Variant report

Variant	rs57403878
Chromosome Location	chr7:99704487-99704488
allele	C/T
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	chr7:99704305-99704913	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:99704174-99704669	K562	blood:	n/a	n/a
3	POLR2A	chr7:99703677-99706267	K562	blood:	n/a	n/a
4	POLR2A	chr7:99703375-99706792	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr7:99704216-99704691	HL-60	blood:	n/a	n/a
6	POLR2A	chr7:99703976-99704608	K562	blood:	n/a	n/a
7	POLR2A	chr7:99703392-99704647	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:99704427-99704530	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99702646..99704565-chr7:99753499..99755583,2	K562	blood:

Variant related genes	Relation type
MCM7	TF binding region
ENSG00000146826	Chromatin interaction
ENSG00000266154	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs57028043	1.00[AMR][1000 genomes]
rs57128906	1.00[AMR][1000 genomes]
rs57263854	1.00[AMR][1000 genomes]
rs57662248	1.00[AMR][1000 genomes]
rs58602971	1.00[AMR][1000 genomes]
rs58604532	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58730747	1.00[AMR][1000 genomes]
rs59687495	1.00[AMR][1000 genomes]
rs59900957	1.00[AMR][1000 genomes]
rs60305755	1.00[AMR][1000 genomes]
rs60684015	1.00[AMR][1000 genomes]
rs60692359	1.00[AMR][1000 genomes]
rs61628190	1.00[AMR][1000 genomes]
rs61648592	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61687460	1.00[AMR][1000 genomes]
rs61742750	1.00[AMR][1000 genomes]
rs73395957	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397512	1.00[AMR][1000 genomes]
rs73401429	1.00[AMR][1000 genomes]
rs73403599	1.00[AMR][1000 genomes]
rs73405419	1.00[AMR][1000 genomes]
rs73405431	1.00[AMR][1000 genomes]
rs73405465	1.00[AMR][1000 genomes]
rs73405469	1.00[AMR][1000 genomes]
rs73405474	1.00[AMR][1000 genomes]
rs73405480	1.00[AMR][1000 genomes]
rs73405481	1.00[AMR][1000 genomes]
rs73409503	1.00[AMR][1000 genomes]
rs73409509	1.00[AMR][1000 genomes]
rs73409513	1.00[AMR][1000 genomes]
rs73409528	1.00[AMR][1000 genomes]
rs73409529	1.00[AMR][1000 genomes]
rs73409546	1.00[AMR][1000 genomes]
rs73409549	1.00[AMR][1000 genomes]
rs73409550	1.00[AMR][1000 genomes]
rs73409552	1.00[AMR][1000 genomes]
rs73411424	1.00[AMR][1000 genomes]
rs73411425	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7796719	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS 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	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
7	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers 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	1085 gene(s)	inside rSNPs	diseases
8	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99700200-99709400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:99700200-99716200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:99700200-99716400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:99700400-99705200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:99700400-99705800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr7:99700400-99705800	Weak transcription	GM12878-XiMat	blood
7	chr7:99700400-99707000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:99700400-99707400	Weak transcription	Fetal Kidney	kidney
9	chr7:99700400-99715800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:99700400-99716000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:99700400-99716200	Weak transcription	Psoas Muscle	Psoas
12	chr7:99700400-99716200	Weak transcription	Small Intestine	intestine
13	chr7:99700600-99705400	Weak transcription	HUVEC	blood vessel
14	chr7:99700600-99706000	Weak transcription	Fetal Heart	heart
15	chr7:99700600-99707400	Weak transcription	Hela-S3	cervix
16	chr7:99700600-99709200	Weak transcription	HepG2	liver
17	chr7:99700600-99710000	Strong transcription	Left Ventricle	heart
18	chr7:99700600-99711000	Weak transcription	Stomach Mucosa	stomach
19	chr7:99700600-99711400	Strong transcription	Placenta	Placenta
20	chr7:99700600-99712000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:99700600-99712000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:99700600-99712000	Strong transcription	Lung	lung
23	chr7:99700600-99712400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:99700600-99713000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:99700600-99713200	Strong transcription	Fetal Muscle Leg	muscle
26	chr7:99700600-99714600	Strong transcription	Fetal Intestine Small	intestine
27	chr7:99700600-99715200	Strong transcription	Fetal Stomach	stomach
28	chr7:99700600-99716200	Weak transcription	Fetal Brain Male	brain
29	chr7:99700800-99706400	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:99700800-99709800	Strong transcription	Ovary	ovary
31	chr7:99700800-99711800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:99700800-99711800	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr7:99700800-99712000	Strong transcription	Brain Cingulate Gyrus	brain
34	chr7:99700800-99712000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr7:99700800-99712200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:99700800-99712200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr7:99700800-99712600	Strong transcription	Colonic Mucosa	Colon
38	chr7:99700800-99713000	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:99700800-99713000	Strong transcription	Thymus	Thymus
40	chr7:99700800-99714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:99701000-99711600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr7:99701000-99711800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:99701000-99712000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr7:99701000-99712000	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr7:99701000-99712000	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:99701000-99712800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr7:99701000-99712800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:99701000-99712800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr7:99701000-99713000	Strong transcription	Fetal Thymus	thymus
50	chr7:99701000-99713000	Strong transcription	Spleen	Spleen

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