Variant report

Variant	rs73724516
Chromosome Location	chr7:107087128-107087129
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr7:107087096-107087331	IMR90	lung:	n/a	n/a
2	BATF	chr7:107087016-107087291	GM12878	blood:	n/a	chr7:107087175-107087186
3	MAX	chr7:107087029-107087267	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr7:107087092-107087158	ProgFib	skin:	n/a	n/a
5	POLR2A	chr7:107086951-107087636	K562	blood:	n/a	n/a
6	FOS	chr7:107087044-107087853	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr7:107087058-107087176	ProgFib	skin:	n/a	n/a
8	MYC	chr7:107087008-107087208	MCF10A-Er-Src	breast:	n/a	n/a
9	MAX	chr7:107087015-107087375	HCT-116	colon:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:107085910..107087542-chr7:107093457..107095256,2	K562	blood:
2	chr7:107084953..107087510-chr7:107092468..107094890,2	K562	blood:
3	chr7:107080847..107083435-chr7:107084345..107087287,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC26A3-2	chr7:107084197-107087887	refGeneNc_3039_NR_028137

No data

Variant related genes	Relation type
ENSG00000228341	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17154159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17154167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55840928	0.81[AFR][1000 genomes]
rs56927744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58218888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58800910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59865183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60193047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724068	0.81[AFR][1000 genomes]
rs73724069	0.81[AFR][1000 genomes]
rs73724070	0.81[AFR][1000 genomes]
rs73724517	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724519	1.00[AFR][1000 genomes]
rs73724520	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724523	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724525	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3383027	chr7:106802625-107096474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv1832266	chr7:106961882-107136320	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	nsv1019963	chr7:107033342-107188641	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv539052	chr7:107033342-107188641	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107028200-107103800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:107035800-107133000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:107037800-107102200	Weak transcription	Ovary	ovary
4	chr7:107038800-107100600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:107050600-107102400	Weak transcription	Dnd41	blood
6	chr7:107050800-107100200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:107051800-107088600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr7:107052000-107098600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:107052600-107126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:107065000-107100600	Weak transcription	Thymus	Thymus
11	chr7:107067600-107119800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:107068200-107098400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:107068400-107104000	Weak transcription	Pancreas	Pancrea
14	chr7:107072400-107100000	Weak transcription	Gastric	stomach
15	chr7:107073000-107103600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:107074400-107090000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:107076200-107099600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr7:107078400-107092400	Weak transcription	Fetal Thymus	thymus
19	chr7:107078800-107092400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:107079600-107108600	Weak transcription	Right Ventricle	heart
21	chr7:107080400-107099800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr7:107081000-107102600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:107081200-107103600	Weak transcription	Adipose Nuclei	Adipose
24	chr7:107082000-107100600	Weak transcription	Esophagus	oesophagus
25	chr7:107082800-107097800	Weak transcription	Fetal Intestine Small	intestine
26	chr7:107082800-107101000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:107082800-107104200	Weak transcription	Left Ventricle	heart
28	chr7:107082800-107109000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:107083000-107089000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr7:107083000-107089800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr7:107083400-107087400	Weak transcription	Fetal Heart	heart
32	chr7:107083400-107104200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:107083400-107104600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:107083400-107115400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:107084400-107109200	Weak transcription	Fetal Intestine Large	intestine
36	chr7:107085400-107101600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:107085800-107087200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:107085800-107098200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:107086200-107087800	Strong transcription	Primary B cells from cord blood	blood
40	chr7:107086400-107087800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:107086400-107090000	Strong transcription	Primary T cells from cord blood	blood
42	chr7:107086800-107087200	Enhancers	NHEK	skin
43	chr7:107086800-107087800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:107086800-107087800	Strong transcription	Aorta	Aorta
45	chr7:107086800-107087800	Enhancers	NHDF-Ad	bronchial
46	chr7:107086800-107088000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:107086800-107088000	Enhancers	HMEC	breast
48	chr7:107086800-107098600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:107087000-107087600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:107087000-107087600	Enhancers	HSMM	muscle

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