Variant report

Variant	rs72690421
Chromosome Location	chr8:87507790-87507791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87505860..87508393-chr8:87512519..87515645,3	K562	blood:
2	chr8:87498343..87500506-chr8:87506060..87508202,2	MCF-7	breast:
3	chr8:87501630..87504632-chr8:87506781..87509503,3	K562	blood:

Variant related genes	Relation type
ENSG00000176623	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17609487	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17609515	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17682647	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2119537	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72688595	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72688596	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72688597	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72688599	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72688600	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72688602	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72690405	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72690406	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690409	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690411	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690412	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72690413	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72690414	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72690415	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72690418	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72690423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690431	1.00[EUR][1000 genomes]
rs72690432	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72690438	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690440	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690441	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690444	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690446	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690449	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690456	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690458	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690467	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72690468	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72690469	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72690475	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72690477	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv968514	chr8:87495999-87514855	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87474000-87517000	Weak transcription	Small Intestine	intestine
2	chr8:87482000-87508200	Weak transcription	Fetal Heart	heart
3	chr8:87482000-87508400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:87482400-87517000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:87482800-87519600	Weak transcription	HUVEC	blood vessel
6	chr8:87483000-87508400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:87488400-87519800	Weak transcription	Psoas Muscle	Psoas
8	chr8:87493800-87508000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:87494200-87519800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:87496600-87507800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:87496600-87515800	Weak transcription	NHLF	lung
12	chr8:87496800-87507800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:87496800-87507800	Weak transcription	Spleen	Spleen
14	chr8:87497000-87516000	Weak transcription	Gastric	stomach
15	chr8:87497000-87516600	Weak transcription	Right Ventricle	heart
16	chr8:87497600-87507800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:87498000-87507800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:87498000-87515800	Weak transcription	Fetal Kidney	kidney
19	chr8:87498200-87517200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:87498400-87507800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:87498400-87507800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:87498400-87517400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:87498400-87519200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:87498800-87508000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:87499800-87507800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:87504400-87508000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:87505400-87507800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:87505600-87507800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:87505600-87508200	Strong transcription	Primary T cells from cord blood	blood
30	chr8:87505800-87510800	Strong transcription	HSMM	muscle
31	chr8:87506000-87507800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:87506000-87507800	Strong transcription	Fetal Intestine Large	intestine
33	chr8:87506000-87508000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:87506000-87508400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:87506000-87509400	ZNF genes & repeats	A549	lung
36	chr8:87506000-87516000	Weak transcription	Hela-S3	cervix
37	chr8:87506200-87508400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:87506400-87507800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr8:87506400-87507800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:87506600-87507800	Strong transcription	Thymus	Thymus
41	chr8:87506600-87508000	ZNF genes & repeats	Fetal Stomach	stomach
42	chr8:87506600-87509000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:87506600-87520000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:87506800-87507800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:87506800-87508200	ZNF genes & repeats	Fetal Thymus	thymus
46	chr8:87506800-87508200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr8:87506800-87509400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:87506800-87511000	ZNF genes & repeats	Fetal Brain Female	brain
49	chr8:87506800-87511600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:87507000-87508000	ZNF genes & repeats	Fetal Intestine Small	intestine

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