Variant report

Variant	rs712838
Chromosome Location	chr7:101917140-101917141
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	USF1	chr7:101917010-101917710	ECC-1	luminal epithelium:	n/a	chr7:101917201-101917212
2	MAX	chr7:101916953-101917568	K562	blood:	n/a	chr7:101917350-101917361 chr7:101917351-101917360 chr7:101917349-101917362 chr7:101917351-101917360
3	ELF1	chr7:101916394-101917906	MCF-7	breast:	n/a	n/a
4	POLR2A	chr7:101917090-101917792	MCF-7	breast:	n/a	n/a
5	ATF3	chr7:101917061-101917458	K562	blood:	n/a	n/a
6	JUND	chr7:101917077-101917559	A549	lung:	n/a	n/a
7	BHLHE40	chr7:101917076-101917442	A549	lung:	n/a	n/a
8	POLR2A	chr7:101917134-101917351	MCF-7	breast:	n/a	n/a
9	POLR2A	chr7:101917062-101917484	K562	blood:	n/a	n/a
10	USF1	chr7:101916913-101917656	SK-N-SH	brain:	n/a	chr7:101917201-101917212
11	HDAC2	chr7:101917003-101917528	HepG2	liver:	n/a	n/a
12	JUND	chr7:101917130-101917511	Hela-S3	cervix:	n/a	n/a
13	RCOR1	chr7:101917033-101917525	HepG2	liver:	n/a	n/a
14	MYC	chr7:101917071-101917543	K562	blood:	n/a	chr7:101917350-101917361 chr7:101917351-101917360 chr7:101917349-101917362 chr7:101917351-101917360
15	POLR2A	chr7:101916993-101917651	HCT-116	colon:	n/a	n/a
16	MAX	chr7:101916774-101917807	MCF-7	breast:	n/a	chr7:101917350-101917361 chr7:101917351-101917360 chr7:101917349-101917362 chr7:101917351-101917360 chr7:101917695-101917704
17	BHLHE40	chr7:101916969-101917623	HepG2	liver:	n/a	n/a
18	RFX5	chr7:101917086-101917399	HepG2	liver:	n/a	n/a
19	E2F6	chr7:101917097-101917423	K562	blood:	n/a	n/a
20	EP300	chr7:101916989-101917494	HepG2	liver:	n/a	chr7:101917405-101917418
21	MYBL2	chr7:101916701-101917576	HepG2	liver:	n/a	n/a
22	BHLHE40	chr7:101917027-101917539	K562	blood:	n/a	n/a
23	MYC	chr7:101917091-101917510	HepG2	liver:	n/a	chr7:101917350-101917361 chr7:101917351-101917360 chr7:101917349-101917362 chr7:101917351-101917360
24	USF1	chr7:101917023-101917505	SK-N-SH_RA	brain:	n/a	chr7:101917201-101917212
25	FOS	chr7:101917138-101917547	MCF10A-Er-Src	breast:	n/a	n/a
26	USF1	chr7:101916990-101917566	A549	lung:	n/a	chr7:101917201-101917212
27	MAX	chr7:101917017-101917596	Hela-S3	cervix:	n/a	chr7:101917350-101917361 chr7:101917351-101917360 chr7:101917349-101917362 chr7:101917351-101917360
28	BCL3	chr7:101916843-101917445	A549	lung:	n/a	n/a
29	HNF4A	chr7:101917001-101917557	HepG2	liver:	n/a	chr7:101917292-101917307 chr7:101917294-101917306 chr7:101917294-101917307 chr7:101917294-101917306 chr7:101917294-101917306 chr7:101917294-101917306 chr7:101917292-101917307 chr7:101917293-101917306 chr7:101917294-101917307
30	YY1	chr7:101917014-101917503	HepG2	liver:	n/a	chr7:101917388-101917407
31	USF1	chr7:101917013-101917618	SK-N-SH	brain:	n/a	chr7:101917201-101917212
32	MXI1	chr7:101917091-101917555	IMR90	lung:	n/a	n/a
33	HNF4A	chr7:101917070-101917425	HepG2	liver:	n/a	chr7:101917292-101917307 chr7:101917294-101917306 chr7:101917294-101917307 chr7:101917294-101917306 chr7:101917294-101917306 chr7:101917294-101917306 chr7:101917292-101917307 chr7:101917293-101917306 chr7:101917294-101917307
34	TBP	chr7:101917133-101917408	K562	blood:	n/a	n/a
35	POLR2A	chr7:101916985-101917553	HepG2	liver:	n/a	n/a
36	SP1	chr7:101916937-101917564	HepG2	liver:	n/a	chr7:101917401-101917411 chr7:101917417-101917427 chr7:101917400-101917412 chr7:101917401-101917411 chr7:101917417-101917427
37	MYC	chr7:101917079-101917650	Hela-S3	cervix:	n/a	chr7:101917350-101917361 chr7:101917351-101917360 chr7:101917349-101917362 chr7:101917351-101917360
38	USF2	chr7:101917015-101917537	HepG2	liver:	n/a	chr7:101917349-101917360
39	USF1	chr7:101916989-101917564	A549	lung:	n/a	chr7:101917201-101917212
40	MAX	chr7:101916642-101917835	HepG2	liver:	n/a	chr7:101917350-101917361 chr7:101917351-101917360 chr7:101917349-101917362 chr7:101917351-101917360 chr7:101917695-101917704
41	USF1	chr7:101916882-101917585	HepG2	liver:	n/a	chr7:101917201-101917212
42	POLR2A	chr7:101917080-101917312	HepG2	liver:	n/a	n/a
43	MAX	chr7:101916931-101917771	HepG2	liver:	n/a	chr7:101917350-101917361 chr7:101917351-101917360 chr7:101917349-101917362 chr7:101917351-101917360 chr7:101917695-101917704
44	SIN3AK20	chr7:101917029-101917524	K562	blood:	n/a	n/a
45	ATF3	chr7:101917051-101917430	HepG2	liver:	n/a	n/a
46	USF1	chr7:101916737-101917798	HCT-116	colon:	n/a	chr7:101917201-101917212
47	USF1	chr7:101916933-101917580	A549	lung:	n/a	chr7:101917201-101917212
48	MXI1	chr7:101917037-101917622	Hela-S3	cervix:	n/a	n/a
49	JUND	chr7:101917068-101917561	K562	blood:	n/a	n/a
50	USF1	chr7:101917066-101917518	H1-hESC	embryonic stem cell:	n/a	chr7:101917201-101917212

