Variant report

Variant	rs2974957
Chromosome Location	chr7:101916798-101916799
allele	A/C
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	ELF1	chr7:101916394-101917906	MCF-7	breast:	n/a	n/a
2	MAX	chr7:101916774-101917807	MCF-7	breast:	n/a	chr7:101917350-101917361 chr7:101917351-101917360 chr7:101917349-101917362 chr7:101917351-101917360 chr7:101917695-101917704
3	MYBL2	chr7:101916701-101917576	HepG2	liver:	n/a	n/a
4	MAX	chr7:101916642-101917835	HepG2	liver:	n/a	chr7:101917350-101917361 chr7:101917351-101917360 chr7:101917349-101917362 chr7:101917351-101917360 chr7:101917695-101917704
5	USF1	chr7:101916737-101917798	HCT-116	colon:	n/a	chr7:101917201-101917212
6	USF1	chr7:101916759-101917884	HCT-116	colon:	n/a	chr7:101917201-101917212
7	MAX	chr7:101916742-101917886	A549	lung:	n/a	chr7:101917350-101917361 chr7:101917351-101917360 chr7:101917349-101917362 chr7:101917351-101917360 chr7:101917695-101917704
8	NR2F2	chr7:101916403-101917692	MCF-7	breast:	n/a	n/a
9	MAX	chr7:101916798-101917841	HCT-116	colon:	n/a	chr7:101917350-101917361 chr7:101917351-101917360 chr7:101917349-101917362 chr7:101917351-101917360 chr7:101917695-101917704
10	JUN	chr7:101916753-101917702	K562	blood:	n/a	n/a

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
ENSG00000160999	Chromatin interaction
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10239485	1.00[ASN][1000 genomes]
rs1725601	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2906711	0.82[EUR][1000 genomes]
rs2906713	0.89[CEU][hapmap]
rs2960235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2974958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2974959	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8950	1.00[AFR][1000 genomes];0.84[EUR][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:56 , 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	chr7:101894000-101916800	Weak transcription	Lung	lung
4	chr7:101897600-101928000	Weak transcription	Primary T cells from cord blood	blood
5	chr7:101898000-101928200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:101898200-101922600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:101899800-101922800	Weak transcription	Right Atrium	heart
8	chr7:101902000-101917000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:101904600-101922800	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:101904600-101928200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:101908000-101917400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:101908000-101929200	Weak transcription	Gastric	stomach
13	chr7:101908400-101922600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:101910200-101928400	Weak transcription	Liver	Liver
15	chr7:101912200-101922600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:101912400-101922600	Weak transcription	Fetal Thymus	thymus
17	chr7:101914200-101923000	Weak transcription	Fetal Brain Female	brain
18	chr7:101914400-101923000	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:101915000-101918000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:101915400-101916800	Enhancers	A549	lung
21	chr7:101915400-101916800	Enhancers	Hela-S3	cervix
22	chr7:101915400-101917400	Enhancers	Fetal Intestine Large	intestine
23	chr7:101915400-101917600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:101915400-101917800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:101915400-101918000	Flanking Active TSS	HepG2	liver
26	chr7:101915400-101918200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:101915400-101918200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:101915400-101918800	Enhancers	Stomach Mucosa	stomach
29	chr7:101915600-101916800	Weak transcription	Colonic Mucosa	Colon
30	chr7:101915600-101916800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr7:101915600-101917600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:101915600-101917600	Weak transcription	Fetal Lung	lung
33	chr7:101915600-101922600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:101915600-101922600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:101915600-101922800	Weak transcription	Adipose Nuclei	Adipose
36	chr7:101915600-101923000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:101915600-101923000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:101915800-101917000	Weak transcription	Fetal Stomach	stomach
39	chr7:101915800-101928000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:101915800-101929000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:101916000-101917000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:101916000-101917000	Weak transcription	HMEC	breast
43	chr7:101916000-101917400	Genic enhancers	Fetal Intestine Small	intestine
44	chr7:101916000-101922600	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:101916000-101922600	Weak transcription	Placenta	Placenta
46	chr7:101916000-101922600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:101916000-101924800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:101916200-101916800	Active TSS	Spleen	Spleen
49	chr7:101916400-101917000	Weak transcription	HSMM	muscle
50	chr7:101916400-101917600	Enhancers	K562	blood

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