Variant report

Variant	rs10102560
Chromosome Location	chr8:1928921-1928922
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10093041	0.99[ASN][1000 genomes]
rs10097521	0.91[ASN][1000 genomes]
rs10102569	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11136450	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11776183	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11776836	0.94[ASN][1000 genomes]
rs11777154	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11777210	0.98[ASN][1000 genomes]
rs11779933	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11781393	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11782830	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11782860	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11783857	0.82[EUR][1000 genomes]
rs11783884	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12546487	0.97[ASN][1000 genomes]
rs12675904	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12678001	0.98[ASN][1000 genomes]
rs12679875	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12679898	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13271843	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13274738	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13278691	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17064479	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34806713	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34929443	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4242546	0.81[CHB][hapmap]
rs4492421	0.84[JPT][hapmap]
rs4545147	0.84[JPT][hapmap]
rs4633105	0.81[CHB][hapmap]
rs4876258	0.95[ASN][1000 genomes]
rs6986552	0.84[JPT][hapmap]
rs7386176	0.93[ASN][1000 genomes]
rs7386187	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7387163	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7387430	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9657381	0.95[ASN][1000 genomes]
rs9657382	0.87[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9657385	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv889724	chr8:1756800-1965389	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv889729	chr8:1800560-1947417	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv889731	chr8:1868842-1965389	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv889736	chr8:1892069-1965389	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv889738	chr8:1897249-1965389	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv824473	chr8:1914305-1965389	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv824474	chr8:1915145-1960212	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv824477	chr8:1915145-1965389	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv889740	chr8:1916347-1954464	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv889741	chr8:1916347-1955283	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv889742	chr8:1918352-1955142	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1015930	chr8:1919596-1952936	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	esv1839364	chr8:1920461-1951163	Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv1019578	chr8:1926059-1965389	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1923800-1939800	Weak transcription	Colonic Mucosa	Colon
2	chr8:1924000-1939600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:1924200-1929800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr8:1924400-1929000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr8:1924400-1929000	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:1924400-1929000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:1924400-1929000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:1924400-1931200	Weak transcription	Pancreas	Pancrea
9	chr8:1924400-1939200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:1924800-1936800	Weak transcription	Brain Angular Gyrus	brain
11	chr8:1925000-1933800	Weak transcription	Brain Anterior Caudate	brain
12	chr8:1925200-1929000	Weak transcription	Fetal Brain Female	brain
13	chr8:1926200-1929800	Enhancers	Thymus	Thymus
14	chr8:1926800-1931200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:1927200-1931800	Enhancers	Fetal Thymus	thymus
16	chr8:1927800-1929200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:1927800-1930400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr8:1928000-1929000	Enhancers	Primary T cells from cord blood	blood
19	chr8:1928000-1929000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:1928000-1929000	Enhancers	Left Ventricle	heart
21	chr8:1928000-1929200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr8:1928000-1930800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr8:1928200-1929000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr8:1928400-1929200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr8:1928600-1929000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:1928600-1929000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
27	chr8:1928600-1929000	ZNF genes & repeats	Fetal Stomach	stomach
28	chr8:1928600-1929000	Enhancers	Psoas Muscle	Psoas
29	chr8:1928600-1929000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr8:1928600-1929200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr8:1928600-1929200	ZNF genes & repeats	Spleen	Spleen
32	chr8:1928600-1929400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr8:1928600-1930000	ZNF genes & repeats	Brain Germinal Matrix	brain
34	chr8:1928600-1930600	Enhancers	Fetal Heart	heart
35	chr8:1928800-1929200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:1928800-1929200	ZNF genes & repeats	Brain Substantia Nigra	brain
37	chr8:1928800-1929200	ZNF genes & repeats	Fetal Intestine Large	intestine
38	chr8:1928800-1929200	ZNF genes & repeats	Right Atrium	heart
39	chr8:1928800-1929200	Active TSS	Right Ventricle	heart
40	chr8:1928800-1929200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
41	chr8:1928800-1929200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
42	chr8:1928800-1929400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:1928800-1929400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr8:1928800-1929400	ZNF genes & repeats	Fetal Muscle Leg	muscle
45	chr8:1928800-1929400	Flanking Active TSS	Dnd41	blood
46	chr8:1928800-1929600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:1928800-1929600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:1928800-1930000	ZNF genes & repeats	Fetal Intestine Small	intestine

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