Variant report

Variant	rs73301581
Chromosome Location	chr8:91656068-91656069
allele	C/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	POLR2A	chr8:91656031-91656095	ProgFib	skin:	n/a	n/a
2	SIN3AK20	chr8:91654807-91658067	MCF-7	breast:	n/a	n/a
3	GATA3	chr8:91656005-91656183	MCF-7	breast:	n/a	chr8:91656062-91656071 chr8:91656058-91656074 chr8:91656158-91656169 chr8:91656060-91656072 chr8:91656061-91656071 chr8:91656062-91656069
4	CEBPB	chr8:91655307-91656180	MCF-7	breast:	n/a	chr8:91655684-91655695
5	TBL1XR1	chr8:91655666-91656779	K562	blood:	n/a	n/a
6	POLR2A	chr8:91655945-91656136	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr8:91651930-91659303	MCF-7	breast:	n/a	n/a
8	FOXA1	chr8:91655385-91656086	HepG2	liver:	n/a	chr8:91655926-91655938
9	CEBPB	chr8:91655428-91656074	HepG2	liver:	n/a	chr8:91655684-91655695
10	CEBPB	chr8:91655482-91656082	Hela-S3	cervix:	n/a	chr8:91655684-91655695
11	POLR2A	chr8:91655703-91659084	PBDE	blood:	n/a	n/a
12	GATA1	chr8:91655355-91656413	PBDE	blood:	n/a	chr8:91656062-91656071 chr8:91656058-91656074 chr8:91656158-91656169 chr8:91656060-91656072 chr8:91656061-91656071 chr8:91656062-91656069

No.	Distal block	Cell Line	Cell type
1	chr18:11850609..11852706-chr8:91655783..91658479,2	MCF-7	breast:
2	chr8:91654622..91657377-chr8:91792859..91795110,2	K562	blood:
3	chr8:91654051..91656885-chr8:91803019..91806273,4	MCF-7	breast:
4	chr8:91654238..91656466-chr8:91898414..91902321,3	MCF-7	breast:
5	chr8:91653540..91656169-chr8:91952201..91954392,2	K562	blood:
6	chr1:148551689..148553577-chr8:91655255..91657284,2	MCF-7	breast:
7	chr8:91655211..91656811-chr8:91701508..91704271,2	K562	blood:

Variant related genes	Relation type
ENSG00000246792	TF binding region
ENSG00000255112	Chromatin interaction
ENSG00000123119	Chromatin interaction
ENSG00000180694	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10046610	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10046655	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10046723	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102274	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103195	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11986094	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11989315	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11994308	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893366	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16905044	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16905150	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28394575	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4265146	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4339599	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4500048	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4571698	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984689	0.83[EUR][1000 genomes]
rs6994987	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011692	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017389	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73301574	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301593	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305518	0.93[EUR][1000 genomes]
rs7823529	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297885	0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827745	chr8:91623737-91660193	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91630600-91656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:91632000-91656800	Weak transcription	Left Ventricle	heart
3	chr8:91643200-91657200	Weak transcription	Gastric	stomach
4	chr8:91647800-91656600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:91650800-91656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:91652200-91656600	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:91652200-91659400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr8:91652400-91656400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr8:91653000-91656400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:91653200-91656200	Enhancers	Small Intestine	intestine
11	chr8:91653400-91656400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr8:91653400-91657000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
13	chr8:91653600-91656600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr8:91653800-91657000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr8:91654000-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:91654000-91659200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:91654000-91659400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr8:91654200-91656400	Enhancers	Fetal Brain Male	brain
19	chr8:91654200-91656600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:91654200-91656800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr8:91654200-91656800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:91654200-91657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:91654200-91659000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:91654400-91656600	Enhancers	Stomach Mucosa	stomach
25	chr8:91654400-91657400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:91654400-91659600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr8:91654600-91656200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:91654600-91656400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:91654800-91656400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr8:91654800-91656600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr8:91654800-91657000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:91654800-91657800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr8:91655000-91656200	Active TSS	Colon Smooth Muscle	Colon
34	chr8:91655000-91656200	Flanking Active TSS	Fetal Lung	lung
35	chr8:91655000-91657000	Flanking Active TSS	Fetal Kidney	kidney
36	chr8:91655000-91659000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:91655000-91659400	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr8:91655200-91656200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:91655200-91656200	Flanking Active TSS	NHEK	skin
40	chr8:91655200-91656600	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr8:91655200-91656600	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr8:91655200-91658600	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr8:91655200-91658800	Active TSS	Fetal Intestine Large	intestine
44	chr8:91655200-91658800	Active TSS	K562	blood
45	chr8:91655200-91659200	Active TSS	HSMMtube	muscle
46	chr8:91655400-91656200	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr8:91655400-91656400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:91655400-91656400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr8:91655400-91656400	Enhancers	Brain Germinal Matrix	brain
50	chr8:91655400-91656600	Flanking Active TSS	Rectal Smooth Muscle	rectum

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