Variant report

Variant	rs73285260
Chromosome Location	chr8:103416048-103416049
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103414964..103417747-chr8:103817201..103820988,4	MCF-7	breast:
2	chr8:103415838..103418096-chr8:103597616..103599630,2	K562	blood:
3	chr8:103412551..103414334-chr8:103414528..103416679,2	MCF-7	breast:
4	chr8:103404586..103407387-chr8:103414307..103417214,2	MCF-7	breast:
5	chr8:103415838..103418096-chr8:103596950..103599630,3	K562	blood:

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1037698	1.00[ASN][1000 genomes]
rs10505023	1.00[ASN][1000 genomes]
rs10505026	1.00[ASN][1000 genomes]
rs11575866	1.00[ASN][1000 genomes]
rs11783533	1.00[ASN][1000 genomes]
rs16869246	1.00[ASN][1000 genomes]
rs17185155	1.00[ASN][1000 genomes]
rs17185245	1.00[ASN][1000 genomes]
rs17432015	1.00[ASN][1000 genomes]
rs17433890	1.00[ASN][1000 genomes]
rs17509673	1.00[ASN][1000 genomes]
rs17512347	1.00[ASN][1000 genomes]
rs17512821	1.00[ASN][1000 genomes]
rs1824194	1.00[ASN][1000 genomes]
rs28927372	1.00[ASN][1000 genomes]
rs28928568	1.00[ASN][1000 genomes]
rs28928570	1.00[ASN][1000 genomes]
rs28928575	1.00[ASN][1000 genomes]
rs28928577	1.00[ASN][1000 genomes]
rs28928583	1.00[ASN][1000 genomes]
rs28928584	1.00[ASN][1000 genomes]
rs28928588	1.00[ASN][1000 genomes]
rs28928589	1.00[ASN][1000 genomes]
rs28928594	1.00[ASN][1000 genomes]
rs28928595	1.00[ASN][1000 genomes]
rs28928599	1.00[ASN][1000 genomes]
rs28928601	1.00[ASN][1000 genomes]
rs28928602	1.00[ASN][1000 genomes]
rs28928606	1.00[ASN][1000 genomes]
rs28999688	1.00[ASN][1000 genomes]
rs28999709	1.00[ASN][1000 genomes]
rs29000269	1.00[ASN][1000 genomes]
rs29000275	1.00[ASN][1000 genomes]
rs29000279	1.00[ASN][1000 genomes]
rs29000280	1.00[ASN][1000 genomes]
rs29000281	1.00[ASN][1000 genomes]
rs29000284	1.00[ASN][1000 genomes]
rs3204695	1.00[ASN][1000 genomes]
rs34739767	1.00[ASN][1000 genomes]
rs35066978	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4102401	1.00[ASN][1000 genomes]
rs56273032	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58160045	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60370901	0.94[AFR][1000 genomes]
rs7002260	0.85[AFR][1000 genomes]
rs73285249	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73285256	0.94[AFR][1000 genomes]
rs73285269	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7836803	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	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	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
3	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
4	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
5	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
6	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103369800-103421000	Weak transcription	Colonic Mucosa	Colon
2	chr8:103384200-103416800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:103388400-103416600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:103395800-103420800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:103395800-103422200	Weak transcription	HSMMtube	muscle
6	chr8:103397400-103420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:103398600-103420800	Weak transcription	Esophagus	oesophagus
8	chr8:103403400-103416800	Weak transcription	Placenta	Placenta
9	chr8:103403400-103420000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:103403400-103423000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:103404400-103416200	Weak transcription	NHLF	lung
12	chr8:103407000-103417000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:103407600-103421000	Weak transcription	Spleen	Spleen
14	chr8:103408400-103421000	Weak transcription	Thymus	Thymus
15	chr8:103408400-103422400	Weak transcription	Small Intestine	intestine
16	chr8:103408600-103416200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:103408600-103417600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:103408800-103422000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:103409200-103416800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:103409600-103416400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:103410000-103420200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:103410600-103422400	Weak transcription	Fetal Kidney	kidney
23	chr8:103410800-103422800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:103411000-103417800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:103411000-103420800	Weak transcription	Fetal Stomach	stomach
26	chr8:103411400-103417400	Weak transcription	HSMM	muscle
27	chr8:103412000-103420800	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:103412400-103416400	Strong transcription	Dnd41	blood
29	chr8:103412400-103417600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:103412600-103417600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr8:103412800-103416400	Enhancers	Brain Anterior Caudate	brain
32	chr8:103412800-103416800	Weak transcription	Fetal Thymus	thymus
33	chr8:103412800-103416800	Weak transcription	Pancreas	Pancrea
34	chr8:103412800-103423200	Weak transcription	Lung	lung
35	chr8:103413000-103417000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:103413200-103422000	Weak transcription	Fetal Intestine Large	intestine
37	chr8:103413400-103416200	Enhancers	Psoas Muscle	Psoas
38	chr8:103413600-103416200	Enhancers	Right Atrium	heart
39	chr8:103413800-103420800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr8:103414000-103420000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:103414000-103421000	Weak transcription	Gastric	stomach
42	chr8:103414000-103422000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr8:103414000-103423000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr8:103414400-103416200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:103414400-103416800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:103414400-103416800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:103414400-103419800	Weak transcription	Right Ventricle	heart
48	chr8:103414600-103416600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr8:103414600-103419400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:103414600-103421000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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