Variant report

Variant	rs314313
Chromosome Location	chr7:100423365-100423366
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	MAX	chr7:100422794-100425971	K562	blood:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
2	MAX	chr7:100422691-100425951	MCF-7	breast:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
3	POLR2A	chr7:100422569-100423539	HUVEC	blood vessel:	n/a	n/a
4	TCF7L2	chr7:100422927-100423680	PANC-1	pancreas:	n/a	chr7:100423585-100423594 chr7:100423124-100423138 chr7:100423583-100423597 chr7:100423586-100423596
5	CEBPB	chr7:100423282-100423546	K562	blood:	n/a	n/a
6	MYC	chr7:100423327-100423949	K562	blood:	n/a	n/a
7	MYC	chr7:100423274-100423641	MCF10A-Er-Src	breast:	n/a	n/a
8	TEAD4	chr7:100423088-100424235	K562	blood:	n/a	n/a
9	RAD21	chr7:100422224-100424797	SK-N-SH	brain:	n/a	chr7:100423965-100423978
10	CBX3	chr7:100422966-100423555	K562	blood:	n/a	n/a
11	CTCF	chr7:100423300-100423450	SK-N-SH_RA	brain:	n/a	n/a
12	MYC	chr7:100423022-100423641	MCF10A-Er-Src	breast:	n/a	n/a
13	JUN	chr7:100422826-100426015	K562	blood:	n/a	n/a
14	MXI1	chr7:100422162-100426238	IMR90	lung:	n/a	n/a
15	ZNF143	chr7:100423256-100423387	K562	blood:	n/a	n/a
16	POLR2A	chr7:100423248-100424040	PFSK-1	brain:	n/a	n/a
17	SPI1	chr7:100423181-100423743	HL-60	blood:	n/a	chr7:100423496-100423503
18	MAX	chr7:100422960-100423703	K562	blood:	n/a	n/a
19	CTCF	chr7:100422524-100425952	SK-N-SH	brain:	n/a	chr7:100425569-100425590 chr7:100424947-100424956 chr7:100424800-100424813 chr7:100425592-100425613 chr7:100425599-100425612 chr7:100425602-100425610 chr7:100424039-100424052 chr7:100425597-100425615
20	HDAC2	chr7:100423015-100423516	K562	blood:	n/a	n/a
21	POLR2A	chr7:100423222-100423427	HepG2	liver:	n/a	n/a
22	RAD21	chr7:100423361-100424093	HCT-116	colon:	n/a	chr7:100423965-100423978
23	MYC	chr7:100423078-100423891	K562	blood:	n/a	n/a
24	POLR2A	chr7:100422982-100423989	PANC-1	pancreas:	n/a	n/a
25	MYC	chr7:100423350-100423884	NB4	blood:	n/a	n/a
26	NR2F2	chr7:100422581-100423366	MCF-7	breast:	n/a	n/a
27	SIN3AK20	chr7:100422540-100423928	MCF-7	breast:	n/a	n/a
28	MXI1	chr7:100422978-100423588	K562	blood:	n/a	n/a
29	CEBPB	chr7:100423268-100423493	HepG2	liver:	n/a	n/a
30	POLR2A	chr7:100422235-100427552	HUVEC	blood vessel:	n/a	n/a
31	SIN3AK20	chr7:100422470-100426001	MCF-7	breast:	n/a	n/a
32	NR2F2	chr7:100423113-100424459	K562	blood:	n/a	n/a
33	SIN3AK20	chr7:100422962-100424121	K562	blood:	n/a	n/a
34	SMC3	chr7:100422082-100425966	SK-N-SH	brain:	n/a	chr7:100425461-100425475 chr7:100425599-100425613 chr7:100423470-100423478 chr7:100423840-100423848 chr7:100423796-100423804
35	MXI1	chr7:100421736-100424014	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr7:100422030-100424812	SK-N-MC	brain:	n/a	n/a
37	CEBPB	chr7:100423316-100423489	A549	lung:	n/a	n/a
38	MAZ	chr7:100422949-100425857	IMR90	lung:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
39	UBTF	chr7:100423084-100425834	K562	blood:	n/a	n/a
40	STAT3	chr7:100423023-100423451	MCF10A-Er-Src	breast:	n/a	n/a
41	SPI1	chr7:100423331-100423573	K562	blood:	n/a	chr7:100423496-100423503

