Variant report

Variant	rs28693893
Chromosome Location	chr7:27882827-27882828
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27877749..27879466-chr7:27881187..27883816,2	K562	blood:
2	chr7:27877025..27879466-chr7:27881187..27883994,3	K562	blood:
3	chr7:27701860..27704389-chr7:27881950..27883537,2	K562	blood:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10228505	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10228576	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10245536	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10281008	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10486562	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761430	0.94[ASN][1000 genomes]
rs11761467	0.94[ASN][1000 genomes]
rs11763610	0.88[ASN][1000 genomes]
rs11763861	0.88[ASN][1000 genomes]
rs11765837	0.88[ASN][1000 genomes]
rs11768570	0.88[ASN][1000 genomes]
rs11769157	0.88[ASN][1000 genomes]
rs11984239	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17150567	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155691	0.81[ASN][1000 genomes]
rs17155744	0.85[ASN][1000 genomes]
rs17155797	0.88[ASN][1000 genomes]
rs17155802	0.88[ASN][1000 genomes]
rs17155863	0.94[ASN][1000 genomes]
rs17692264	0.94[ASN][1000 genomes]
rs17692895	0.90[ASN][1000 genomes]
rs2285929	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28432782	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28805873	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56172733	0.88[ASN][1000 genomes]
rs58979783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61179177	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61446104	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62449628	0.88[ASN][1000 genomes]
rs62449630	0.88[ASN][1000 genomes]
rs62451066	0.88[ASN][1000 genomes]
rs62451068	0.94[ASN][1000 genomes]
rs62451070	0.94[ASN][1000 genomes]
rs62451071	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62451072	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62451074	1.00[ASN][1000 genomes]
rs62451078	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62454809	0.88[ASN][1000 genomes]
rs6979972	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73075305	0.94[ASN][1000 genomes]
rs73075333	0.94[ASN][1000 genomes]
rs73078746	0.88[ASN][1000 genomes]
rs73078762	0.88[ASN][1000 genomes]
rs739900	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7797888	0.89[AFR][1000 genomes];1.00[ASN][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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 target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv5677	chr7:27839504-27884505	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27847600-27885200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr7:27866000-27884600	Strong transcription	Primary B cells from cord blood	blood
3	chr7:27870600-27891800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:27871400-27889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:27872800-27886000	Weak transcription	HMEC	breast
6	chr7:27872800-27890000	Weak transcription	Fetal Lung	lung
7	chr7:27873800-27886200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:27874000-27883200	Strong transcription	Fetal Stomach	stomach
9	chr7:27874400-27888600	Weak transcription	Brain Angular Gyrus	brain
10	chr7:27875200-27913000	Weak transcription	Right Atrium	heart
11	chr7:27876200-27913000	Weak transcription	Fetal Heart	heart
12	chr7:27876400-27886200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:27878800-27884800	Weak transcription	Thymus	Thymus
14	chr7:27879000-27884800	Weak transcription	Fetal Intestine Large	intestine
15	chr7:27880000-27891600	Weak transcription	Osteobl	bone
16	chr7:27880400-27884400	Enhancers	Fetal Brain Female	brain
17	chr7:27880400-27891000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:27880600-27883000	Weak transcription	Fetal Thymus	thymus
19	chr7:27880600-27883600	Weak transcription	Left Ventricle	heart
20	chr7:27880600-27889000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:27880600-27903000	Weak transcription	Lung	lung
22	chr7:27880600-27913600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:27880800-27883600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:27880800-27884200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:27880800-27895600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr7:27880800-27896600	Weak transcription	Spleen	Spleen
27	chr7:27880800-27896800	Weak transcription	Gastric	stomach
28	chr7:27880800-27913200	Weak transcription	Aorta	Aorta
29	chr7:27881000-27883000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:27881000-27883400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:27881000-27905600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr7:27881200-27883200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:27881200-27883800	Enhancers	Fetal Brain Male	brain
34	chr7:27881200-27895800	Weak transcription	Primary T cells from cord blood	blood
35	chr7:27881400-27883400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:27881400-27883400	Enhancers	Colon Smooth Muscle	Colon
37	chr7:27881600-27883400	Enhancers	Placenta	Placenta
38	chr7:27881600-27883600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:27881600-27884600	Enhancers	Fetal Muscle Leg	muscle
40	chr7:27881600-27895600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:27881800-27883200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:27881800-27883600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:27881800-27896600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:27882000-27885400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:27882200-27883000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr7:27882200-27883000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:27882200-27883600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr7:27882200-27885600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:27882600-27883000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr7:27882600-27883000	Enhancers	Skeletal Muscle Female	skeletal muscle

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