No.	Distal block	Cell Line	Cell type
1	chr7:101912928..101918938-chr7:101926951..101931541,5	K562	blood:
2	chr7:101456296..101461488-chr7:101913983..101918398,7	MCF-7	breast:
3	chr7:101914536..101919891-chr7:101927361..101932016,8	MCF-7	breast:
4	chr7:101455693..101458203-chr7:101915599..101917150,2	MCF-7	breast:
5	chr7:101613081..101615918-chr7:101915707..101917227,2	MCF-7	breast:
6	chr7:101916210..101918450-chr7:102034247..102037005,3	MCF-7	breast:

Variant related genes	Relation type
CUX1	TF binding region
ENSG00000128563	Chromatin interaction
ENSG00000257923	Chromatin interaction
ENSG00000160999	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1613236	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1725603	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1725604	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1734733	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1734735	0.85[ASN][1000 genomes]
rs712837	0.86[ASN][1000 genomes]
rs712839	0.86[ASN][1000 genomes]
rs712840	0.85[ASN][1000 genomes]
rs803063	0.87[ASN][1000 genomes]
rs803064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs803065	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs803069	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs803082	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	nsv464662	chr7:101912320-101949128	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv464663	chr7:101912320-101949128	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv607996	chr7:101912320-101949128	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv607997	chr7:101912320-101949128	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
5	esv2758126	chr7:101912320-102005026	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	esv2759548	chr7:101912320-102005026	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
7	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised 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	61 gene(s)	inside rSNPs	diseases
8	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised 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	61 gene(s)	inside rSNPs	diseases
13	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
14	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
16	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
17	esv1822373	chr7:101913187-101969458	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers 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 miRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101892800-101928000	Weak transcription	Esophagus	oesophagus
2	chr7:101892800-101928400	Weak transcription	Right Ventricle	heart
3	chr7:101897600-101928000	Weak transcription	Primary T cells from cord blood	blood
4	chr7:101898000-101928200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:101898200-101922600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:101899800-101922800	Weak transcription	Right Atrium	heart
7	chr7:101904600-101922800	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:101904600-101928200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:101908000-101917400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:101908000-101929200	Weak transcription	Gastric	stomach
11	chr7:101908400-101922600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:101910200-101928400	Weak transcription	Liver	Liver
13	chr7:101912200-101922600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:101912400-101922600	Weak transcription	Fetal Thymus	thymus
15	chr7:101914200-101923000	Weak transcription	Fetal Brain Female	brain
16	chr7:101914400-101923000	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:101915000-101918000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:101915400-101917400	Enhancers	Fetal Intestine Large	intestine
19	chr7:101915400-101917600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:101915400-101917800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:101915400-101918000	Flanking Active TSS	HepG2	liver
22	chr7:101915400-101918200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:101915400-101918200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:101915400-101918800	Enhancers	Stomach Mucosa	stomach
25	chr7:101915600-101917600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:101915600-101917600	Weak transcription	Fetal Lung	lung
27	chr7:101915600-101922600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:101915600-101922600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:101915600-101922800	Weak transcription	Adipose Nuclei	Adipose
30	chr7:101915600-101923000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:101915600-101923000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:101915800-101928000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:101915800-101929000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:101916000-101917400	Genic enhancers	Fetal Intestine Small	intestine
35	chr7:101916000-101922600	Weak transcription	Fetal Muscle Leg	muscle
36	chr7:101916000-101922600	Weak transcription	Placenta	Placenta
37	chr7:101916000-101922600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:101916000-101924800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:101916400-101917600	Enhancers	K562	blood
40	chr7:101916400-101918600	Enhancers	Duodenum Mucosa	Duodenum
41	chr7:101916600-101917200	Enhancers	Osteobl	bone
42	chr7:101916600-101917600	Enhancers	NH-A	brain
43	chr7:101916600-101917600	Enhancers	NHLF	lung
44	chr7:101916600-101917800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr7:101916800-101917200	Flanking Active TSS	A549	lung
46	chr7:101916800-101917600	Enhancers	Colonic Mucosa	Colon
47	chr7:101916800-101917800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr7:101916800-101917800	Flanking Active TSS	Hela-S3	cervix
49	chr7:101916800-101918200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr7:101916800-101919000	Strong transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links