Variant report

Variant	rs12672177
Chromosome Location	chr7:102026785-102026786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:102026638-102027765	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:102024593..102028556-chr7:102030143..102033068,3	K562	blood:
2	chr7:102024593..102027310-chr7:102030143..102032839,2	K562	blood:
3	chr7:102024129..102027561-chr7:102028971..102031437,3	MCF-7	breast:
4	chr7:102022926..102025326-chr7:102026245..102029243,2	K562	blood:
5	chr7:102024320..102028581-chr7:102034948..102036813,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000239486	TF binding region
ENSG00000239486	Chromatin interaction
ENSG00000128563	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10229440	0.90[ASN][1000 genomes]
rs1134521	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1617152	0.81[ASN][1000 genomes]
rs17135196	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2950183	0.95[ASN][1000 genomes]
rs3823656	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4584084	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55823933	0.90[ASN][1000 genomes]
rs55893391	0.89[ASN][1000 genomes]
rs55953136	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56411810	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62482947	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62482951	0.90[ASN][1000 genomes]
rs62482952	0.90[ASN][1000 genomes]
rs62482953	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62483800	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6958346	0.92[ASN][1000 genomes]
rs712844	0.88[ASN][1000 genomes]
rs811680	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
12	esv1818954	chr7:101957513-102328097	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv1829377	chr7:101970299-102330884	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv831083	chr7:101981005-102295869	Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	esv1806297	chr7:101981544-102330884	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	esv1810415	chr7:101993063-102375950	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS 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 lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	esv1811751	chr7:101993063-102375950	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	esv1829118	chr7:101993063-102375950	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	esv1833155	chr7:101993063-102375950	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12672177	PILRA	cis	parietal	SCAN
rs12672177	FBXO24	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102005000-102036200	Weak transcription	Aorta	Aorta
2	chr7:102005000-102036200	Weak transcription	Small Intestine	intestine
3	chr7:102005200-102036000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:102005200-102036000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:102005400-102036000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:102005400-102036200	Weak transcription	Brain Angular Gyrus	brain
7	chr7:102005400-102036200	Weak transcription	Psoas Muscle	Psoas
8	chr7:102012800-102031200	Strong transcription	Fetal Muscle Leg	muscle
9	chr7:102012800-102034600	Strong transcription	Fetal Stomach	stomach
10	chr7:102013600-102035800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:102015800-102036000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:102016400-102028200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr7:102016800-102029200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr7:102017000-102027800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:102017200-102028200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:102017200-102031000	Strong transcription	Fetal Intestine Small	intestine
17	chr7:102017200-102031200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:102017400-102036200	Weak transcription	Right Atrium	heart
19	chr7:102017600-102028200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:102018400-102035800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:102018800-102027200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:102018800-102031000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:102018800-102031000	Weak transcription	NHEK	skin
24	chr7:102018800-102031200	Weak transcription	Pancreas	Pancrea
25	chr7:102018800-102032800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:102018800-102036000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:102018800-102036000	Weak transcription	Colonic Mucosa	Colon
28	chr7:102018800-102036200	Weak transcription	Esophagus	oesophagus
29	chr7:102019000-102036200	Weak transcription	Gastric	stomach
30	chr7:102020200-102029200	Strong transcription	K562	blood
31	chr7:102020400-102027400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:102020600-102035800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:102021000-102031200	Weak transcription	Lung	lung
34	chr7:102021000-102035600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:102021000-102035800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:102021000-102036000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:102021200-102032200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:102021600-102027200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:102021600-102032400	Weak transcription	Brain Germinal Matrix	brain
40	chr7:102021600-102036000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:102021800-102027200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:102021800-102032400	Weak transcription	Brain Substantia Nigra	brain
43	chr7:102022000-102027200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:102022200-102031200	Weak transcription	HepG2	liver
45	chr7:102022400-102027000	Weak transcription	Primary T cells from cord blood	blood
46	chr7:102022400-102027000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr7:102022400-102027000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr7:102022400-102027400	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:102022400-102027400	Weak transcription	HSMMtube	muscle
50	chr7:102022400-102027600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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