Variant report

Variant	rs57322794
Chromosome Location	chr7:100468820-100468821
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	POLR2A	chr7:100467859-100468865	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr7:100468550-100469322	K562	blood:	n/a	n/a
3	POLR2A	chr7:100468043-100469471	K562	blood:	n/a	n/a
4	POLR2A	chr7:100467547-100468878	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:100468709-100468875	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:100467710-100469443	K562	blood:	n/a	n/a

Variant related genes	Relation type
SRRT	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10247855	1.00[ASN][1000 genomes]
rs10261229	1.00[ASN][1000 genomes]
rs11171	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17228616	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1799805	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2904852	1.00[ASN][1000 genomes]
rs34840477	1.00[ASN][1000 genomes]
rs4236546	1.00[ASN][1000 genomes]
rs4236547	1.00[ASN][1000 genomes]
rs4364565	1.00[ASN][1000 genomes]
rs4448204	1.00[ASN][1000 genomes]
rs4574778	1.00[ASN][1000 genomes]
rs55833792	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56696877	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56966144	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57753967	0.92[AFR][1000 genomes]
rs58194245	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61357484	0.87[AFR][1000 genomes]
rs6465778	1.00[ASN][1000 genomes]
rs6959542	1.00[ASN][1000 genomes]
rs71557210	1.00[ASN][1000 genomes]
rs73714203	0.95[AFR][1000 genomes]
rs73714210	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7636	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787389	1.00[ASN][1000 genomes]
rs7801190	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808329	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811415	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100461800-100471400	Weak transcription	HepG2	liver
2	chr7:100465600-100471800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:100465600-100471800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:100465600-100471800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:100465600-100472000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:100465800-100469400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:100465800-100472000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:100466000-100471600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr7:100466000-100471800	Weak transcription	Fetal Brain Male	brain
10	chr7:100466200-100469000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:100466200-100471600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:100466200-100471600	Weak transcription	Brain Angular Gyrus	brain
13	chr7:100466200-100471600	Weak transcription	Brain Germinal Matrix	brain
14	chr7:100466200-100472000	Weak transcription	Fetal Kidney	kidney
15	chr7:100466400-100471600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr7:100466400-100471600	Weak transcription	Right Atrium	heart
17	chr7:100466400-100471800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:100466400-100471800	Weak transcription	Fetal Heart	heart
19	chr7:100466600-100471000	Strong transcription	Spleen	Spleen
20	chr7:100466600-100471400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr7:100466600-100471600	Weak transcription	Fetal Brain Female	brain
22	chr7:100466600-100471800	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr7:100466600-100471800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:100466600-100471800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:100466600-100471800	Weak transcription	Primary B cells from cord blood	blood
26	chr7:100466600-100472000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:100466800-100469400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:100466800-100470000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr7:100466800-100471400	Weak transcription	Stomach Mucosa	stomach
30	chr7:100466800-100471600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:100466800-100471600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:100466800-100471800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:100467000-100470000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:100467000-100470800	Weak transcription	GM12878-XiMat	blood
35	chr7:100467000-100471000	Strong transcription	NHEK	skin
36	chr7:100467000-100471400	Strong transcription	Fetal Intestine Small	intestine
37	chr7:100467000-100471400	Strong transcription	Fetal Muscle Leg	muscle
38	chr7:100467000-100471400	Strong transcription	Fetal Stomach	stomach
39	chr7:100467000-100471400	Strong transcription	Dnd41	blood
40	chr7:100467000-100471600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:100467000-100471600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:100467000-100471600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:100467000-100471600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr7:100467200-100471600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:100467200-100471800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:100467200-100471800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:100467400-100471600	Strong transcription	Fetal Thymus	thymus
48	chr7:100467600-100471400	Strong transcription	Brain Cingulate Gyrus	brain
49	chr7:100467600-100471600	Strong transcription	HMEC	breast
50	chr7:100467600-100471800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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