood:	n/a	n/a
10	YY1	chr16:74808266-74808928	HepG2	liver:	n/a	chr16:74808732-74808741
11	CTCF	chr16:74808405-74809028	K562	blood:	n/a	chr16:74808850-74808863
12	POLR2A	chr16:74808486-74808891	GM18951	blood:	n/a	n/a
13	EGR1	chr16:74808505-74808881	K562	blood:	n/a	chr16:74808856-74808866 chr16:74808661-74808685
14	MAX	chr16:74808542-74809024	K562	blood:	n/a	n/a
15	E2F6	chr16:74808019-74808768	H1-hESC	embryonic stem cell:	n/a	n/a
16	RCOR1	chr16:74808689-74809023	K562	blood:	n/a	n/a
17	MAZ	chr16:74808184-74808912	HepG2	liver:	n/a	n/a
18	ZBTB7A	chr16:74808439-74808756	HepG2	liver:	n/a	n/a
19	CEBPB	chr16:74808300-74808928	Hela-S3	cervix:	n/a	n/a
20	MAX	chr16:74808342-74809208	A549	lung:	n/a	n/a
21	ELF1	chr16:74808624-74808855	K562	blood:	n/a	chr16:74808677-74808689
22	POLR2A	chr16:74808508-74808862	Hela-S3	cervix:	n/a	n/a
23	TBP	chr16:74808659-74808849	Hela-S3	cervix:	n/a	n/a
24	MYC	chr16:74808555-74809054	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr16:74808420-74809112	HCT-116	colon:	n/a	n/a
26	POLR2A	chr16:74808390-74809081	MCF-7	breast:	n/a	n/a
27	POU2F2	chr16:74808541-74808921	GM12878	blood:	n/a	chr16:74808772-74808779 chr16:74808771-74808781 chr16:74808770-74808780 chr16:74808754-74808766 chr16:74808771-74808782 chr16:74808768-74808783 chr16:74808769-74808782 chr16:74808772-74808780 chr16:74808771-74808780 chr16:74808767-74808785 chr16:74808769-74808783 chr16:74808769-74808781 chr16:74808770-74808780
28	HDAC2	chr16:74808622-74808927	K562	blood:	n/a	n/a
29	POLR2A	chr16:74807376-74809192	Hela-S3	cervix:	n/a	n/a
30	CREB1	chr16:74808321-74809079	HepG2	liver:	n/a	n/a
31	ZEB1	chr16:74807809-74809311	HepG2	liver:	n/a	chr16:74808759-74808771 chr16:74808057-74808066
32	MAX	chr16:74808489-74809086	NB4	blood:	n/a	n/a
33	EP300	chr16:74808449-74808992	HepG2	liver:	n/a	chr16:74808877-74808886
34	POLR2A	chr16:74808486-74809053	ECC-1	luminal epithelium:	n/a	n/a
35	IRF1	chr16:74808645-74809081	K562	blood:	n/a	n/a
36	POLR2A	chr16:74808514-74809075	HCT-116	colon:	n/a	n/a
37	GABPA	chr16:74808490-74809083	K562	blood:	n/a	chr16:74808877-74808886
38	NRF1	chr16:74808366-74809476	SK-N-SH	brain:	n/a	chr16:74808877-74808886
39	ZKSCAN1	chr16:74807615-74809105	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr16:74808385-74809036	Hela-S3	cervix:	n/a	n/a
41	MAZ	chr16:74808537-74808799	GM12878	blood:	n/a	n/a
42	MAX	chr16:74807900-74809277	A549	lung:	n/a	n/a
43	TCF12	chr16:74808627-74808889	H1-hESC	embryonic stem cell:	n/a	chr16:74808760-74808767
44	TAF1	chr16:74808521-74808807	Hela-S3	cervix:	n/a	n/a
45	FOXA1	chr16:74808729-74808959	T-47D	breast:	n/a	n/a
46	CTCF	chr16:74808430-74808763	H1-hESC	embryonic stem cell:	n/a	n/a
47	BHLHE40	chr16:74808439-74809001	HepG2	liver:	n/a	chr16:74808663-74808679
48	CTCF	chr16:74808260-74809440	A549	lung:	n/a	chr16:74808850-74808863
49	ZNF143	chr16:74808562-74808827	K562	blood:	n/a	chr16:74808662-74808680
50	TAF1	chr16:74808498-74808823	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:74808018..74808851-chr17:56708883..56709551,2	Hela-S3	cervix:
2	chr12:49075684..49076658-chr16:74808184..74809111,2	Hela-S3	cervix:
3	chr16:74808593..74809126-chr19:47729533..47730416,2	Hela-S3	cervix:
4	chr1:150551657..150552400-chr16:74808155..74808789,2	Hela-S3	cervix:
5	chr16:74780351..74785848-chr16:74807254..74810760,5	MCF-7	breast:
6	chr16:74733195..74735791-chr16:74808098..74810284,2	MCF-7	breast:
7	chr16:74808129..74809001-chr5:102594045..102594631,2	Hela-S3	cervix:
8	chr16:74807149..74809912-chr16:75031086..75033646,2	K562	blood:
9	chr16:74639550..74641581-chr16:74807384..74809629,2	MCF-7	breast:

Variant related genes	Relation type
FA2H	TF binding region
ENSG00000143384	Chromatin interaction
ENSG00000139620	Chromatin interaction
ENSG00000090863	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000265134	Chromatin interaction
ENSG00000181751	Chromatin interaction
ENSG00000186187	Chromatin interaction
ENSG00000168404	Chromatin interaction
ENSG00000263661	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1013978	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11149764	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11149765	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2870142	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6564169	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6564170	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7185704	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9934687	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	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
