Variant report

Variant	rs35530445
Chromosome Location	chr8:96241419-96241420
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96143545..96145795-chr8:96241070..96242615,2	K562	blood:
2	chr8:96239016..96241801-chr8:96243185..96245921,2	MCF-7	breast:
3	chr8:96240965..96243166-chr8:96252025..96254042,3	K562	blood:
4	chr8:96238086..96240049-chr8:96241356..96243074,2	K562	blood:
5	chr8:96240789..96242805-chr8:96252372..96254385,3	K562	blood:
6	chr8:96084881..96087733-chr8:96239867..96242215,3	MCF-7	breast:
7	chr8:96222215..96224892-chr8:96239784..96242279,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245080	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs13260234	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267037	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267333	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13271205	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13276926	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994794	1.00[ASN][1000 genomes]
rs34196697	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34289076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34389602	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34463279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34861861	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34962193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35141355	1.00[ASN][1000 genomes]
rs35175236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35195888	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35273564	1.00[ASN][1000 genomes]
rs35511040	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35543354	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35559164	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35690795	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35809593	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36032317	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36096184	1.00[ASN][1000 genomes]
rs55677759	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186143	1.00[ASN][1000 genomes]
rs56237137	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57183551	1.00[ASN][1000 genomes]
rs58191899	1.00[ASN][1000 genomes]
rs58229316	1.00[ASN][1000 genomes]
rs58471124	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58979833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59707579	1.00[ASN][1000 genomes]
rs60835162	1.00[ASN][1000 genomes]
rs61185934	1.00[ASN][1000 genomes]
rs61730929	1.00[ASN][1000 genomes]
rs61730932	1.00[ASN][1000 genomes]
rs61995709	1.00[ASN][1000 genomes]
rs61997199	1.00[ASN][1000 genomes]
rs6471526	1.00[ASN][1000 genomes]
rs7004873	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532351	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532352	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532353	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73266490	1.00[ASN][1000 genomes]
rs73268303	1.00[ASN][1000 genomes]
rs73268328	1.00[ASN][1000 genomes]
rs73695429	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695431	1.00[ASN][1000 genomes]
rs73695432	1.00[ASN][1000 genomes]
rs73695433	1.00[ASN][1000 genomes]
rs73695435	1.00[ASN][1000 genomes]
rs73695436	1.00[ASN][1000 genomes]
rs73695437	1.00[ASN][1000 genomes]
rs73695438	1.00[ASN][1000 genomes]
rs73695439	1.00[ASN][1000 genomes]
rs7814173	1.00[ASN][1000 genomes]
rs7815085	1.00[ASN][1000 genomes]
rs7841828	1.00[ASN][1000 genomes]
rs894149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv465741	chr8:96221122-96247835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv611759	chr8:96221122-96247835	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:96231600-96241600	Enhancers	Fetal Thymus	thymus
3	chr8:96235000-96242200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:96235200-96249200	Enhancers	Primary B cells from cord blood	blood
5	chr8:96238600-96242000	Weak transcription	HSMMtube	muscle
6	chr8:96238600-96244800	Weak transcription	Left Ventricle	heart
7	chr8:96238600-96246600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:96238800-96243800	Weak transcription	Fetal Heart	heart
9	chr8:96238800-96250200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:96239000-96243000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:96239000-96244000	Weak transcription	Right Atrium	heart
12	chr8:96239000-96244800	Weak transcription	Right Ventricle	heart
13	chr8:96239200-96246400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:96239400-96242000	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:96239600-96244600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr8:96239800-96244400	Weak transcription	Fetal Stomach	stomach
17	chr8:96240200-96241800	Enhancers	Fetal Muscle Trunk	muscle
18	chr8:96240400-96244200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:96240800-96241800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:96240800-96241800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:96240800-96241800	Enhancers	Placenta	Placenta
22	chr8:96240800-96241800	Flanking Active TSS	GM12878-XiMat	blood
23	chr8:96240800-96242000	Enhancers	Fetal Intestine Large	intestine
24	chr8:96240800-96242000	Enhancers	Fetal Intestine Small	intestine
25	chr8:96241000-96241600	Genic enhancers	Spleen	Spleen
26	chr8:96241000-96241600	Enhancers	HMEC	breast
27	chr8:96241000-96242200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:96241000-96242200	Enhancers	NHEK	skin
29	chr8:96241000-96242400	Weak transcription	Thymus	Thymus
30	chr8:96241000-96243800	Enhancers	Primary hematopoietic stem cells	blood
31	chr8:96241000-96246800	Weak transcription	HepG2	liver
32	chr8:96241200-96241600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:96241200-96241600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:96241200-96241600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:96241200-96241800	Enhancers	Esophagus	oesophagus
36	chr8:96241200-96241800	ZNF genes & repeats	Lung	lung
37	chr8:96241200-96243000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:96241200-96245000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:96241400-96243200	Weak transcription	Primary T cells from cord blood	blood
40	chr8:96241400-96243600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:96241400-96243800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:96241400-96244000	Enhancers	K562	blood

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