Variant report

Variant	rs12678001
Chromosome Location	chr8:1927112-1927113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:1927000-1927150	GM12875	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1862307..1864338-chr8:1926078..1927839,2	K562	blood:

Variant related genes	Relation type
ENSG00000253764	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10093041	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10097521	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10102560	0.98[ASN][1000 genomes]
rs10102569	0.97[ASN][1000 genomes]
rs11136450	0.98[ASN][1000 genomes]
rs11776183	0.98[ASN][1000 genomes]
rs11776836	0.96[ASN][1000 genomes]
rs11777154	0.83[ASN][1000 genomes]
rs11777210	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779933	0.98[ASN][1000 genomes]
rs11781393	0.98[ASN][1000 genomes]
rs11782830	0.98[ASN][1000 genomes]
rs11782860	0.97[ASN][1000 genomes]
rs11783884	0.98[ASN][1000 genomes]
rs12546487	0.97[ASN][1000 genomes]
rs12675904	0.98[ASN][1000 genomes]
rs12679875	0.98[ASN][1000 genomes]
rs12679898	0.98[ASN][1000 genomes]
rs13271843	0.98[ASN][1000 genomes]
rs13274738	0.98[ASN][1000 genomes]
rs13278691	0.96[ASN][1000 genomes]
rs17064479	0.98[ASN][1000 genomes]
rs34806713	0.97[ASN][1000 genomes]
rs34929443	0.95[ASN][1000 genomes]
rs4876258	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7386176	0.95[ASN][1000 genomes]
rs7386187	0.96[ASN][1000 genomes]
rs7387163	0.97[ASN][1000 genomes]
rs7387430	0.97[ASN][1000 genomes]
rs9657381	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9657382	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1922600-1928600	Weak transcription	Spleen	Spleen
2	chr8:1922800-1928800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:1923200-1928800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:1923400-1927200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:1923400-1928000	Weak transcription	Primary T cells from cord blood	blood
6	chr8:1923400-1928200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr8:1923800-1927800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:1923800-1927800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:1923800-1928000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:1923800-1928000	Weak transcription	Fetal Heart	heart
11	chr8:1923800-1928000	Weak transcription	Left Ventricle	heart
12	chr8:1923800-1928800	Weak transcription	Right Atrium	heart
13	chr8:1923800-1939800	Weak transcription	Colonic Mucosa	Colon
14	chr8:1924000-1928000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr8:1924000-1939600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:1924200-1928600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:1924200-1929800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:1924400-1927200	Weak transcription	Fetal Thymus	thymus
19	chr8:1924400-1928600	Weak transcription	Fetal Stomach	stomach
20	chr8:1924400-1928800	Weak transcription	Brain Substantia Nigra	brain
21	chr8:1924400-1928800	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:1924400-1929000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:1924400-1929000	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:1924400-1929000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:1924400-1929000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:1924400-1931200	Weak transcription	Pancreas	Pancrea
27	chr8:1924400-1939200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:1924800-1928800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:1924800-1928800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:1924800-1936800	Weak transcription	Brain Angular Gyrus	brain
31	chr8:1925000-1928800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:1925000-1933800	Weak transcription	Brain Anterior Caudate	brain
33	chr8:1925200-1928600	Weak transcription	Brain Germinal Matrix	brain
34	chr8:1925200-1928800	Weak transcription	Fetal Intestine Large	intestine
35	chr8:1925200-1929000	Weak transcription	Fetal Brain Female	brain
36	chr8:1926200-1929800	Enhancers	Thymus	Thymus
37	chr8:1926400-1928800	Strong transcription	Fetal Intestine Small	intestine
38	chr8:1926400-1928800	Enhancers	Dnd41	blood
39	chr8:1926800-1931200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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