Variant report

Variant	rs72668480
Chromosome Location	chr8:100019918-100019919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100019090..100021113-chr8:100023467..100025831,2	K562	blood:
2	chr8:99952762..99963438-chr8:100019139..100031293,37	MCF-7	breast:
3	chr8:99956252..99958234-chr8:100019639..100022057,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271930	Chromatin interaction
ENSG00000253948	Chromatin interaction
ENSG00000132549	Chromatin interaction
ENSG00000104375	Chromatin interaction
ENSG00000164920	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10504986	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10504987	1.00[ASN][1000 genomes]
rs16897111	1.00[ASN][1000 genomes]
rs16897112	1.00[ASN][1000 genomes]
rs16897115	1.00[ASN][1000 genomes]
rs16897117	1.00[ASN][1000 genomes]
rs16897119	1.00[ASN][1000 genomes]
rs16897121	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897122	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897123	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897128	1.00[ASN][1000 genomes]
rs17374005	1.00[ASN][1000 genomes]
rs55708865	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55878650	1.00[ASN][1000 genomes]
rs55892905	1.00[ASN][1000 genomes]
rs55899553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55933347	1.00[ASN][1000 genomes]
rs55939044	1.00[ASN][1000 genomes]
rs55999827	1.00[ASN][1000 genomes]
rs56088337	1.00[ASN][1000 genomes]
rs56099380	1.00[ASN][1000 genomes]
rs56285208	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67954509	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994994	1.00[ASN][1000 genomes]
rs7010279	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7012298	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012465	1.00[ASN][1000 genomes]
rs72666699	1.00[ASN][1000 genomes]
rs72668403	1.00[ASN][1000 genomes]
rs72668407	1.00[ASN][1000 genomes]
rs72668412	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72668417	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668419	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668423	1.00[ASN][1000 genomes]
rs72668425	1.00[ASN][1000 genomes]
rs72668426	1.00[ASN][1000 genomes]
rs72668428	1.00[ASN][1000 genomes]
rs72668430	1.00[ASN][1000 genomes]
rs72668442	1.00[ASN][1000 genomes]
rs72668446	1.00[ASN][1000 genomes]
rs72668447	1.00[ASN][1000 genomes]
rs72668449	1.00[ASN][1000 genomes]
rs72668453	1.00[ASN][1000 genomes]
rs72668455	1.00[ASN][1000 genomes]
rs72668456	1.00[ASN][1000 genomes]
rs72668457	1.00[ASN][1000 genomes]
rs72668458	1.00[ASN][1000 genomes]
rs72668460	1.00[ASN][1000 genomes]
rs72668461	1.00[ASN][1000 genomes]
rs72668464	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668467	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668495	1.00[ASN][1000 genomes]
rs72670210	1.00[ASN][1000 genomes]
rs72672324	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672332	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817630	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7820829	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv967620	chr8:100013130-100021334	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv891221	chr8:100016505-100156391	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99987200-100024200	Weak transcription	Osteobl	bone
2	chr8:100003400-100023400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:100006600-100024000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:100007000-100023800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:100007000-100024200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:100007200-100023000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:100007200-100023600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:100007200-100024000	Weak transcription	Ovary	ovary
9	chr8:100007200-100024400	Weak transcription	Aorta	Aorta
10	chr8:100008600-100021800	Weak transcription	NHDF-Ad	bronchial
11	chr8:100008600-100024000	Weak transcription	NHLF	lung
12	chr8:100008800-100022400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:100012000-100023000	Weak transcription	Liver	Liver
14	chr8:100012000-100023200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:100012200-100023800	Weak transcription	HSMM	muscle
16	chr8:100012400-100023400	Weak transcription	Fetal Lung	lung
17	chr8:100014200-100023000	Weak transcription	Primary B cells from cord blood	blood
18	chr8:100014400-100024200	Weak transcription	Small Intestine	intestine
19	chr8:100014800-100021800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:100014800-100024200	Weak transcription	Psoas Muscle	Psoas
21	chr8:100015000-100022000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:100015000-100022200	Weak transcription	Adipose Nuclei	Adipose
23	chr8:100015000-100023200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:100015000-100023600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:100015000-100023800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:100015000-100024000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:100015000-100024200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:100015000-100024200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:100015200-100022200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:100015200-100022200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:100015200-100022200	Weak transcription	Right Atrium	heart
32	chr8:100015200-100023000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:100015200-100023200	Weak transcription	Primary T cells from cord blood	blood
34	chr8:100015200-100023200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:100015200-100024000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:100015200-100024000	Weak transcription	Fetal Thymus	thymus
37	chr8:100015200-100024000	Weak transcription	Right Ventricle	heart
38	chr8:100015200-100024200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:100015200-100024200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:100015200-100024200	Weak transcription	Placenta	Placenta
41	chr8:100015200-100024200	Weak transcription	Lung	lung
42	chr8:100015200-100024200	Weak transcription	Pancreas	Pancrea
43	chr8:100015200-100024200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr8:100015200-100024800	Weak transcription	Spleen	Spleen
45	chr8:100015400-100021800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr8:100015400-100024000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr8:100015400-100024000	Weak transcription	Left Ventricle	heart
48	chr8:100015400-100024200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:100015400-100024200	Weak transcription	Fetal Kidney	kidney
50	chr8:100015400-100024200	Weak transcription	Thymus	Thymus

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