Variant report

Variant	rs73715414
Chromosome Location	chr7:111720674-111720675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111719751..111721639-chr7:111721753..111724570,2	K562	blood:
2	chr7:111719879..111722087-chr7:111722721..111725922,3	MCF-7	breast:
3	chr7:111706366..111708870-chr7:111719748..111721379,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs55935391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56237403	1.00[AMR][1000 genomes]
rs57297756	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61662262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715413	1.00[AFR][1000 genomes]
rs73715415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715416	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715420	0.84[AFR][1000 genomes]
rs73715422	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715472	1.00[AMR][1000 genomes]
rs73715473	1.00[AMR][1000 genomes]
rs73715474	1.00[AMR][1000 genomes]
rs73715492	1.00[AMR][1000 genomes]
rs73715502	1.00[AMR][1000 genomes]
rs73717512	1.00[AMR][1000 genomes]
rs73717948	1.00[AMR][1000 genomes]
rs73717949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717953	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7784460	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv533924	chr7:111529515-111784369	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv1023261	chr7:111593889-111780337	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv1016663	chr7:111622107-111813223	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv1034249	chr7:111656902-111748774	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv539089	chr7:111656902-111748774	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv889054	chr7:111666943-111739842	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv1844097	chr7:111686153-111723488	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111713000-111723800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:111713200-111724000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:111713200-111742400	Weak transcription	Right Ventricle	heart
4	chr7:111715000-111721000	Weak transcription	Lung	lung
5	chr7:111715200-111726600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:111717000-111720800	Weak transcription	Adipose Nuclei	Adipose
7	chr7:111717800-111723800	Weak transcription	Brain Angular Gyrus	brain
8	chr7:111718600-111721600	Enhancers	Fetal Lung	lung
9	chr7:111718600-111721800	Enhancers	Liver	Liver
10	chr7:111718800-111721000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:111719200-111721000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr7:111719200-111721000	Enhancers	Brain Substantia Nigra	brain
13	chr7:111719200-111721000	Enhancers	HepG2	liver
14	chr7:111719200-111721400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:111719200-111721400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:111719200-111721600	Enhancers	Hela-S3	cervix
17	chr7:111719400-111720800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:111719400-111721400	Enhancers	NHEK	skin
19	chr7:111719600-111720800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:111719600-111721000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:111719600-111721400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:111719600-111722000	Enhancers	Primary B cells from peripheral blood	blood
23	chr7:111719800-111720800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr7:111719800-111720800	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:111719800-111721000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:111719800-111722600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:111719800-111722600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:111719800-111727800	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:111720000-111720800	Enhancers	Primary B cells from cord blood	blood
30	chr7:111720000-111720800	Active TSS	A549	lung
31	chr7:111720200-111720800	Enhancers	Primary hematopoietic stem cells	blood
32	chr7:111720200-111720800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:111720200-111721600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:111720400-111721000	Enhancers	Primary T cells from cord blood	blood
35	chr7:111720400-111721000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:111720400-111721400	Enhancers	HMEC	breast
37	chr7:111720400-111721600	Flanking Active TSS	GM12878-XiMat	blood
38	chr7:111720400-111721600	Flanking Active TSS	HUVEC	blood vessel
39	chr7:111720600-111720800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr7:111720600-111720800	Active TSS	NHLF	lung
41	chr7:111720600-111721000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:111720600-111721000	Enhancers	Aorta	Aorta
43	chr7:111720600-111721200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr7:111720600-111721400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr7:111720600-111721400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:111720600-111721400	Active TSS	Fetal Brain Male	brain
47	chr7:111720600-111721400	Enhancers	Fetal Kidney	kidney
48	chr7:111720600-111721400	Enhancers	NHDF-Ad	bronchial
49	chr7:111720600-111721600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:111720600-111721600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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