No.	Distal block	Cell Line	Cell type
1	chr7:100397045..100397664-chr7:100423201..100424033,3	MCF-7	breast:
2	chr7:100422826..100425783-chr7:100447402..100452140,5	K562	blood:
3	chr7:100422507..100426422-chr7:100448675..100454510,8	MCF-7	breast:
4	chr7:100421802..100424702-chr7:100482689..100484467,2	MCF-7	breast:
5	chr7:100422507..100425208-chr7:100700393..100702455,2	MCF-7	breast:
6	chr7:100026028..100027729-chr7:100422435..100425262,2	MCF-7	breast:
7	chr7:100422126..100425537-chr7:100471170..100475559,4	MCF-7	breast:
8	chr7:100317734..100318502-chr7:100423320..100424248,2	MCF-7	breast:
9	chr7:100410343..100413835-chr7:100422249..100426210,7	MCF-7	breast:
10	chr7:100208147..100211165-chr7:100422696..100426389,3	MCF-7	breast:
11	chr7:100403718..100405403-chr7:100421041..100423553,2	MCF-7	breast:

Variant related genes	Relation type
EPHB4	TF binding region
SLC12A9	TF binding region
RN7SL750P	TF binding region
ENSG00000196411	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000222636	Chromatin interaction
ENSG00000130427	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000087087	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs221005	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs314307	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs314308	1.00[CHB][hapmap]
rs314311	1.00[CHD][hapmap];0.83[ASN][1000 genomes]
rs314312	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs314314	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314316	1.00[CHD][hapmap];0.94[ASN][1000 genomes]
rs314317	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314318	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314323	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs314324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs314346	1.00[CHD][hapmap]
rs314354	0.86[EUR][1000 genomes]
rs314361	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv888796	chr7:100313420-100423365	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
10	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
11	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
12	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
13	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
14	nsv888800	chr7:100411278-100436446	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers 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	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
16	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
17	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs314313	C7orf59	cis	parietal	SCAN
rs314313	ZNF3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100413600-100423400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:100421800-100423400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:100421800-100424000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:100421800-100425000	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr7:100422000-100423600	Flanking Active TSS	HUVEC	blood vessel
6	chr7:100422200-100423400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:100422200-100423400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr7:100422200-100423400	Enhancers	Spleen	Spleen
9	chr7:100422200-100423600	Flanking Active TSS	Ovary	ovary
10	chr7:100422200-100423600	Flanking Active TSS	NHEK	skin
11	chr7:100422200-100424200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
12	chr7:100422200-100424600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
13	chr7:100422200-100426400	Active TSS	Right Ventricle	heart
14	chr7:100422400-100423400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:100422400-100423400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
16	chr7:100422400-100423400	Flanking Active TSS	Gastric	stomach
17	chr7:100422400-100423600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:100422400-100423600	Flanking Active TSS	HepG2	liver
19	chr7:100422400-100424000	Flanking Active TSS	Colonic Mucosa	Colon
20	chr7:100422400-100424400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr7:100422400-100424400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr7:100422400-100424400	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr7:100422400-100425600	Active TSS	Lung	lung
24	chr7:100422400-100425800	Active TSS	Left Ventricle	heart
25	chr7:100422400-100426400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:100422400-100426400	Active TSS	Right Atrium	heart
27	chr7:100422600-100424200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr7:100422600-100424200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
29	chr7:100422600-100424400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:100422600-100424400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:100422600-100424400	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr7:100422600-100424800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr7:100422600-100426400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:100422800-100423400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr7:100422800-100423400	Flanking Active TSS	Esophagus	oesophagus
36	chr7:100422800-100423400	Active TSS	HSMMtube	muscle
37	chr7:100422800-100423600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:100422800-100423600	Flanking Active TSS	Placenta	Placenta
39	chr7:100422800-100423600	Flanking Active TSS	NHDF-Ad	bronchial
40	chr7:100422800-100423800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:100422800-100423800	Flanking Active TSS	Pancreas	Pancrea
42	chr7:100422800-100424000	Active TSS	Psoas Muscle	Psoas
43	chr7:100422800-100424000	Flanking Active TSS	NH-A	brain
44	chr7:100422800-100424200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:100422800-100424200	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr7:100422800-100424200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr7:100422800-100424200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr7:100422800-100424200	Transcr. at gene 5' and 3'	K562	blood
49	chr7:100422800-100424400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr7:100422800-100424400	Flanking Active TSS	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links