Variant report

Variant	rs73698739
Chromosome Location	chr8:103346252-103346253
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103336736..103338907-chr8:103345859..103348788,2	K562	blood:
2	chr8:103345864..103348308-chr8:103350540..103352268,2	MCF-7	breast:
3	chr8:103341661..103343308-chr8:103345011..103347065,2	K562	blood:
4	chr8:103342144..103347475-chr8:103421612..103426847,6	MCF-7	breast:
5	chr8:103343757..103347850-chr8:103350455..103353849,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28437931	1.00[AMR][1000 genomes]
rs55651645	1.00[AMR][1000 genomes]
rs55800274	1.00[AMR][1000 genomes]
rs55806827	1.00[AMR][1000 genomes]
rs56392012	1.00[AMR][1000 genomes]
rs56392440	1.00[AMR][1000 genomes]
rs57430570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58462905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58489155	1.00[AMR][1000 genomes]
rs58884526	1.00[AMR][1000 genomes]
rs59120811	1.00[AMR][1000 genomes]
rs59149565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59280608	1.00[AMR][1000 genomes]
rs59312502	1.00[AMR][1000 genomes]
rs59588939	1.00[AMR][1000 genomes]
rs60142605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60914912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61088533	1.00[AMR][1000 genomes]
rs61179172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61379180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61388020	1.00[AMR][1000 genomes]
rs61480994	1.00[AMR][1000 genomes]
rs61636997	1.00[AMR][1000 genomes]
rs6985752	1.00[AMR][1000 genomes]
rs7007727	1.00[AMR][1000 genomes]
rs73698398	1.00[AMR][1000 genomes]
rs73698402	1.00[AMR][1000 genomes]
rs73698721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698741	1.00[AMR][1000 genomes]
rs73698744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698799	1.00[AMR][1000 genomes]
rs73701117	1.00[AMR][1000 genomes]
rs73701120	1.00[AMR][1000 genomes]
rs7820662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7841168	1.00[AMR][1000 genomes]
rs7842176	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103325600-103358200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:103326000-103354000	Weak transcription	Lung	lung
3	chr8:103330000-103346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:103330000-103375200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:103335400-103346400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr8:103335400-103346600	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr8:103335400-103346600	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr8:103335400-103347000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:103335400-103351200	Strong transcription	Duodenum Mucosa	Duodenum
10	chr8:103335400-103355000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:103335400-103360000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:103335400-103361200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:103335400-103361400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:103335400-103363400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr8:103335400-103363800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:103335400-103373200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:103335400-103373400	Strong transcription	Fetal Thymus	thymus
18	chr8:103335400-103373600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:103335800-103355800	Strong transcription	GM12878-XiMat	blood
20	chr8:103335800-103370200	Strong transcription	Dnd41	blood
21	chr8:103336000-103352200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:103336400-103353200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:103337000-103380000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:103337800-103346400	Strong transcription	Primary hematopoietic stem cells	blood
25	chr8:103339400-103359000	Weak transcription	Spleen	Spleen
26	chr8:103339600-103354000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:103339600-103359000	Weak transcription	Colonic Mucosa	Colon
28	chr8:103340600-103349200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:103340800-103354000	Weak transcription	Right Ventricle	heart
30	chr8:103340800-103357600	Weak transcription	HSMMtube	muscle
31	chr8:103340800-103379400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:103341400-103346600	Weak transcription	Fetal Stomach	stomach
33	chr8:103341400-103354000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr8:103341400-103355600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr8:103341800-103346400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:103342000-103352800	Weak transcription	Brain Germinal Matrix	brain
37	chr8:103342200-103352400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:103342200-103357200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:103342200-103357600	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:103343400-103346400	Genic enhancers	K562	blood
41	chr8:103343600-103351200	Strong transcription	Primary T cells from cord blood	blood
42	chr8:103344200-103346400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:103344200-103347000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:103344200-103347600	Weak transcription	Osteobl	bone
45	chr8:103344200-103349600	Weak transcription	NHDF-Ad	bronchial
46	chr8:103344200-103352600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr8:103344200-103361400	Weak transcription	Right Atrium	heart
48	chr8:103344200-103373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:103344400-103346600	Weak transcription	Fetal Intestine Small	intestine
50	chr8:103344400-103350200	Weak transcription	HUVEC	blood vessel

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