4	nsv1061948	chr16:74660609-74882915	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
5	nsv542957	chr16:74660609-74882915	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
6	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
7	nsv517513	chr16:74743736-74812676	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
8	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
9	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv457520	chr16:74758984-74907440	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
12	nsv572976	chr16:74758984-74907440	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	esv3369191	chr16:74807951-74809849	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74805600-74809000	Active TSS	Brain Angular Gyrus	brain
2	chr16:74806200-74808800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr16:74806400-74808800	Active TSS	Brain Substantia Nigra	brain
4	chr16:74806400-74809000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:74806600-74809000	Active TSS	Brain Anterior Caudate	brain
6	chr16:74807400-74809000	Active TSS	Gastric	stomach
7	chr16:74807400-74809400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr16:74807600-74809000	Bivalent/Poised TSS	Small Intestine	intestine
9	chr16:74807600-74809200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr16:74807600-74809400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr16:74807600-74809400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr16:74807600-74809400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr16:74807800-74809000	Enhancers	Fetal Heart	heart
14	chr16:74807800-74809200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr16:74807800-74809400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:74808000-74808800	Bivalent Enhancer	Primary B cells from cord blood	blood
17	chr16:74808000-74808800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr16:74808000-74809000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr16:74808000-74809000	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr16:74808000-74809000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
21	chr16:74808000-74809000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
22	chr16:74808000-74809000	Flanking Active TSS	Right Ventricle	heart
23	chr16:74808000-74809000	Bivalent/Poised TSS	Stomach Mucosa	stomach
24	chr16:74808000-74809000	Active TSS	Hela-S3	cervix
25	chr16:74808000-74809000	Bivalent/Poised TSS	HSMM	muscle
26	chr16:74808000-74809200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:74808000-74809200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
28	chr16:74808000-74809200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:74808000-74809200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr16:74808000-74809200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
31	chr16:74808000-74809200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
32	chr16:74808000-74809400	Active TSS	H9 Cell Line	embryonic stem cell
33	chr16:74808000-74809400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr16:74808000-74809400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr16:74808000-74809400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr16:74808000-74809400	Bivalent Enhancer	Fetal Brain Male	brain
37	chr16:74808000-74809600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
38	chr16:74808200-74808800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
39	chr16:74808200-74808800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr16:74808200-74808800	Transcr. at gene 5' and 3'	Right Atrium	heart
41	chr16:74808200-74808800	Flanking Active TSS	Spleen	Spleen
42	chr16:74808200-74809000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
43	chr16:74808200-74809000	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:74808200-74809000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
45	chr16:74808200-74809000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr16:74808200-74809000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:74808200-74809000	Active TSS	GM12878-XiMat	blood
48	chr16:74808200-74809200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr16:74808200-74809200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr16:74808200-74809200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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