Variant report

Variant	rs2288670
Chromosome Location	chr8:8861009-8861010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8858968..8861271-chr8:9414006..9415764,2	K562	blood:
2	chr8:8860553..8862183-chr8:9011362..9013111,2	K562	blood:
3	chr8:8859472..8863506-chr8:8866779..8870820,4	MCF-7	breast:
4	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:

Variant related genes	Relation type
ENSG00000272267	Chromatin interaction
ENSG00000104626	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1036081	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11782281	0.86[EUR][1000 genomes]
rs12677456	0.81[EUR][1000 genomes]
rs12681075	0.90[EUR][1000 genomes]
rs12682403	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13257208	0.81[EUR][1000 genomes]
rs17155071	0.84[EUR][1000 genomes]
rs2044388	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2082210	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2084076	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2288669	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288671	0.87[ASN][1000 genomes]
rs2288672	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409119	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28693452	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2915248	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2915251	0.82[ASN][1000 genomes]
rs2915252	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2915253	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2921374	0.80[EUR][1000 genomes]
rs2921379	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2953800	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2953801	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2953808	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2953809	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2956242	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2956243	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2979246	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2979249	0.81[EUR][1000 genomes]
rs2979250	0.81[EUR][1000 genomes]
rs2979260	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2979261	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2979262	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2979263	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2979264	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2979265	0.85[ASN][1000 genomes]
rs2979266	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35076339	0.90[EUR][1000 genomes]
rs4081881	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4433148	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4472520	0.83[ASN][1000 genomes]
rs4551361	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4601317	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4636210	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4841085	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55654856	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57552272	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58254294	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58604216	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60664964	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6422353	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67831654	0.90[EUR][1000 genomes]
rs68132987	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68159296	0.86[EUR][1000 genomes]
rs6983008	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6983030	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6983503	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6983504	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6987223	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6987558	0.86[ASN][1000 genomes]
rs6990532	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6992896	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6993244	0.85[ASN][1000 genomes]
rs7001457	0.83[EUR][1000 genomes]
rs7001518	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7006526	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7006798	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7007290	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7012685	0.81[EUR][1000 genomes]
rs7012954	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7012984	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73195758	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73195769	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73195777	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73195780	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73518370	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7357590	0.80[ASN][1000 genomes]
rs7357601	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7824140	0.84[EUR][1000 genomes]
rs7839585	0.82[ASN][1000 genomes]
rs9644673	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9644696	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs987537	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs987538	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
5	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8859600-8861400	Active TSS	A549	lung
2	chr8:8859600-8861600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:8859600-8862000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:8859600-8862000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr8:8859800-8861200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:8859800-8861200	Active TSS	Brain Substantia Nigra	brain
7	chr8:8859800-8861200	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr8:8859800-8861200	Active TSS	Fetal Kidney	kidney
9	chr8:8859800-8861200	Active TSS	Fetal Muscle Trunk	muscle
10	chr8:8859800-8861200	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr8:8859800-8861200	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr8:8859800-8861200	Active TSS	HSMMtube	muscle
13	chr8:8859800-8861400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr8:8859800-8861400	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr8:8859800-8861400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:8859800-8861400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:8859800-8861400	Active TSS	Right Ventricle	heart
18	chr8:8859800-8861400	Active TSS	NHLF	lung
19	chr8:8859800-8861600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr8:8859800-8861600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr8:8859800-8861800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:8859800-8861800	Active TSS	Psoas Muscle	Psoas
23	chr8:8859800-8862000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:8859800-8862000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:8859800-8862000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr8:8859800-8862000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr8:8860000-8861200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:8860000-8861200	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr8:8860000-8861200	Active TSS	Aorta	Aorta
30	chr8:8860000-8861200	Active TSS	Fetal Heart	heart
31	chr8:8860000-8861200	Active TSS	Placenta	Placenta
32	chr8:8860000-8861200	Active TSS	Fetal Stomach	stomach
33	chr8:8860000-8861400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr8:8860000-8861400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:8860000-8861400	Active TSS	Primary T cells fromperipheralblood	blood
36	chr8:8860000-8861400	Active TSS	Fetal Intestine Large	intestine
37	chr8:8860000-8861400	Active TSS	Fetal Muscle Leg	muscle
38	chr8:8860000-8861400	Active TSS	Ovary	ovary
39	chr8:8860000-8861400	Active TSS	Thymus	Thymus
40	chr8:8860000-8861400	Active TSS	GM12878-XiMat	blood
41	chr8:8860000-8861400	Active TSS	NHDF-Ad	bronchial
42	chr8:8860000-8861400	Active TSS	NHEK	skin
43	chr8:8860000-8861600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:8860000-8861600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:8860000-8862000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:8860000-8863400	Active TSS	K562	blood
47	chr8:8860200-8861200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:8860200-8861200	Active TSS	Muscle Satellite Cultured Cells	--
49	chr8:8860200-8861200	Active TSS	Placenta Amnion	Placenta Amnion
50	chr8:8860200-8861400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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